learning_disability

Disorder

• Status:

  Included

  Name:

  4p partial monosomy syndrome

  Code:

  (17122004)

• Status:

  Included

  Name:

  5p partial monosomy syndrome

  Code:

  (70173007)

• Status:

  Included

  Name:

  Acrodysostosis

  Code:

  (66758006)

• Status:

  Included

  Name:

  Anomalies of great veins

  Code:

  (204451006)

  • Status:

    Included

    Name:

    Anomalous termination of right pulmonary vein

    Code:

    (253321003)

  • Status:

    Included

    Name:

    Congenital abnormality of great veins and coronary sinus

    Code:

    (234132006)

    • Status:

      Excluded

      Name:

      Right superior vena cava connecting to coronary sinus

      Code:

      (448113007)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to coronary sinus and left sided atrium

        Code:

        (727161000000106)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to coronary sinus and right sided atrium

        Code:

        (727151000000108)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to coronary sinus and then to left sided atrium

        Code:

        (449458003)

      • Status:

        Excluded

        Name:

        Right superior vena cava persisting to coronary sinus and then to right sided atrium

        Code:

        (449523002)

  • Status:

    Excluded

    Name:

    Congenital anomaly of vena cava

    Code:

    (2213002)

    • Status:

      Excluded

      Name:

      Congenital absence of vena cava

      Code:

      (2534005)

      • Status:

        Excluded

        Name:

        Congenital absence of inferior vena cava

        Code:

        (74908007)

      • Status:

        Excluded

        Name:

        Congenital absence of superior vena cava

        Code:

        (26865008)

        • Status:

          Excluded

          Name:

          Absent bridging vein

          Code:

          (253312004)

        • Status:

          Excluded

          Name:

          Absent right superior vena cava

          Code:

          (253308005)

    • Status:

      Included

      Name:

      Congenital anomaly of inferior vena cava

      Code:

      (81577001)

      • Status:

        Included

        Name:

        Abnormal inferior vena caval connection

        Code:

        (253316001)

        • Status:

          Excluded

          Name:

          Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava

          Code:

          (22750001)

        • Status:

          Excluded

          Name:

          Inferior vena cava connecting to coronary sinus

          Code:

          (253318000)

        • Status:

          Excluded

          Name:

          Inferior vena cava connecting to morphological left atrium

          Code:

          (253317005)

        • Status:

          Excluded

          Name:

          Inferior vena cava connecting to right atrium and left atrium

          Code:

          (448965008)

        • Status:

          Excluded

          Name:

          Left inferior vena cava connecting to left atrium and right atrium

          Code:

          (448632002)

        • Status:

          Excluded

          Name:

          Left inferior vena cava connecting to left sided atrium

          Code:

          (449009009)

        • Status:

          Excluded

          Name:

          Left inferior vena cava connecting to right sided atrium

          Code:

          (449010004)

      • Status:

        Excluded

        Name:

        Azygos continuation of inferior vena cava to left superior vena cava

        Code:

        (728911000000108)

      • Status:

        Excluded

        Name:

        Azygos continuation of inferior vena cava to right superior vena cava

        Code:

        (448620001)

        • Status:

          Excluded

          Name:

          Left sided azygos continuation of inferior vena cava to left superior vena cava

          Code:

          (449426008)

      • Status:

        Excluded

        Name:

        Congenital absence of inferior vena cava

        Code:

        (74908007)

      • Status:

        Included

        Name:

        Congenital atresia of inferior vena cava

        Code:

        (93031005)

        • Status:

          Included

          Name:

          Inferior vena cava interruption with bilateral azygos continuation

          Code:

          (253315002)

        • Status:

          Excluded

          Name:

          Inferior vena cava interruption with left sided hemiazygos continuation

          Code:

          (253313009)

        • Status:

          Excluded

          Name:

          Inferior vena cava interruption with right sided azygos continuation

          Code:

          (253314003)

      • Status:

        Excluded

        Name:

        Congenital dilatation of inferior vena cava

        Code:

        (93056004)

      • Status:

        Excluded

        Name:

        Congenital malposition of inferior vena cava

        Code:

        (93328001)

        • Status:

          Excluded

          Name:

          Inferior vena cava anterior and same side as descending aorta

          Code:

          (448614002)

        • Status:

          Excluded

          Name:

          Inferior vena cava to left of spine

          Code:

          (253319008)

          • Status:

            Included

            Name:

            Inferior cava to left of spine with right descending aorta

            Code:

            (253320002)

        • Status:

          Excluded

          Name:

          Transposition of inferior vena cava

          Code:

          (781065009)

          • Status:

            Excluded

            Name:

            Interrupted left inferior vena cava

            Code:

            (448501005)

          • Status:

            Excluded

            Name:

            Left inferior vena cava connecting to left atrium and right atrium

            Code:

            (448632002)

          • Status:

            Excluded

            Name:

            Left inferior vena cava connecting to left sided atrium

            Code:

            (449009009)

          • Status:

            Excluded

            Name:

            Left inferior vena cava connecting to right sided atrium

            Code:

            (449010004)

      • Status:

        Excluded

        Name:

        Interrupted right inferior vena cava

        Code:

        (448782004)

      • Status:

        Included

        Name:

        Obstructive Eustachian valve

        Code:

        (253341008)

      • Status:

        Excluded

        Name:

        Persistent Eustachian valve

        Code:

        (783011004)

      • Status:

        Included

        Name:

        Prolapse of Eustachian valve

        Code:

        (253342001)

        • Status:

          Excluded

          Name:

          Prolapse of Eustachian valve through atrial septum

          Code:

          (447689001)

        • Status:

          Excluded

          Name:

          Prolapse of Eustachian valve through tricuspid valve

          Code:

          (447690005)

    • Status:

      Included

      Name:

      Congenital anomaly of superior vena cava

      Code:

      (70195006)

      • Status:

        Excluded

        Name:

        Abnormality of right superior vena cava

        Code:

        (253306009)

        • Status:

          Excluded

          Name:

          Absent right superior vena cava

          Code:

          (253308005)

        • Status:

          Included

          Name:

          Anomalous insertion of right superior vena cava to left atrium

          Code:

          (253310007)

        • Status:

          Excluded

          Name:

          Atretic right superior vena cava

          Code:

          (253307000)

        • Status:

          Included

          Name:

          Congenital stenosis of superior vena cava

          Code:

          (45492009)

        • Status:

          Excluded

          Name:

          Right superior vena cava connecting to coronary sinus

          Code:

          (448113007)

          • Status:

            Excluded

            Name:

            Right superior vena cava connecting to coronary sinus and left sided atrium

            Code:

            (727161000000106)

          • Status:

            Excluded

            Name:

            Right superior vena cava connecting to coronary sinus and right sided atrium

            Code:

            (727151000000108)

          • Status:

            Excluded

            Name:

            Right superior vena cava connecting to coronary sinus and then to left sided atrium

            Code:

            (449458003)

          • Status:

            Excluded

            Name:

            Right superior vena cava persisting to coronary sinus and then to right sided atrium

            Code:

            (449523002)

      • Status:

        Included

        Name:

        Bilateral superior vena cava

        Code:

        (253311006)

      • Status:

        Excluded

        Name:

        Congenital absence of superior vena cava

        Code:

        (26865008)

        • Status:

          Excluded

          Name:

          Absent bridging vein

          Code:

          (253312004)

        • Status:

          Excluded

          Name:

          Absent right superior vena cava

          Code:

          (253308005)

      • Status:

        Excluded

        Name:

        Congenital atresia of superior vena cava

        Code:

        (93033008)

        • Status:

          Excluded

          Name:

          Atresia of left superior vena cava

          Code:

          (447902006)

        • Status:

          Excluded

          Name:

          Atretic right superior vena cava

          Code:

          (253307000)

      • Status:

        Excluded

        Name:

        Congenital dilatation of superior vena cava

        Code:

        (93062009)

      • Status:

        Excluded

        Name:

        Congenital malposition of superior vena cava

        Code:

        (93354009)

        • Status:

          Included

          Name:

          Anomalous insertion of right superior vena cava to left atrium

          Code:

          (253310007)

      • Status:

        Included

        Name:

        Persistent left superior vena cava

        Code:

        (77978002)

        • Status:

          Excluded

          Name:

          Left superior caval vein persisting to coronary sinus

          Code:

          (445027003)

          • Status:

            Excluded

            Name:

            Left superior vena cava persisting to coronary sinus and right atrium

            Code:

            (727221000000107)

          • Status:

            Excluded

            Name:

            Left superior vena cava persisting to coronary sinus and then to right sided atrium

            Code:

            (449188001)

        • Status:

          Excluded

          Name:

          Left superior caval vein persisting to left sided atrium

          Code:

          (445436005)

        • Status:

          Excluded

          Name:

          Left superior vena cava persisting to right atrium and left atrium

          Code:

          (447812003)

        • Status:

          Excluded

          Name:

          Left superior vena cava persisting to right sided atrium

          Code:

          (448332007)

      • Status:

        Excluded

        Name:

        Retro-aortic brachiocephalic vein

        Code:

        (728851000000102)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to left atrium and right atrium

        Code:

        (448000003)

  • Status:

    Excluded

    Name:

    Partial anomalous pulmonary venous connection of entire left lung

    Code:

    (447939007)

  • Status:

    Excluded

    Name:

    Partial anomalous pulmonary venous connection of entire right lung

    Code:

    (447827003)

  • Status:

    Included

    Name:

    Scimitar syndrome

    Code:

    (39905002)

    • Status:

      Excluded

      Name:

      Scimitar syndrome with additional anomalous pulmonary venous connection

      Code:

      (448595006)

• Status:

  Included

  Name:

  Aortopulmonary window

  Code:

  (17024001)

  • Status:

    Excluded

    Name:

    Aortopulmonary window with tubular connection

    Code:

    (447901004)

  • Status:

    Excluded

    Name:

    Confluent aortopulmonary window with minimal superior and inferior rim

    Code:

    (447702004)

  • Status:

    Excluded

    Name:

    Distal aortopulmonary window with minimal superior rim

    Code:

    (447700007)

  • Status:

    Excluded

    Name:

    Infective endarteritis at site of aortopulmonary window

    Code:

    (459173004)

  • Status:

    Excluded

    Name:

    Intermediate aortopulmonary window with adequate superior and inferior rim

    Code:

    (447701006)

  • Status:

    Excluded

    Name:

    Proximal aortopulmonary window with minimal inferior rim

    Code:

    (447773008)

• Status:

  Included

  Name:

  Arrhythmogenic right ventricular dysplasia

  Code:

  (253528005)

  • Status:

    Excluded

    Name:

    Familial isolated arrhythmogenic right ventricular dysplasia

    Code:

    (715865008)

  • Status:

    Excluded

    Name:

    Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome

    Code:

    (715535009)

• Status:

  Included

  Name:

  Ataxia-telangiectasia syndrome

  Code:

  (68504005)

• Status:

  Included

  Name:

  Bloom syndrome

  Code:

  (4434006)

• Status:

  Included

  Name:

  Coffin-Lowry syndrome

  Code:

  (15182000)

• Status:

  Included

  Name:

  Cohen syndrome

  Code:

  (56604005)

  • Status:

    Excluded

    Name:

    Periodontitis co-occurrent with Cohen syndrome

    Code:

    (709466003)

• Status:

  Included

  Name:

  Complete trisomy 13 syndrome

  Code:

  (21111006)

  • Status:

    Excluded

    Name:

    Fetus with complete trisomy 13 syndrome

    Code:

    (125521000119101)

  • Status:

    Excluded

    Name:

    Trisomy 13 - mitotic nondisjunction mosaicism

    Code:

    (205620000)

  • Status:

    Excluded

    Name:

    Trisomy 13, meiotic nondisjunction

    Code:

    (205619006)

• Status:

  Included

  Name:

  Complete trisomy 18 syndrome

  Code:

  (51500006)

  • Status:

    Excluded

    Name:

    Fetus with complete trisomy 18 syndrome

    Code:

    (125511000119108)

  • Status:

    Excluded

    Name:

    Trisomy 18 - meiotic nondisjunction

    Code:

    (205623003)

  • Status:

    Excluded

    Name:

    Trisomy 18 - mitotic nondisjunction mosaicism

    Code:

    (205624009)

• Status:

  Included

  Name:

  Complete trisomy 21 syndrome

  Code:

  (41040004)

  • Status:

    Included

    Name:

    Dementia co-occurrent and due to Down syndrome

    Code:

    (733194007)

  • Status:

    Excluded

    Name:

    Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis

    Code:

    (840505007)

  • Status:

    Included

    Name:

    Fetus with complete trisomy 21 syndrome

    Code:

    (125501000119105)

  • Status:

    Included

    Name:

    Myeloid leukemia co-occurrent with Down syndrome

    Code:

    (724644005)

  • Status:

    Included

    Name:

    Periodontitis co-occurrent with Down syndrome

    Code:

    (709469005)

  • Status:

    Included

    Name:

    Transient abnormal myelopoiesis co-occurrent with Down syndrome

    Code:

    (724643004)

  • Status:

    Included

    Name:

    Trisomy 21- meiotic nondisjunction

    Code:

    (205615000)

• Status:

  Included

  Name:

  Congenital absence of bile duct

  Code:

  (1287007)

  • Status:

    Excluded

    Name:

    Agenesis of bile duct

    Code:

    (1003567000)

    • Status:

      Included

      Name:

      Congenital absence of hepatic ducts

      Code:

      (204781002)

  • Status:

    Excluded

    Name:

    Congenital absence of cystic duct

    Code:

    (890201000)

• Status:

  Included

  Name:

  Congenital absence of cervix

  Code:

  (37687000)

  • Status:

    Excluded

    Name:

    Aplasia of uterine cervix

    Code:

    (783095007)

• Status:

  Included

  Name:

  Congenital absence of spleen

  Code:

  (93030006)

  • Status:

    Excluded

    Name:

    Agenesis of spleen

    Code:

    (1003551006)

  • Status:

    Excluded

    Name:

    Bilateral right-sidedness sequence

    Code:

    (17604001)

  • Status:

    Excluded

    Name:

    Familial isolated congenital asplenia

    Code:

    (726708009)

• Status:

  Included

  Name:

  Congenital absence of thyroid gland

  Code:

  (92978002)

  • Status:

    Excluded

    Name:

    Congenital absence of half of thyroid

    Code:

    (715734006)

• Status:

  Included

  Name:

  Congenital anomaly of aorta

  Code:

  (59877000)

  • Status:

    Included

    Name:

    Anomalies of the aorta excluding coarction

    Code:

    (253615009)

  • Status:

    Included

    Name:

    Coarctation of aorta

    Code:

    (7305005)

    • Status:

      Excluded

      Name:

      Abdominal aortic coarctation

      Code:

      (253679008)

      • Status:

        Excluded

        Name:

        Coarctation of infrarenal abdominal aorta

        Code:

        (450305007)

      • Status:

        Excluded

        Name:

        Coarctation of suprarenal abdominal aorta

        Code:

        (450304006)

    • Status:

      Excluded

      Name:

      Common arterial trunk with pulmonary dominance and aortic coarctation

      Code:

      (871650000)

    • Status:

      Excluded

      Name:

      Shone complex

      Code:

      (41371000119100)

    • Status:

      Included

      Name:

      Thoracic aortic coarctation

      Code:

      (253678000)

      • Status:

        Excluded

        Name:

        Coarctation of aorta between left common carotid artery and right common carotid artery

        Code:

        (450313008)

      • Status:

        Excluded

        Name:

        Coarctation of aorta between subclavian artery and common carotid artery

        Code:

        (450312003)

      • Status:

        Excluded

        Name:

        Coarctation of aortic arch

        Code:

        (723867002)

        • Status:

          Included

          Name:

          Juxtaductal aortic coarctation

          Code:

          (253675002)

        • Status:

          Included

          Name:

          Postductal coarctation of aorta

          Code:

          (72242008)

          • Status:

            Included

            Name:

            Postductal aortic stenosis

            Code:

            (253676001)

          • Status:

            Included

            Name:

            Postductal interruption of aorta

            Code:

            (253677005)

        • Status:

          Included

          Name:

          Preductal coarctation of aorta

          Code:

          (13867009)

          • Status:

            Included

            Name:

            Preductal aortic stenosis

            Code:

            (253672004)

          • Status:

            Included

            Name:

            Preductal hypoplasia of aorta

            Code:

            (253674003)

          • Status:

            Included

            Name:

            Preductal interruption of aorta

            Code:

            (253673009)

  • Status:

    Excluded

    Name:

    Congenital abnormality of ascending aorta

    Code:

    (448471006)

    • Status:

      Included

      Name:

      Aortic root congenital abnormality

      Code:

      (251038002)

      • Status:

        Excluded

        Name:

        Congenital dilatation of aortic root

        Code:

        (7991000119102)

        • Status:

          Included

          Name:

          Congenital aneurysm of sinus of Valsalva

          Code:

          (54160000)

      • Status:

        Excluded

        Name:

        Congenital supravalvular aortic stenosis

        Code:

        (7169009)

      • Status:

        Excluded

        Name:

        Malalignment of aortic sinus in relation to pulmonary sinus

        Code:

        (448280008)

    • Status:

      Excluded

      Name:

      Aortic tunnel

      Code:

      (253649001)

      • Status:

        Excluded

        Name:

        Aorta to right ventricle tunnel

        Code:

        (253650001)

      • Status:

        Included

        Name:

        Aortic left ventricular tunnel

        Code:

        (26201005)

        • Status:

          Excluded

          Name:

          Aortic left ventricular tunnel with right coronary artery from tunnel

          Code:

          (448095003)

        • Status:

          Excluded

          Name:

          Aortico-left ventricular tunnel of simple type

          Code:

          (448842002)

        • Status:

          Excluded

          Name:

          Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall

          Code:

          (448975006)

          • Status:

            Excluded

            Name:

            Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall

            Code:

            (448843007)

        • Status:

          Excluded

          Name:

          Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion

          Code:

          (449398002)

          • Status:

            Excluded

            Name:

            Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall

            Code:

            (448843007)

    • Status:

      Excluded

      Name:

      Ascending aorta absent

      Code:

      (253644006)

    • Status:

      Included

      Name:

      Ascending aortic atresia

      Code:

      (253643000)

    • Status:

      Excluded

      Name:

      Congenital dilation of ascending aorta

      Code:

      (445176007)

      • Status:

        Included

        Name:

        Congenital aneurysm of ascending aorta

        Code:

        (253646008)

        • Status:

          Included

          Name:

          Congenital aneurysm of sinus of Valsalva

          Code:

          (54160000)

      • Status:

        Excluded

        Name:

        Congenital dilatation of aortic root

        Code:

        (7991000119102)

        • Status:

          Included

          Name:

          Congenital aneurysm of sinus of Valsalva

          Code:

          (54160000)

    • Status:

      Included

      Name:

      Congenital hypoplasia of ascending aorta

      Code:

      (12075007)

    • Status:

      Excluded

      Name:

      Disorder of ascending aorta due to conotruncal malformation

      Code:

      (871667007)

    • Status:

      Excluded

      Name:

      Solitary aortic trunk with pulmonary atresia

      Code:

      (253303001)

  • Status:

    Included

    Name:

    Congenital abnormality of thoracic aorta and pulmonary arteries

    Code:

    (271573009)

    • Status:

      Included

      Name:

      Major aortopulmonary collateral artery

      Code:

      (253689007)

    • Status:

      Excluded

      Name:

      Systemic to pulmonary collateral artery from descending thoracic aorta

      Code:

      (459164007)

    • Status:

      Excluded

      Name:

      Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

      Code:

      (762433009)

    • Status:

      Excluded

      Name:

      Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery

      Code:

      (448078006)

    • Status:

      Excluded

      Name:

      Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery

      Code:

      (448079003)

  • Status:

    Excluded

    Name:

    Congenital absence of aorta

    Code:

    (90383006)

    • Status:

      Included

      Name:

      Aplasia of aorta

      Code:

      (204433005)

    • Status:

      Excluded

      Name:

      Ascending aorta absent

      Code:

      (253644006)

  • Status:

    Excluded

    Name:

    Congenital anomaly of abdominal aorta

    Code:

    (724436003)

    • Status:

      Excluded

      Name:

      Abdominal aortic coarctation

      Code:

      (253679008)

      • Status:

        Excluded

        Name:

        Coarctation of infrarenal abdominal aorta

        Code:

        (450305007)

      • Status:

        Excluded

        Name:

        Coarctation of suprarenal abdominal aorta

        Code:

        (450304006)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of abdominal aorta

      Code:

      (461371009)

    • Status:

      Excluded

      Name:

      Systemic to pulmonary collateral artery from abdominal aorta

      Code:

      (459165008)

  • Status:

    Included

    Name:

    Congenital anomaly of aortic arch

    Code:

    (79439001)

    • Status:

      Excluded

      Name:

      Abnormal course of aortic arch

      Code:

      (448097006)

    • Status:

      Excluded

      Name:

      Abnormal course of aortic arch and descending aorta

      Code:

      (448721009)

    • Status:

      Included

      Name:

      Anomalous origin of the aortic arch

      Code:

      (204423002)

    • Status:

      Excluded

      Name:

      Aortic arch centrally descending

      Code:

      (253656007)

    • Status:

      Included

      Name:

      Cervical aortic arch

      Code:

      (253657003)

    • Status:

      Excluded

      Name:

      Coarctation of aortic arch

      Code:

      (723867002)

      • Status:

        Included

        Name:

        Juxtaductal aortic coarctation

        Code:

        (253675002)

      • Status:

        Included

        Name:

        Postductal coarctation of aorta

        Code:

        (72242008)

        • Status:

          Included

          Name:

          Postductal aortic stenosis

          Code:

          (253676001)

        • Status:

          Included

          Name:

          Postductal interruption of aorta

          Code:

          (253677005)

      • Status:

        Included

        Name:

        Preductal coarctation of aorta

        Code:

        (13867009)

        • Status:

          Included

          Name:

          Preductal aortic stenosis

          Code:

          (253672004)

        • Status:

          Included

          Name:

          Preductal hypoplasia of aorta

          Code:

          (253674003)

        • Status:

          Included

          Name:

          Preductal interruption of aorta

          Code:

          (253673009)

    • Status:

      Excluded

      Name:

      Common arterial trunk with obstruction of aortic arch

      Code:

      (448809003)

    • Status:

      Excluded

      Name:

      Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch

      Code:

      (724437007)

    • Status:

      Excluded

      Name:

      Congenital atresia of aortic arch

      Code:

      (461557000)

      • Status:

        Excluded

        Name:

        Atresia of aortic arch with fibrous cord

        Code:

        (461562004)

        • Status:

          Excluded

          Name:

          Atresia of aortic arch with fibrous cord between left common carotid artery and right common carotid artery

          Code:

          (461577007)

        • Status:

          Excluded

          Name:

          Atresia of aortic arch with fibrous cord between subclavian artery and common carotid artery

          Code:

          (461572001)

        • Status:

          Excluded

          Name:

          Atresia of aortic arch with fibrous cord distal to subclavian artery

          Code:

          (461567005)

      • Status:

        Excluded

        Name:

        Congenital luminal atresia of aortic arch between left common carotid artery and right common carotid artery

        Code:

        (461597002)

      • Status:

        Excluded

        Name:

        Congenital luminal atresia of aortic arch between subclavian artery and common carotid artery

        Code:

        (461592008)

      • Status:

        Excluded

        Name:

        Congenital luminal atresia of aortic arch distal to subclavian artery

        Code:

        (461587006)

      • Status:

        Excluded

        Name:

        Double aortic arch with left arch dominant and atresia of right arch

        Code:

        (447970004)

      • Status:

        Excluded

        Name:

        Double aortic arch with right arch dominant and atresia of left arch

        Code:

        (447849009)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum

          Code:

          (449536002)

    • Status:

      Excluded

      Name:

      Congenital dilatation of aortic arch

      Code:

      (93050005)

    • Status:

      Included

      Name:

      Congenital hypoplasia of aortic arch

      Code:

      (60787001)

      • Status:

        Excluded

        Name:

        Aortic arch hypoplasia between carotid arteries

        Code:

        (449232001)

      • Status:

        Excluded

        Name:

        Aortic arch hypoplasia between subclavian and common carotid arteries

        Code:

        (448645003)

      • Status:

        Excluded

        Name:

        Aortic arch hypoplasia distal to subclavian artery

        Code:

        (448646002)

      • Status:

        Excluded

        Name:

        Double aortic arch with dominant left arch and hypoplasia of right arch

        Code:

        (767309006)

      • Status:

        Excluded

        Name:

        Double aortic arch with dominant right arch and hypoplasia of left arch

        Code:

        (767311002)

      • Status:

        Excluded

        Name:

        Postductal hypoplasia of aorta

        Code:

        (253680006)

    • Status:

      Included

      Name:

      Double aortic arch

      Code:

      (10451007)

      • Status:

        Excluded

        Name:

        Double aortic arch with balanced arches

        Code:

        (447928009)

      • Status:

        Excluded

        Name:

        Double aortic arch with both patent

        Code:

        (253660005)

      • Status:

        Excluded

        Name:

        Double aortic arch with left arch dominant

        Code:

        (447929001)

        • Status:

          Excluded

          Name:

          Double aortic arch with dominant left arch and hypoplasia of right arch

          Code:

          (767309006)

        • Status:

          Excluded

          Name:

          Double aortic arch with left arch dominant and atresia of right arch

          Code:

          (447970004)

        • Status:

          Excluded

          Name:

          Double aortic arch with left arch dominant and coarctation of right arch

          Code:

          (447703009)

        • Status:

          Excluded

          Name:

          Double aortic arch with left arch dominant and right arch patent

          Code:

          (449430006)

      • Status:

        Excluded

        Name:

        Double aortic arch with right arch dominant

        Code:

        (447930006)

        • Status:

          Excluded

          Name:

          Double aortic arch with dominant right arch and hypoplasia of left arch

          Code:

          (767311002)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and atresia of left arch

          Code:

          (447849009)

          • Status:

            Excluded

            Name:

            Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum

            Code:

            (449536002)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and coarctation of left arch

          Code:

          (447850009)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and left arch patent

          Code:

          (449427004)

      • Status:

        Excluded

        Name:

        Encircling double aortic arch

        Code:

        (764521002)

      • Status:

        Excluded

        Name:

        Persisting fifth aortic arch with double barrell arch

        Code:

        (447772003)

    • Status:

      Included

      Name:

      Interrupted aortic arch

      Code:

      (218728005)

      • Status:

        Excluded

        Name:

        Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch

        Code:

        (762253006)

      • Status:

        Excluded

        Name:

        Interrupted aortic arch between left common carotid and brachiocephalic artery

        Code:

        (253683008)

      • Status:

        Excluded

        Name:

        Interruption of aortic arch between left common carotid artery and right common carotid artery

        Code:

        (472103001)

      • Status:

        Excluded

        Name:

        Interruption of aortic arch between subclavian artery and common carotid artery

        Code:

        (472102006)

        • Status:

          Excluded

          Name:

          Interrupted aortic arch between left subclavian and left common carotid artery

          Code:

          (253682003)

      • Status:

        Excluded

        Name:

        Interruption of aortic arch distal to subclavian artery

        Code:

        (472101004)

        • Status:

          Included

          Name:

          Interrupted aortic arch distal to left subclavian artery

          Code:

          (253681005)

    • Status:

      Excluded

      Name:

      Isotretinoin embryopathy-like syndrome

      Code:

      (722006004)

    • Status:

      Excluded

      Name:

      Neuhauser anomaly

      Code:

      (766751007)

    • Status:

      Excluded

      Name:

      Origin of innominate artery from left side of aortic arch

      Code:

      (15191001)

    • Status:

      Included

      Name:

      Persistent aortic arch convolutions

      Code:

      (204427001)

    • Status:

      Excluded

      Name:

      Retroesophageal aortic arch

      Code:

      (95234008)

    • Status:

      Included

      Name:

      Right aortic arch

      Code:

      (111321007)

      • Status:

        Excluded

        Name:

        Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

        Code:

        (763615003)

      • Status:

        Included

        Name:

        Right aortic arch and left descending aorta

        Code:

        (253655006)

      • Status:

        Included

        Name:

        Right aortic arch and right descending aorta

        Code:

        (253654005)

    • Status:

      Excluded

      Name:

      Right aortic arch branching pattern

      Code:

      (461629004)

    • Status:

      Included

      Name:

      Vascular ring of aorta

      Code:

      (66403007)

      • Status:

        Excluded

        Name:

        Vascular ring due to aberrant subclavian artery and bilateral arterial ducts

        Code:

        (448092000)

      • Status:

        Excluded

        Name:

        Vascular ring with left aortic arch

        Code:

        (253663007)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery

          Code:

          (448517004)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and retrotracheal right patent arterial duct

          Code:

          (448611005)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery

          Code:

          (448627003)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal right subclavian artery

          Code:

          (448153005)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum

          Code:

          (448154004)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery

          Code:

          (448628008)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery

          Code:

          (449025004)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and right arterial ligament

          Code:

          (448629000)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch and right patent arterial duct

          Code:

          (448630005)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch to right descending aorta and right arterial ligament

          Code:

          (448303009)

        • Status:

          Excluded

          Name:

          Vascular ring with left aortic arch to right descending aorta and right patent arterial duct

          Code:

          (448304003)

      • Status:

        Excluded

        Name:

        Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct

        Code:

        (448305002)

      • Status:

        Excluded

        Name:

        Vascular ring with retrotracheal right pulmonary artery from ascending aorta

        Code:

        (447997006)

      • Status:

        Included

        Name:

        Vascular ring with right aortic arch

        Code:

        (253664001)

        • Status:

          Excluded

          Name:

          Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal brachiocephalic artery

          Code:

          (460593008)

        • Status:

          Excluded

          Name:

          Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal left subclavian artery

          Code:

          (460591005)

        • Status:

          Excluded

          Name:

          Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta

          Code:

          (460594002)

          • Status:

            Excluded

            Name:

            Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta and anomalous left subclavian artery

            Code:

            (460592003)

        • Status:

          Excluded

          Name:

          Vascular ring with right aortic arch and left ligamentum arteriosum

          Code:

          (450315001)

          • Status:

            Excluded

            Name:

            Vascular ring with mirror image branching of right aortic arch and left ligamentum arteriosum

            Code:

            (460906001)

          • Status:

            Excluded

            Name:

            Vascular ring with right aortic arch and left ligamentum arteriosum between left subclavian artery and left common carotid artery

            Code:

            (460589002)

          • Status:

            Excluded

            Name:

            Vascular ring with right aortic arch and left ligamentum arteriosum with anomalous retroesophageal left subclavian artery

            Code:

            (460590006)

        • Status:

          Excluded

          Name:

          Vascular ring with right aortic arch and left patent ductus arteriosus

          Code:

          (450314002)

        • Status:

          Excluded

          Name:

          Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery

          Code:

          (448078006)

        • Status:

          Excluded

          Name:

          Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery

          Code:

          (448079003)

  • Status:

    Excluded

    Name:

    Congenital anomaly of aortic arch AND/OR descending aorta

    Code:

    (410065004)

    • Status:

      Excluded

      Name:

      Descending aorta anterior and same side as azygos vein with absent inferior vena cava

      Code:

      (707200002)

    • Status:

      Excluded

      Name:

      Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava

      Code:

      (447968008)

    • Status:

      Excluded

      Name:

      Left aortic arch and right descending aorta

      Code:

      (253653004)

    • Status:

      Included

      Name:

      Pseudocoarctation of aorta

      Code:

      (70602002)

    • Status:

      Included

      Name:

      Right aortic arch

      Code:

      (111321007)

      • Status:

        Excluded

        Name:

        Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

        Code:

        (763615003)

      • Status:

        Included

        Name:

        Right aortic arch and left descending aorta

        Code:

        (253655006)

      • Status:

        Included

        Name:

        Right aortic arch and right descending aorta

        Code:

        (253654005)

    • Status:

      Included

      Name:

      Right descending aorta

      Code:

      (253652009)

  • Status:

    Excluded

    Name:

    Congenital anomaly of descending thoracic aorta

    Code:

    (724435004)

    • Status:

      Included

      Name:

      Right descending aorta

      Code:

      (253652009)

    • Status:

      Excluded

      Name:

      Systemic to pulmonary collateral artery from descending thoracic aorta

      Code:

      (459164007)

  • Status:

    Included

    Name:

    Congenital atresia of aorta

    Code:

    (7438000)

    • Status:

      Included

      Name:

      Ascending aortic atresia

      Code:

      (253643000)

    • Status:

      Included

      Name:

      Atresia and stenosis of aorta

      Code:

      (204431007)

    • Status:

      Excluded

      Name:

      Congenital atresia of aortic arch

      Code:

      (461557000)

      • Status:

        Excluded

        Name:

        Atresia of aortic arch with fibrous cord

        Code:

        (461562004)

        • Status:

          Excluded

          Name:

          Atresia of aortic arch with fibrous cord between left common carotid artery and right common carotid artery

          Code:

          (461577007)

        • Status:

          Excluded

          Name:

          Atresia of aortic arch with fibrous cord between subclavian artery and common carotid artery

          Code:

          (461572001)

        • Status:

          Excluded

          Name:

          Atresia of aortic arch with fibrous cord distal to subclavian artery

          Code:

          (461567005)

      • Status:

        Excluded

        Name:

        Congenital luminal atresia of aortic arch between left common carotid artery and right common carotid artery

        Code:

        (461597002)

      • Status:

        Excluded

        Name:

        Congenital luminal atresia of aortic arch between subclavian artery and common carotid artery

        Code:

        (461592008)

      • Status:

        Excluded

        Name:

        Congenital luminal atresia of aortic arch distal to subclavian artery

        Code:

        (461587006)

      • Status:

        Excluded

        Name:

        Double aortic arch with left arch dominant and atresia of right arch

        Code:

        (447970004)

      • Status:

        Excluded

        Name:

        Double aortic arch with right arch dominant and atresia of left arch

        Code:

        (447849009)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum

          Code:

          (449536002)

    • Status:

      Excluded

      Name:

      Muscular subvalvar atresia of aorta

      Code:

      (448577008)

  • Status:

    Included

    Name:

    Congenital dilatation of aorta

    Code:

    (45237002)

    • Status:

      Included

      Name:

      Congenital aneurysm of aorta

      Code:

      (16972009)

      • Status:

        Excluded

        Name:

        Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall

        Code:

        (448975006)

        • Status:

          Excluded

          Name:

          Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall

          Code:

          (448843007)

      • Status:

        Included

        Name:

        Congenital aneurysm of ascending aorta

        Code:

        (253646008)

        • Status:

          Included

          Name:

          Congenital aneurysm of sinus of Valsalva

          Code:

          (54160000)

    • Status:

      Excluded

      Name:

      Congenital dilatation of aortic arch

      Code:

      (93050005)

    • Status:

      Excluded

      Name:

      Congenital dilation of ascending aorta

      Code:

      (445176007)

      • Status:

        Included

        Name:

        Congenital aneurysm of ascending aorta

        Code:

        (253646008)

        • Status:

          Included

          Name:

          Congenital aneurysm of sinus of Valsalva

          Code:

          (54160000)

      • Status:

        Excluded

        Name:

        Congenital dilatation of aortic root

        Code:

        (7991000119102)

        • Status:

          Included

          Name:

          Congenital aneurysm of sinus of Valsalva

          Code:

          (54160000)

    • Status:

      Excluded

      Name:

      Familial thoracic aortic aneurysm and aortic dissection

      Code:

      (764965000)

  • Status:

    Excluded

    Name:

    Congenital duplication of aorta

    Code:

    (93064005)

    • Status:

      Included

      Name:

      Double aortic arch

      Code:

      (10451007)

      • Status:

        Excluded

        Name:

        Double aortic arch with balanced arches

        Code:

        (447928009)

      • Status:

        Excluded

        Name:

        Double aortic arch with both patent

        Code:

        (253660005)

      • Status:

        Excluded

        Name:

        Double aortic arch with left arch dominant

        Code:

        (447929001)

        • Status:

          Excluded

          Name:

          Double aortic arch with dominant left arch and hypoplasia of right arch

          Code:

          (767309006)

        • Status:

          Excluded

          Name:

          Double aortic arch with left arch dominant and atresia of right arch

          Code:

          (447970004)

        • Status:

          Excluded

          Name:

          Double aortic arch with left arch dominant and coarctation of right arch

          Code:

          (447703009)

        • Status:

          Excluded

          Name:

          Double aortic arch with left arch dominant and right arch patent

          Code:

          (449430006)

      • Status:

        Excluded

        Name:

        Double aortic arch with right arch dominant

        Code:

        (447930006)

        • Status:

          Excluded

          Name:

          Double aortic arch with dominant right arch and hypoplasia of left arch

          Code:

          (767311002)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and atresia of left arch

          Code:

          (447849009)

          • Status:

            Excluded

            Name:

            Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum

            Code:

            (449536002)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and coarctation of left arch

          Code:

          (447850009)

        • Status:

          Excluded

          Name:

          Double aortic arch with right arch dominant and left arch patent

          Code:

          (449427004)

      • Status:

        Excluded

        Name:

        Encircling double aortic arch

        Code:

        (764521002)

      • Status:

        Excluded

        Name:

        Persisting fifth aortic arch with double barrell arch

        Code:

        (447772003)

  • Status:

    Excluded

    Name:

    Congenital hypoplasia of aorta

    Code:

    (43910005)

    • Status:

      Included

      Name:

      Congenital hypoplasia of aortic arch

      Code:

      (60787001)

      • Status:

        Excluded

        Name:

        Aortic arch hypoplasia between carotid arteries

        Code:

        (449232001)

      • Status:

        Excluded

        Name:

        Aortic arch hypoplasia between subclavian and common carotid arteries

        Code:

        (448645003)

      • Status:

        Excluded

        Name:

        Aortic arch hypoplasia distal to subclavian artery

        Code:

        (448646002)

      • Status:

        Excluded

        Name:

        Double aortic arch with dominant left arch and hypoplasia of right arch

        Code:

        (767309006)

      • Status:

        Excluded

        Name:

        Double aortic arch with dominant right arch and hypoplasia of left arch

        Code:

        (767311002)

      • Status:

        Excluded

        Name:

        Postductal hypoplasia of aorta

        Code:

        (253680006)

    • Status:

      Included

      Name:

      Congenital hypoplasia of ascending aorta

      Code:

      (12075007)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of descending aorta

      Code:

      (461366002)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of abdominal aorta

        Code:

        (461371009)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of thoracoabdominal aorta

      Code:

      (461376004)

    • Status:

      Included

      Name:

      Tubular hypoplasia of aorta

      Code:

      (253614008)

  • Status:

    Excluded

    Name:

    Congenital malposition of aorta

    Code:

    (93305002)

    • Status:

      Included

      Name:

      Dextrotransposition of aorta

      Code:

      (204299009)

      • Status:

        Included

        Name:

        Dextraposition of aorta in Fallot's tetralogy

        Code:

        (253514004)

      • Status:

        Excluded

        Name:

        Dextrotransposition of the great arteries

        Code:

        (285251000119101)

      • Status:

        Included

        Name:

        Right aortic arch

        Code:

        (111321007)

        • Status:

          Excluded

          Name:

          Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

          Code:

          (763615003)

        • Status:

          Included

          Name:

          Right aortic arch and left descending aorta

          Code:

          (253655006)

        • Status:

          Included

          Name:

          Right aortic arch and right descending aorta

          Code:

          (253654005)

      • Status:

        Included

        Name:

        Right descending aorta

        Code:

        (253652009)

      • Status:

        Excluded

        Name:

        Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery

        Code:

        (448517004)

      • Status:

        Excluded

        Name:

        Vascular ring with left aortic arch to right descending aorta and right arterial ligament

        Code:

        (448303009)

      • Status:

        Excluded

        Name:

        Vascular ring with left aortic arch to right descending aorta and right patent arterial duct

        Code:

        (448304003)

    • Status:

      Included

      Name:

      Double outlet left ventricle

      Code:

      (7368005)

    • Status:

      Excluded

      Name:

      Malalignment of aortic sinus in relation to pulmonary sinus

      Code:

      (448280008)

    • Status:

      Included

      Name:

      Overriding aorta

      Code:

      (63934006)

      • Status:

        Excluded

        Name:

        Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type

        Code:

        (871599009)

      • Status:

        Included

        Name:

        Tetralogy of Fallot

        Code:

        (86299006)

        • Status:

          Included

          Name:

          Dextraposition of aorta in Fallot's tetralogy

          Code:

          (253514004)

        • Status:

          Excluded

          Name:

          Fallot complex with intellectual disability and growth delay syndrome

          Code:

          (723336008)

        • Status:

          Included

          Name:

          Pentalogy of Fallot

          Code:

          (204306007)

        • Status:

          Excluded

          Name:

          Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

          Code:

          (766976003)

        • Status:

          Excluded

          Name:

          Tetralogy of Fallot with absent pulmonary valve

          Code:

          (399228007)

        • Status:

          Included

          Name:

          Tetralogy of Fallot with pulmonary atresia

          Code:

          (253513005)

          • Status:

            Excluded

            Name:

            Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

            Code:

            (762433009)

        • Status:

          Included

          Name:

          Tetralogy of Fallot with pulmonary stenosis

          Code:

          (253512000)

        • Status:

          Included

          Name:

          Ventricular septal defect in Fallot's tetralogy

          Code:

          (253515003)

    • Status:

      Excluded

      Name:

      Retroesophageal aortic arch

      Code:

      (95234008)

    • Status:

      Included

      Name:

      Transposition of aorta

      Code:

      (253297008)

      • Status:

        Included

        Name:

        Complete transposition of great vessels

        Code:

        (26146002)

  • Status:

    Excluded

    Name:

    Congenital stenosis of aorta

    Code:

    (21234008)

    • Status:

      Included

      Name:

      Atresia and stenosis of aorta

      Code:

      (204431007)

    • Status:

      Excluded

      Name:

      Congenital supravalvular aortic stenosis

      Code:

      (7169009)

  • Status:

    Included

    Name:

    Kommerell's diverticulum

    Code:

    (74561007)

• Status:

  Included

  Name:

  Congenital anomaly of pulmonary artery

  Code:

  (36110001)

  • Status:

    Included

    Name:

    Agenesis of pulmonary artery

    Code:

    (86252004)

  • Status:

    Included

    Name:

    Anomalous origin of pulmonary artery

    Code:

    (68092007)

    • Status:

      Excluded

      Name:

      Abnormal origin of left pulmonary artery

      Code:

      (253635005)

      • Status:

        Excluded

        Name:

        Anomalous origin of left pulmonary artery from ascending aorta

        Code:

        (253637002)

      • Status:

        Excluded

        Name:

        Anomalous origin of left pulmonary artery from ductus arteriosus

        Code:

        (253636006)

      • Status:

        Included

        Name:

        Anomalous origin of left pulmonary artery from right pulmonary artery

        Code:

        (253638007)

    • Status:

      Excluded

      Name:

      Abnormal origin of right pulmonary artery

      Code:

      (253632008)

      • Status:

        Included

        Name:

        Anomalous origin of right pulmonary artery from ascending aorta

        Code:

        (253634009)

      • Status:

        Excluded

        Name:

        Anomalous origin of right pulmonary artery from ductus arteriosus

        Code:

        (253633003)

    • Status:

      Excluded

      Name:

      Anomalous origin of pulmonary artery from ascending aorta

      Code:

      (703385008)

      • Status:

        Excluded

        Name:

        Anomalous origin of left pulmonary artery from ascending aorta

        Code:

        (253637002)

      • Status:

        Included

        Name:

        Anomalous origin of right pulmonary artery from ascending aorta

        Code:

        (253634009)

    • Status:

      Excluded

      Name:

      Anomalous origin of pulmonary artery from patent arterial duct

      Code:

      (448105006)

      • Status:

        Excluded

        Name:

        Anomalous origin of right pulmonary artery from ductus arteriosus

        Code:

        (253633003)

    • Status:

      Excluded

      Name:

      Pulmonary artery with absent proximal arterial connection

      Code:

      (449350006)

      • Status:

        Excluded

        Name:

        Left pulmonary artery with absent proximal arterial connection

        Code:

        (449576007)

      • Status:

        Excluded

        Name:

        Right pulmonary artery with absent proximal arterial connection

        Code:

        (449547009)

  • Status:

    Included

    Name:

    Coarctation of pulmonary artery

    Code:

    (26780008)

    • Status:

      Excluded

      Name:

      Coarctation of left pulmonary artery

      Code:

      (448637008)

    • Status:

      Excluded

      Name:

      Coarctation of right pulmonary artery

      Code:

      (447903001)

  • Status:

    Included

    Name:

    Collaterals to pulmonary arteries

    Code:

    (253688004)

    • Status:

      Excluded

      Name:

      Bronchopulmonary collateral artery

      Code:

      (253692006)

    • Status:

      Included

      Name:

      Stenosis of systemic to pulmonary artery collateral artery

      Code:

      (253691004)

    • Status:

      Included

      Name:

      Systemic to pulmonary collateral artery

      Code:

      (253690003)

      • Status:

        Excluded

        Name:

        Major systemic to pulmonary collateral artery

        Code:

        (458088003)

        • Status:

          Included

          Name:

          Major aortopulmonary collateral artery

          Code:

          (253689007)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery supplying both lungs

          Code:

          (450306008)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery supplying entire left lung

          Code:

          (450308009)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery supplying entire right lung

          Code:

          (450307004)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery supplying part of left lung

          Code:

          (450310006)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery supplying part of right lung

          Code:

          (450309001)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery supplying unknown zone of distribution

          Code:

          (450311005)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation

          Code:

          (461433002)

        • Status:

          Excluded

          Name:

          Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation

          Code:

          (461434008)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery connecting with artery

        Code:

        (460370001)

        • Status:

          Excluded

          Name:

          Systemic to pulmonary collateral artery connecting with central pulmonary arteries

          Code:

          (460595001)

        • Status:

          Excluded

          Name:

          Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries

          Code:

          (460596000)

        • Status:

          Excluded

          Name:

          Systemic to pulmonary collateral artery connecting with tracheobronchial arteries

          Code:

          (460597009)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery contributing to dual lung supply

        Code:

        (471274000)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from abdominal aorta

        Code:

        (459165008)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from coronary artery

        Code:

        (448478000)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from descending thoracic aorta

        Code:

        (459164007)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from left brachiocephalic artery

        Code:

        (460387004)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from left carotid artery

        Code:

        (460312001)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from left renal artery

        Code:

        (460375006)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from right brachiocephalic artery

        Code:

        (460380002)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from right carotid artery

        Code:

        (460307002)

      • Status:

        Excluded

        Name:

        Systemic to pulmonary collateral artery from right renal artery

        Code:

        (460365008)

      • Status:

        Excluded

        Name:

        Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

        Code:

        (762433009)

  • Status:

    Excluded

    Name:

    Congenital abnormality of pulmonary trunk

    Code:

    (448472004)

    • Status:

      Excluded

      Name:

      Absent pulmonary trunk

      Code:

      (448084009)

      • Status:

        Included

        Name:

        Pulmonary trunk absent with absent pulmonary artery

        Code:

        (253629005)

        • Status:

          Excluded

          Name:

          Pulmonary trunk absent with absent left pulmonary artery

          Code:

          (448059006)

        • Status:

          Excluded

          Name:

          Pulmonary trunk absent with absent right pulmonary artery

          Code:

          (448060001)

      • Status:

        Excluded

        Name:

        Pulmonary trunk absent with confluent pulmonary arteries

        Code:

        (253627007)

      • Status:

        Excluded

        Name:

        Pulmonary trunk absent with non-confluent pulmonary arteries

        Code:

        (253628002)

    • Status:

      Included

      Name:

      Coronary artery arising from main pulmonary artery

      Code:

      (74218008)

    • Status:

      Excluded

      Name:

      Pulmonary trunk atresia

      Code:

      (253623006)

      • Status:

        Excluded

        Name:

        Atresia of pulmonary trunk with absent left pulmonary artery

        Code:

        (448086006)

      • Status:

        Excluded

        Name:

        Atresia of pulmonary trunk with absent right pulmonary artery

        Code:

        (448087002)

    • Status:

      Excluded

      Name:

      Pulmonary trunk hypoplasia

      Code:

      (253622001)

    • Status:

      Excluded

      Name:

      Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

      Code:

      (764452004)

    • Status:

      Excluded

      Name:

      Right-sided pulmonary arterial trunk

      Code:

      (95242009)

    • Status:

      Excluded

      Name:

      Solitary arterial trunk

      Code:

      (253305008)

  • Status:

    Included

    Name:

    Congenital abnormality of thoracic aorta and pulmonary arteries

    Code:

    (271573009)

    • Status:

      Included

      Name:

      Major aortopulmonary collateral artery

      Code:

      (253689007)

    • Status:

      Excluded

      Name:

      Systemic to pulmonary collateral artery from descending thoracic aorta

      Code:

      (459164007)

    • Status:

      Excluded

      Name:

      Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

      Code:

      (762433009)

    • Status:

      Excluded

      Name:

      Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery

      Code:

      (448078006)

    • Status:

      Excluded

      Name:

      Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery

      Code:

      (448079003)

  • Status:

    Excluded

    Name:

    Congenital absence of left pulmonary artery

    Code:

    (25559009)

    • Status:

      Excluded

      Name:

      Atresia of pulmonary trunk with absent left pulmonary artery

      Code:

      (448086006)

    • Status:

      Excluded

      Name:

      Pulmonary trunk absent with absent left pulmonary artery

      Code:

      (448059006)

    • Status:

      Excluded

      Name:

      Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery

      Code:

      (448078006)

    • Status:

      Excluded

      Name:

      Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery

      Code:

      (448079003)

  • Status:

    Excluded

    Name:

    Congenital absence of right pulmonary artery

    Code:

    (39987008)

    • Status:

      Excluded

      Name:

      Atresia of pulmonary trunk with absent right pulmonary artery

      Code:

      (448087002)

    • Status:

      Excluded

      Name:

      Pulmonary trunk absent with absent right pulmonary artery

      Code:

      (448060001)

  • Status:

    Excluded

    Name:

    Congenital atresia of pulmonary artery

    Code:

    (10930001)

    • Status:

      Included

      Name:

      Atresia of pulmonary artery with septal defect

      Code:

      (204448004)

    • Status:

      Excluded

      Name:

      Pulmonary trunk atresia

      Code:

      (253623006)

      • Status:

        Excluded

        Name:

        Atresia of pulmonary trunk with absent left pulmonary artery

        Code:

        (448086006)

      • Status:

        Excluded

        Name:

        Atresia of pulmonary trunk with absent right pulmonary artery

        Code:

        (448087002)

  • Status:

    Excluded

    Name:

    Congenital coronary artery fistula to pulmonary artery

    Code:

    (129582000)

  • Status:

    Included

    Name:

    Congenital dilatation of pulmonary artery

    Code:

    (93059006)

    • Status:

      Excluded

      Name:

      Congenital pulmonary artery aneurysm

      Code:

      (268187005)

  • Status:

    Included

    Name:

    Congenital hypoplasia of pulmonary artery

    Code:

    (54682008)

    • Status:

      Excluded

      Name:

      Pulmonary trunk hypoplasia

      Code:

      (253622001)

    • Status:

      Included

      Name:

      Scimitar syndrome

      Code:

      (39905002)

      • Status:

        Excluded

        Name:

        Scimitar syndrome with additional anomalous pulmonary venous connection

        Code:

        (448595006)

  • Status:

    Excluded

    Name:

    Congenital malposition of pulmonary artery

    Code:

    (93347003)

    • Status:

      Included

      Name:

      Complete transposition of great vessels

      Code:

      (26146002)

    • Status:

      Excluded

      Name:

      Dextrotransposition of the great arteries

      Code:

      (285251000119101)

    • Status:

      Included

      Name:

      Double outlet left ventricle

      Code:

      (7368005)

    • Status:

      Excluded

      Name:

      Right-sided pulmonary arterial trunk

      Code:

      (95242009)

  • Status:

    Excluded

    Name:

    Congenital stenosis of pulmonary artery

    Code:

    (449125001)

    • Status:

      Excluded

      Name:

      Congenital stenosis of left pulmonary artery

      Code:

      (707371002)

    • Status:

      Excluded

      Name:

      Congenital stenosis of right pulmonary artery

      Code:

      (707372009)

    • Status:

      Excluded

      Name:

      Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

      Code:

      (764452004)

  • Status:

    Excluded

    Name:

    Discontinuous pulmonary arteries

    Code:

    (447668005)

    • Status:

      Excluded

      Name:

      Pulmonary trunk absent with non-confluent pulmonary arteries

      Code:

      (253628002)

  • Status:

    Excluded

    Name:

    Pulmonary artery connecting to coronary artery via collateral artery

    Code:

    (449085001)

  • Status:

    Excluded

    Name:

    Pulmonary atresia with absent pulmonary artery

    Code:

    (253625004)

• Status:

  Included

  Name:

  Congenital anomaly of pulmonary veins

  Code:

  (111322000)

  • Status:

    Excluded

    Name:

    Alveolar capillary dysplasia with pulmonary venous misalignment

    Code:

    (447275002)

  • Status:

    Excluded

    Name:

    Anomalous pulmonary to systemic collateral vein

    Code:

    (448486000)

  • Status:

    Excluded

    Name:

    Anomalous pulmonary venous connection of mixed type

    Code:

    (448487009)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous connection of mixed type with one pulmonary venous confluence

      Code:

      (449513006)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous connection of mixed type with two pulmonary venous confluences

      Code:

      (449521000)

    • Status:

      Excluded

      Name:

      Total anomalous pulmonary venous connections of mixed type

      Code:

      (448727008)

  • Status:

    Included

    Name:

    Anomalous pulmonary venous drainage

    Code:

    (59631007)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava

      Code:

      (22750001)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous drainage to coronary sinus

      Code:

      (29934004)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous drainage to hepatic veins

      Code:

      (32194006)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous drainage to right atrium

      Code:

      (37639005)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous drainage to superior vena cava

      Code:

      (66858001)

    • Status:

      Excluded

      Name:

      Obstructed anomalous pulmonary venous pathway

      Code:

      (870323006)

    • Status:

      Included

      Name:

      Scimitar syndrome

      Code:

      (39905002)

      • Status:

        Excluded

        Name:

        Scimitar syndrome with additional anomalous pulmonary venous connection

        Code:

        (448595006)

    • Status:

      Included

      Name:

      Total anomalous pulmonary venous return

      Code:

      (111323005)

      • Status:

        Included

        Name:

        Subdiaphragmatic total anomalous pulmonary venous return

        Code:

        (204456001)

      • Status:

        Included

        Name:

        Supradiaphragmatic total anomalous pulmonary venous return

        Code:

        (204457005)

    • Status:

      Included

      Name:

      Transposition of pulmonary veins

      Code:

      (36422005)

  • Status:

    Included

    Name:

    Anomalous termination of right pulmonary vein

    Code:

    (253321003)

  • Status:

    Excluded

    Name:

    Congenital pulmonary vein confluence

    Code:

    (128566008)

    • Status:

      Excluded

      Name:

      Congenital pulmonary venous confluence in direct proximity to left atrium

      Code:

      (727821000000106)

    • Status:

      Excluded

      Name:

      Congenital pulmonary venous confluence in horizontal orientation

      Code:

      (727811000000100)

    • Status:

      Excluded

      Name:

      Congenital pulmonary venous confluence in vertical orientation

      Code:

      (727801000000102)

    • Status:

      Excluded

      Name:

      Congenital pulmonary venous confluence remote from left atrium

      Code:

      (727831000000108)

    • Status:

      Excluded

      Name:

      Pulmonary venous confluence in direct proximity to left atrium

      Code:

      (447691009)

    • Status:

      Excluded

      Name:

      Pulmonary venous confluence in horizontal orientation

      Code:

      (447813008)

    • Status:

      Excluded

      Name:

      Pulmonary venous confluence in vertical orientation

      Code:

      (447814002)

    • Status:

      Excluded

      Name:

      Pulmonary venous confluence remote from left atrium

      Code:

      (447663001)

  • Status:

    Included

    Name:

    Congenital stenosis of pulmonary veins

    Code:

    (11614003)

  • Status:

    Excluded

    Name:

    Infracardiac location of anomalous pulmonary venous connection

    Code:

    (448499002)

    • Status:

      Excluded

      Name:

      Infracardiac location of anomalous pulmonary venous connection to hepatic vein

      Code:

      (449444000)

      • Status:

        Excluded

        Name:

        Total anomalous pulmonary venous connection to hepatic vein

        Code:

        (286341000119100)

    • Status:

      Excluded

      Name:

      Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus

      Code:

      (449495003)

    • Status:

      Excluded

      Name:

      Infracardiac location of anomalous pulmonary venous connection with two descending veins

      Code:

      (449435001)

    • Status:

      Excluded

      Name:

      Infracardiac location of anomalous pulmonary venous connections to inferior caval vein

      Code:

      (445371009)

    • Status:

      Excluded

      Name:

      Infracardiac location of anomalous pulmonary venous connections to portal system

      Code:

      (445296005)

    • Status:

      Excluded

      Name:

      Total anomalous pulmonary venous connection of infracardiac type

      Code:

      (448599000)

  • Status:

    Excluded

    Name:

    Intracardiac location of anomalous pulmonary venous connection

    Code:

    (448500006)

    • Status:

      Excluded

      Name:

      Intracardiac location of anomalous pulmonary venous connection to coronary sinus

      Code:

      (449425007)

      • Status:

        Excluded

        Name:

        Total anomalous pulmonary venous connection to coronary sinus

        Code:

        (286331000119109)

    • Status:

      Excluded

      Name:

      Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria

      Code:

      (449514000)

    • Status:

      Excluded

      Name:

      Intracardiac location of anomalous pulmonary venous connection to right atrium

      Code:

      (449452002)

      • Status:

        Excluded

        Name:

        Total anomalous pulmonary venous connection to right atrium

        Code:

        (286351000119103)

    • Status:

      Excluded

      Name:

      Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums

      Code:

      (445543002)

    • Status:

      Excluded

      Name:

      Total anomalous pulmonary venous connection of intracardiac type

      Code:

      (447914003)

      • Status:

        Excluded

        Name:

        Total anomalous pulmonary venous connection to coronary sinus

        Code:

        (286331000119109)

      • Status:

        Excluded

        Name:

        Total anomalous pulmonary venous connection to right atrium

        Code:

        (286351000119103)

  • Status:

    Included

    Name:

    Partial anomalous pulmonary venous connection

    Code:

    (68237008)

    • Status:

      Excluded

      Name:

      Partial anomalous pulmonary venous connection of entire left lung

      Code:

      (447939007)

    • Status:

      Excluded

      Name:

      Partial anomalous pulmonary venous connection of entire right lung

      Code:

      (447827003)

    • Status:

      Excluded

      Name:

      Partial anomalous pulmonary venous connection of part of left lung

      Code:

      (447664007)

    • Status:

      Excluded

      Name:

      Partial anomalous pulmonary venous connection of part of right lung

      Code:

      (447860000)

    • Status:

      Excluded

      Name:

      Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence

      Code:

      (447861001)

  • Status:

    Excluded

    Name:

    Persistent common pulmonary vein

    Code:

    (447269006)

  • Status:

    Included

    Name:

    Pulmonary vein atresia

    Code:

    (204467000)

  • Status:

    Excluded

    Name:

    Pulmonary venous hypoplasia

    Code:

    (446432002)

  • Status:

    Excluded

    Name:

    Supracardiac location of anomalous pulmonary venous connection

    Code:

    (448728003)

    • Status:

      Excluded

      Name:

      Supracardiac location of anomalous pulmonary venous connection to azygos vein

      Code:

      (449533005)

    • Status:

      Excluded

      Name:

      Supracardiac location of anomalous pulmonary venous connection to hemiazygos vein

      Code:

      (449451009)

    • Status:

      Excluded

      Name:

      Supracardiac location of anomalous pulmonary venous connection to left sided vertical vein

      Code:

      (449443006)

    • Status:

      Excluded

      Name:

      Supracardiac location of anomalous pulmonary venous connection to left superior vena cava

      Code:

      (449434002)

    • Status:

      Excluded

      Name:

      Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein

      Code:

      (449493005)

    • Status:

      Excluded

      Name:

      Supracardiac location of anomalous pulmonary venous connection to right superior vena cava

      Code:

      (449494004)

    • Status:

      Excluded

      Name:

      Total anomalous pulmonary venous connection of supracardiac type

      Code:

      (447832002)

      • Status:

        Excluded

        Name:

        Total anomalous pulmonary venous connection to superior vena cava

        Code:

        (286361000119101)

• Status:

  Included

  Name:

  Congenital biliary atresia

  Code:

  (77480004)

  • Status:

    Included

    Name:

    Atresia of hepatic ducts

    Code:

    (204782009)

  • Status:

    Excluded

    Name:

    Biliary atresia with splenic malformation syndrome

    Code:

    (717156002)

  • Status:

    Included

    Name:

    Congenital atresia of extrahepatic bile duct

    Code:

    (82821008)

  • Status:

    Included

    Name:

    Ichthyosis congenita with biliary atresia

    Code:

    (235916001)

  • Status:

    Included

    Name:

    Intrahepatic biliary atresia

    Code:

    (253807009)

• Status:

  Included

  Name:

  Congenital bronchiectasis

  Code:

  (77593006)

  • Status:

    Included

    Name:

    Congenital cystic bronchiectasis

    Code:

    (233627004)

• Status:

  Included

  Name:

  Congenital heart disease

  Code:

  (13213009)

  • Status:

    Excluded

    Name:

    Acyanotic congenital heart disease

    Code:

    (78485007)

  • Status:

    Included

    Name:

    Andersen Tawil syndrome

    Code:

    (422348008)

  • Status:

    Excluded

    Name:

    Atrioventricular septal defect associated with tetralogy of Fallot

    Code:

    (448007000)

  • Status:

    Excluded

    Name:

    Bifid apex of heart

    Code:

    (444851003)

  • Status:

    Excluded

    Name:

    Bosley Salih Alorainy syndrome

    Code:

    (720567008)

  • Status:

    Excluded

    Name:

    Brain malformation, congenital heart disease, postaxial polydactyly syndrome

    Code:

    (717943008)

  • Status:

    Included

    Name:

    Bulbus cordis and cardiac septal closure anomalies

    Code:

    (268174004)

  • Status:

    Excluded

    Name:

    Cardiac anomaly and heterotaxy syndrome

    Code:

    (720605009)

  • Status:

    Excluded

    Name:

    Cardiocranial syndrome Pfeiffer type

    Code:

    (720606005)

  • Status:

    Excluded

    Name:

    Carney complex

    Code:

    (733491005)

  • Status:

    Excluded

    Name:

    Carney complex, trismus, pseudocamptodactyly syndrome

    Code:

    (766881008)

  • Status:

    Excluded

    Name:

    Cataract, congenital heart disease, neural tube defect syndrome

    Code:

    (726704006)

  • Status:

    Excluded

    Name:

    Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome

    Code:

    (719456001)

  • Status:

    Excluded

    Name:

    Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome

    Code:

    (720639008)

  • Status:

    Included

    Name:

    Congenital abnormality of cardiac connection

    Code:

    (253272009)

    • Status:

      Included

      Name:

      Abnormal atrioventricular connection

      Code:

      (253274005)

      • Status:

        Included

        Name:

        Abnormal atrioventricular connection - biventricular

        Code:

        (253275006)

        • Status:

          Included

          Name:

          Discordant atrioventricular connection

          Code:

          (253277003)

      • Status:

        Included

        Name:

        Abnormal atrioventricular connection - univentricular

        Code:

        (253280002)

        • Status:

          Included

          Name:

          Absent left sided atrioventricular connection

          Code:

          (253290005)

          • Status:

            Included

            Name:

            Left ventricular-right atrial communication

            Code:

            (41893002)

          • Status:

            Excluded

            Name:

            Right sided atrium connecting to both ventricles

            Code:

            (253293007)

          • Status:

            Included

            Name:

            Right sided atrium connecting to right ventricle

            Code:

            (253291009)

          • Status:

            Included

            Name:

            Right sided atrium connecting to ventricle of indeterminate morphology

            Code:

            (253294001)

          • Status:

            Excluded

            Name:

            Univentricular atrioventricular connection with absent left sided atrioventricular connection

            Code:

            (448625006)

        • Status:

          Excluded

          Name:

          Absent right sided atrioventricular connection

          Code:

          (253285007)

          • Status:

            Excluded

            Name:

            Left sided atrium connecting to both ventricles

            Code:

            (253288009)

          • Status:

            Included

            Name:

            Left sided atrium connecting to left ventricle

            Code:

            (253286008)

          • Status:

            Excluded

            Name:

            Left sided atrium connecting to right ventricle

            Code:

            (253287004)

          • Status:

            Included

            Name:

            Left sided atrium connecting to ventricle of indeterminate morphology

            Code:

            (253289001)

          • Status:

            Excluded

            Name:

            Tricuspid atresia with absent right atrioventricular connection

            Code:

            (871655005)

          • Status:

            Excluded

            Name:

            Univentricular atrioventricular connection with absent right sided atrioventricular connection

            Code:

            (447919008)

        • Status:

          Included

          Name:

          Double inlet ventricle

          Code:

          (253281003)

          • Status:

            Excluded

            Name:

            Abnormality of left atrioventricular valve in double inlet ventricle

            Code:

            (253483002)

            • Status:

              Excluded

              Name:

              Abnormality of left atrioventricular valve chordae tendinae

              Code:

              (253501000)

              • Status:

                Excluded

                Name:

                Arcade abnormality of left atrioventricular valve chordae

                Code:

                (253505009)

              • Status:

                Excluded

                Name:

                Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle

                Code:

                (449098005)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve chordae to outlet septum

                Code:

                (253504008)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve chordae too long

                Code:

                (253503002)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve chordae too short

                Code:

                (253502007)

            • Status:

              Excluded

              Name:

              Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle

              Code:

              (460614005)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve atresia

              Code:

              (253484008)

              • Status:

                Excluded

                Name:

                Imperforate left atrioventricular valve

                Code:

                (253485009)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve dysplasia

              Code:

              (253486005)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve leaflet dysplasia

                Code:

                (253500004)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve hypoplasia

              Code:

              (253487001)

              • Status:

                Excluded

                Name:

                Hypoplasia of left atrioventricular valve annulus in double inlet ventricle

                Code:

                (449228007)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve leaflet abnormality

              Code:

              (253493009)

              • Status:

                Excluded

                Name:

                Absent left atrioventricular valve leaflets

                Code:

                (253494003)

              • Status:

                Excluded

                Name:

                Accessory tissue on left atrioventricular valve leaflet

                Code:

                (253499008)

              • Status:

                Excluded

                Name:

                Associated mass of left atrioventricular valve leaflet

                Code:

                (759611000000105)

              • Status:

                Excluded

                Name:

                Double orifice of left atrioventricular valve

                Code:

                (253495002)

              • Status:

                Excluded

                Name:

                Flail of left atrioventricular valve leaflet

                Code:

                (759641000000106)

              • Status:

                Excluded

                Name:

                Gelatinous left atrioventricular valve leaflet

                Code:

                (759621000000104)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve leaflet dysplasia

                Code:

                (253500004)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve prolapse

                Code:

                (253497005)

              • Status:

                Excluded

                Name:

                Noncoapting left atrioventricular valve leaflet

                Code:

                (759631000000102)

              • Status:

                Excluded

                Name:

                True cleft of left atrioventricular valve leaflet

                Code:

                (253498000)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve stenosis in double inlet ventricle

              Code:

              (449099002)

            • Status:

              Excluded

              Name:

              Overriding left atrioventricular valve

              Code:

              (253489003)

            • Status:

              Excluded

              Name:

              Straddling left atrioventricular valve

              Code:

              (253492004)

          • Status:

            Excluded

            Name:

            Congenital anomaly of left-sided atrioventricular valve in double inlet ventricle

            Code:

            (871583003)

          • Status:

            Included

            Name:

            Double inlet left ventricle

            Code:

            (253283000)

          • Status:

            Included

            Name:

            Double inlet right ventricle

            Code:

            (253282005)

            • Status:

              Excluded

              Name:

              Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle

              Code:

              (871585005)

          • Status:

            Excluded

            Name:

            Double inlet to solitary ventricle of indeterminate morphology

            Code:

            (871659004)

          • Status:

            Excluded

            Name:

            Double inlet to ventricle of indeterminate morphology

            Code:

            (253284006)

          • Status:

            Excluded

            Name:

            Hypoplasia of right atrioventricular valve annulus in double inlet ventricle

            Code:

            (449040002)

        • Status:

          Excluded

          Name:

          Functional single ventricle

          Code:

          (443379009)

        • Status:

          Excluded

          Name:

          Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice)

          Code:

          (445330003)

        • Status:

          Excluded

          Name:

          Two atrioventricular valves in double inlet ventricle

          Code:

          (446667008)

      • Status:

        Excluded

        Name:

        Absent atrioventricular connection with straddling valve

        Code:

        (253279000)

        • Status:

          Excluded

          Name:

          Absent left sided atrioventricular connection with straddling valve

          Code:

          (726581000000107)

        • Status:

          Excluded

          Name:

          Absent right sided atrioventricular connection with straddling valve

          Code:

          (726571000000105)

        • Status:

          Excluded

          Name:

          Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve

          Code:

          (448624005)

        • Status:

          Excluded

          Name:

          Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve

          Code:

          (448075009)

      • Status:

        Excluded

        Name:

        Ambiguous atrioventricular connection

        Code:

        (253278008)

      • Status:

        Excluded

        Name:

        Atresia of mitral valve with absent atrioventricular connection

        Code:

        (838333005)

      • Status:

        Excluded

        Name:

        Single inlet ventricle with absent atrioventricular connection

        Code:

        (448072007)

    • Status:

      Excluded

      Name:

      Abnormal connection of hepatic vein to atrium

      Code:

      (253333008)

      • Status:

        Excluded

        Name:

        Hepatic vein to left atrium and right atrium

        Code:

        (449016005)

      • Status:

        Excluded

        Name:

        Hepatic vein to left sided atrium

        Code:

        (449014008)

      • Status:

        Excluded

        Name:

        Hepatic vein to right sided atrium

        Code:

        (449015009)

    • Status:

      Included

      Name:

      Abnormal ventriculoarterial connection

      Code:

      (253295000)

      • Status:

        Excluded

        Name:

        Abnormal ventriculoarterial connection with usual origin of left coronary artery from aortic sinus to right of nonfacing aortic sinus and usual origin of right coronary artery from aortic sinus to left of nonfacing aortic sinus

        Code:

        (472820000)

      • Status:

        Excluded

        Name:

        Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus

        Code:

        (471285003)

        • Status:

          Excluded

          Name:

          Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471289009)

        • Status:

          Excluded

          Name:

          Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471293003)

        • Status:

          Excluded

          Name:

          Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471290000)

        • Status:

          Excluded

          Name:

          Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471287006)

        • Status:

          Excluded

          Name:

          Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

          Code:

          (471292008)

        • Status:

          Included

          Name:

          Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471291001)

        • Status:

          Excluded

          Name:

          Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471298007)

      • Status:

        Included

        Name:

        Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus

        Code:

        (471286002)

        • Status:

          Excluded

          Name:

          Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471289009)

        • Status:

          Excluded

          Name:

          Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471293003)

        • Status:

          Excluded

          Name:

          Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471290000)

        • Status:

          Excluded

          Name:

          Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus

          Code:

          (471288001)

        • Status:

          Excluded

          Name:

          Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

          Code:

          (471292008)

        • Status:

          Included

          Name:

          Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

          Code:

          (471291001)

        • Status:

          Excluded

          Name:

          Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus

          Code:

          (471299004)

      • Status:

        Excluded

        Name:

        Anomalous origin of single coronary artery from nonfacing aortic sinus

        Code:

        (471297002)

      • Status:

        Included

        Name:

        Discordant ventriculoarterial connection

        Code:

        (204296002)

        • Status:

          Included

          Name:

          Corrected transposition of great vessels

          Code:

          (83799000)

        • Status:

          Excluded

          Name:

          D - transposition of the great vessels

          Code:

          (399216004)

        • Status:

          Included

          Name:

          Incomplete great vessel transposition

          Code:

          (204300001)

        • Status:

          Excluded

          Name:

          L - transposition of the great vessels

          Code:

          (399046008)

        • Status:

          Included

          Name:

          Transposition of aorta

          Code:

          (253297008)

          • Status:

            Included

            Name:

            Complete transposition of great vessels

            Code:

            (26146002)

        • Status:

          Excluded

          Name:

          Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect

          Code:

          (871603009)

        • Status:

          Excluded

          Name:

          Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction

          Code:

          (871605002)

      • Status:

        Excluded

        Name:

        Double outlet from ventricle of indeterminate morphology

        Code:

        (253301004)

      • Status:

        Included

        Name:

        Double outlet left ventricle

        Code:

        (7368005)

      • Status:

        Included

        Name:

        Double outlet right ventricle

        Code:

        (7484005)

        • Status:

          Included

          Name:

          Double outlet right ventricle with doubly committed ventricular septal defect

          Code:

          (253300003)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

            Code:

            (448516008)

        • Status:

          Excluded

          Name:

          Double outlet right ventricle with intact ventricular septum

          Code:

          (447284002)

        • Status:

          Excluded

          Name:

          Double outlet right ventricle with noncommitted ventricular septal defect

          Code:

          (253299006)

        • Status:

          Excluded

          Name:

          Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type

          Code:

          (762251008)

        • Status:

          Included

          Name:

          Double outlet right ventricle with subaortic ventricular septal defect

          Code:

          (253298003)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type

            Code:

            (871599009)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type

            Code:

            (871601006)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

            Code:

            (840507004)

        • Status:

          Included

          Name:

          Double outlet right ventricle with subpulmonary ventricular septal defect

          Code:

          (448794008)

      • Status:

        Excluded

        Name:

        Double outlet ventriculoarterial connections

        Code:

        (447932003)

        • Status:

          Excluded

          Name:

          Doubly committed ventricular septal defect in double outlet ventriculoarterial connection

          Code:

          (449178002)

      • Status:

        Excluded

        Name:

        Single outlet ventriculoarterial connection

        Code:

        (253302006)

        • Status:

          Included

          Name:

          Common truncus arteriosus

          Code:

          (61959006)

          • Status:

            Included

            Name:

            Common arterial trunk and common origin of pulmonary arteries

            Code:

            (73699003)

          • Status:

            Included

            Name:

            Common arterial trunk and separate origin of pulmonary arteries

            Code:

            (60106004)

          • Status:

            Excluded

            Name:

            Common arterial trunk and widely separate origin of pulmonary arteries

            Code:

            (85081000)

          • Status:

            Excluded

            Name:

            Common arterial trunk with aortic dominance

            Code:

            (762252001)

          • Status:

            Excluded

            Name:

            Common arterial trunk with crossed over pulmonary arteries

            Code:

            (448120000)

          • Status:

            Excluded

            Name:

            Common arterial trunk with isolated pulmonary artery

            Code:

            (448887003)

          • Status:

            Excluded

            Name:

            Common arterial trunk with obstruction of aortic arch

            Code:

            (448809003)

          • Status:

            Excluded

            Name:

            Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch

            Code:

            (447988007)

          • Status:

            Excluded

            Name:

            Common arterial trunk with pulmonary dominance

            Code:

            (871647003)

          • Status:

            Excluded

            Name:

            Common arterial trunk with pulmonary dominance and aortic coarctation

            Code:

            (871650000)

          • Status:

            Excluded

            Name:

            Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch

            Code:

            (762253006)

          • Status:

            Excluded

            Name:

            Common arterial trunk with pulmonary origin from truncal valve sinus

            Code:

            (448747000)

          • Status:

            Excluded

            Name:

            Truncus arteriosus, Edwards' type IV

            Code:

            (111319002)

        • Status:

          Excluded

          Name:

          Single ventricular outlet above both ventricles

          Code:

          (448612003)

        • Status:

          Excluded

          Name:

          Single ventricular outlet above left ventricle

          Code:

          (447999009)

        • Status:

          Excluded

          Name:

          Single ventricular outlet above right ventricle

          Code:

          (447998001)

        • Status:

          Excluded

          Name:

          Single ventricular outlet above ventricle of indeterminate morphology

          Code:

          (448080000)

        • Status:

          Excluded

          Name:

          Solitary arterial trunk

          Code:

          (253305008)

        • Status:

          Excluded

          Name:

          Solitary pulmonary trunk with aortic atresia

          Code:

          (253304007)

    • Status:

      Included

      Name:

      Anomalous coronary artery communication

      Code:

      (270510008)

      • Status:

        Included

        Name:

        Anomalous origin of coronary artery

        Code:

        (75398000)

        • Status:

          Included

          Name:

          Anomalous origin of coronary artery from aorta

          Code:

          (461105005)

          • Status:

            Excluded

            Name:

            Anomalous origin of accessory coronary artery from aortic sinus

            Code:

            (460581004)

          • Status:

            Excluded

            Name:

            Anomalous origin of conus artery from separate aortic sinus orifice

            Code:

            (460471001)

          • Status:

            Excluded

            Name:

            Anomalous origin of coronary arteries from anterior aortic sinus

            Code:

            (460510005)

          • Status:

            Excluded

            Name:

            Anomalous origin of coronary arteries from both aortic sinuses of bicuspid valve

            Code:

            (460517008)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus

            Code:

            (461435009)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from right coronary aortic sinus

            Code:

            (460588005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from right coronary aortic sinus

            Code:

            (460930004)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from left coronary artery aortic sinus

            Code:

            (460923005)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of single coronary artery from left coronary artery aortic sinus

            Code:

            (460587000)

          • Status:

            Excluded

            Name:

            Anomalous origin of single coronary artery from right coronary artery aortic sinus

            Code:

            (460937001)

          • Status:

            Excluded

            Name:

            Anomalous origin of sinus node coronary artery from separate aortic sinus orifice

            Code:

            (460583001)

          • Status:

            Excluded

            Name:

            Aortopulmonary coronary arterial course

            Code:

            (780842009)

        • Status:

          Included

          Name:

          Anomalous origin of coronary artery from pulmonary arterial tree

          Code:

          (253706007)

          • Status:

            Excluded

            Name:

            Anomalous origin of accessory coronary artery from pulmonary artery

            Code:

            (459066006)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from left pulmonary artery

            Code:

            (253708008)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from right pulmonary artery

            Code:

            (253707003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from pulmonary artery

            Code:

            (458039003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from pulmonary artery

            Code:

            (450301003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending coronary artery from pulmonary artery

              Code:

              (450302005)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from pulmonary artery

            Code:

            (450300002)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

          • Status:

            Included

            Name:

            Coronary artery arising from main pulmonary artery

            Code:

            (74218008)

        • Status:

          Excluded

          Name:

          Anomalous origin of large conus artery from right coronary artery

          Code:

          (460438000)

        • Status:

          Excluded

          Name:

          Anomalous origin of left coronary artery

          Code:

          (473444001)

          • Status:

            Excluded

            Name:

            Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471289009)

          • Status:

            Excluded

            Name:

            Anomalous origin of dual left anterior descending coronary arteries

            Code:

            (461436005)

            • Status:

              Included

              Name:

              Anomalous origin of dual left anterior descending coronary arteries from right coronary artery and left coronary artery

              Code:

              (460437005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471293003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471290000)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus

            Code:

            (461435009)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from pulmonary artery

            Code:

            (458039003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from right coronary aortic sinus

            Code:

            (460588005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471287006)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus

            Code:

            (471288001)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from pulmonary artery

            Code:

            (450301003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending coronary artery from pulmonary artery

              Code:

              (450302005)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from right coronary aortic sinus

            Code:

            (460930004)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from right coronary artery

            Code:

            (460538002)

            • Status:

              Included

              Name:

              Anomalous origin of left anterior descending from right coronary artery

              Code:

              (253704005)

            • Status:

              Excluded

              Name:

              Anomalous origin of left circumflex artery from right coronary artery

              Code:

              (55546004)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

            Code:

            (471292008)

          • Status:

            Included

            Name:

            Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471291001)

        • Status:

          Excluded

          Name:

          Anomalous origin of right coronary artery

          Code:

          (473443007)

          • Status:

            Excluded

            Name:

            Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471289009)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471293003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471290000)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471287006)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus

            Code:

            (471288001)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

            Code:

            (471292008)

          • Status:

            Included

            Name:

            Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471291001)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from left coronary artery

            Code:

            (460586009)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left anterior descending coronary artery

              Code:

              (460524009)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left circumflex coronary artery

              Code:

              (460531008)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from left coronary artery aortic sinus

            Code:

            (460923005)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from pulmonary artery

            Code:

            (450300002)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

        • Status:

          Included

          Name:

          Variant coronary origin from aortic sinus

          Code:

          (253700001)

          • Status:

            Excluded

            Name:

            Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471285003)

            • Status:

              Excluded

              Name:

              Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471289009)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471293003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471290000)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471287006)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

              Code:

              (471292008)

            • Status:

              Included

              Name:

              Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471291001)

            • Status:

              Excluded

              Name:

              Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471298007)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus

            Code:

            (471286002)

            • Status:

              Excluded

              Name:

              Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471289009)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471293003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471290000)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus

              Code:

              (471288001)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

              Code:

              (471292008)

            • Status:

              Included

              Name:

              Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471291001)

            • Status:

              Excluded

              Name:

              Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus

              Code:

              (471299004)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from non-facing sinus

            Code:

            (253703004)

            • Status:

              Excluded

              Name:

              Anomalous origin of single coronary artery from nonfacing aortic sinus

              Code:

              (471297002)

      • Status:

        Excluded

        Name:

        Aortic left ventricular tunnel with right coronary artery from tunnel

        Code:

        (448095003)

      • Status:

        Excluded

        Name:

        Systemic to coronary collateral artery

        Code:

        (460913001)

    • Status:

      Excluded

      Name:

      Anomalous coronary venous return

      Code:

      (448181004)

      • Status:

        Excluded

        Name:

        Coronary sinus drainage cephalad to left superior vena cava

        Code:

        (448278002)

      • Status:

        Excluded

        Name:

        Coronary sinus drainage cephalad to right superior vena cava

        Code:

        (448356006)

    • Status:

      Excluded

      Name:

      Aorta to right ventricle tunnel

      Code:

      (253650001)

    • Status:

      Included

      Name:

      Aortic left ventricular tunnel

      Code:

      (26201005)

      • Status:

        Excluded

        Name:

        Aortic left ventricular tunnel with right coronary artery from tunnel

        Code:

        (448095003)

      • Status:

        Excluded

        Name:

        Aortico-left ventricular tunnel of simple type

        Code:

        (448842002)

      • Status:

        Excluded

        Name:

        Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall

        Code:

        (448975006)

        • Status:

          Excluded

          Name:

          Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall

          Code:

          (448843007)

      • Status:

        Excluded

        Name:

        Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion

        Code:

        (449398002)

        • Status:

          Excluded

          Name:

          Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall

          Code:

          (448843007)

    • Status:

      Included

      Name:

      Atrioventricular septal defect and common atrioventricular junction

      Code:

      (253414002)

      • Status:

        Included

        Name:

        Atrioventricular septal defect - isolated ventricular component

        Code:

        (253415001)

      • Status:

        Included

        Name:

        Atrioventricular septal defect - ventricular component

        Code:

        (253417009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect - ventricular component under inferior bridging leaflet

          Code:

          (253422009)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet

            Code:

            (448182006)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum

            Code:

            (449379004)

        • Status:

          Included

          Name:

          Atrioventricular septal defect - ventricular component under superior bridging leaflet

          Code:

          (253418004)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet

            Code:

            (448183001)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall

            Code:

            (253421002)

          • Status:

            Included

            Name:

            Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum

            Code:

            (253419007)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum

            Code:

            (253420001)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest

            Code:

            (448919005)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with restrictive ventricular component

          Code:

          (448331000)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices

          Code:

          (448184007)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

        Code:

        (448118003)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with balanced ventricles

        Code:

        (871643004)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with common atrioventricular orifice

        Code:

        (444961009)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with separate atrioventricular orifices

        Code:

        (445002005)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle

        Code:

        (445264002)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle

        Code:

        (445299003)

      • Status:

        Included

        Name:

        Atrioventricular septal defect: atrial and ventricular components

        Code:

        (253416000)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle

          Code:

          (840497008)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle

          Code:

          (840517009)

      • Status:

        Excluded

        Name:

        Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

        Code:

        (871625003)

    • Status:

      Excluded

      Name:

      Atrioventricular septal defect with additional muscular ventricular septal defect

      Code:

      (445334007)

    • Status:

      Excluded

      Name:

      Atrioventricular septal defect with atrioventricular valve regurgitation

      Code:

      (448119006)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure

        Code:

        (449459006)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure

        Code:

        (449456004)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure

        Code:

        (449457008)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure

        Code:

        (449537006)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure

        Code:

        (449538001)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure

        Code:

        (449539009)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure

        Code:

        (449490008)

    • Status:

      Excluded

      Name:

      Atrioventricular septal defect with ventricular imbalance

      Code:

      (871630004)

    • Status:

      Excluded

      Name:

      Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome

      Code:

      (763066009)

    • Status:

      Excluded

      Name:

      Congenital coronary artery fistula

      Code:

      (11433004)

      • Status:

        Included

        Name:

        Congenital coronary arteriovenous fistula

        Code:

        (253720000)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to left atrium

        Code:

        (128555001)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to left ventricle

        Code:

        (128556000)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to pulmonary artery

        Code:

        (129582000)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to right atrium

        Code:

        (128557009)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to right ventricle

        Code:

        (128558004)

    • Status:

      Excluded

      Name:

      Continuity between mitral valve and pulmonary valve

      Code:

      (447681003)

    • Status:

      Included

      Name:

      Cor triloculare

      Code:

      (204397009)

    • Status:

      Excluded

      Name:

      Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum

      Code:

      (871604003)

    • Status:

      Excluded

      Name:

      Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim

      Code:

      (871636005)

    • Status:

      Excluded

      Name:

      Ebstein's anomaly with atrial septal defect

      Code:

      (17394001)

    • Status:

      Included

      Name:

      Fallot's trilogy

      Code:

      (204351007)

    • Status:

      Excluded

      Name:

      Hepatic vein to coronary sinus

      Code:

      (448081001)

    • Status:

      Included

      Name:

      Lutembacher's syndrome

      Code:

      (204319006)

    • Status:

      Excluded

      Name:

      Lymphedema, atrial septal defect, facial changes syndrome

      Code:

      (721978002)

    • Status:

      Excluded

      Name:

      Membranous ventricular septum defect

      Code:

      (94150003)

    • Status:

      Included

      Name:

      Ostium primum defect

      Code:

      (17718000)

    • Status:

      Excluded

      Name:

      Right superior vena cava connecting to coronary sinus

      Code:

      (448113007)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to coronary sinus and left sided atrium

        Code:

        (727161000000106)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to coronary sinus and right sided atrium

        Code:

        (727151000000108)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to coronary sinus and then to left sided atrium

        Code:

        (449458003)

      • Status:

        Excluded

        Name:

        Right superior vena cava persisting to coronary sinus and then to right sided atrium

        Code:

        (449523002)

  • Status:

    Excluded

    Name:

    Congenital abnormality of cardiac vein

    Code:

    (447938004)

    • Status:

      Excluded

      Name:

      Anomalous coronary venous return

      Code:

      (448181004)

      • Status:

        Excluded

        Name:

        Coronary sinus drainage cephalad to left superior vena cava

        Code:

        (448278002)

      • Status:

        Excluded

        Name:

        Coronary sinus drainage cephalad to right superior vena cava

        Code:

        (448356006)

    • Status:

      Excluded

      Name:

      Anomalous pulmonary venous drainage to coronary sinus

      Code:

      (29934004)

    • Status:

      Included

      Name:

      Anomalous valve of coronary sinus

      Code:

      (253343006)

    • Status:

      Included

      Name:

      Atrial septal defect through coronary sinus orifice

      Code:

      (253371000)

    • Status:

      Excluded

      Name:

      Congenital abnormality of anterior cardiac vein

      Code:

      (449532000)

    • Status:

      Excluded

      Name:

      Congenital abnormality of great cardiac vein

      Code:

      (449442001)

    • Status:

      Included

      Name:

      Congenital abnormality of great veins and coronary sinus

      Code:

      (234132006)

      • Status:

        Excluded

        Name:

        Right superior vena cava connecting to coronary sinus

        Code:

        (448113007)

        • Status:

          Excluded

          Name:

          Right superior vena cava connecting to coronary sinus and left sided atrium

          Code:

          (727161000000106)

        • Status:

          Excluded

          Name:

          Right superior vena cava connecting to coronary sinus and right sided atrium

          Code:

          (727151000000108)

        • Status:

          Excluded

          Name:

          Right superior vena cava connecting to coronary sinus and then to left sided atrium

          Code:

          (449458003)

        • Status:

          Excluded

          Name:

          Right superior vena cava persisting to coronary sinus and then to right sided atrium

          Code:

          (449523002)

    • Status:

      Excluded

      Name:

      Congenital abnormality of middle cardiac vein

      Code:

      (447825006)

    • Status:

      Excluded

      Name:

      Congenital abnormality of posterior cardiac vein of left ventricle

      Code:

      (448063004)

    • Status:

      Included

      Name:

      Congenital absence of coronary sinus

      Code:

      (40272001)

    • Status:

      Included

      Name:

      Congenital atresia of cardiac vein

      Code:

      (48520006)

      • Status:

        Excluded

        Name:

        Coronary sinus orifice atresia

        Code:

        (253326008)

    • Status:

      Included

      Name:

      Congenital coronary arteriovenous fistula

      Code:

      (253720000)

    • Status:

      Included

      Name:

      Congenital coronary sinus stenosis

      Code:

      (253327004)

    • Status:

      Included

      Name:

      Congenital enlargement of coronary sinus

      Code:

      (37104009)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of cardiac vein

      Code:

      (72252007)

    • Status:

      Excluded

      Name:

      Congenital occlusion of coronary sinus

      Code:

      (473393007)

    • Status:

      Excluded

      Name:

      Coronary sinus defect in left atrium

      Code:

      (253324006)

      • Status:

        Excluded

        Name:

        Completely unroofed coronary sinus defect in left atrium

        Code:

        (447913009)

    • Status:

      Excluded

      Name:

      Diverticulum of coronary sinus

      Code:

      (447661004)

    • Status:

      Excluded

      Name:

      Hepatic vein to coronary sinus

      Code:

      (448081001)

    • Status:

      Excluded

      Name:

      Interatrial communication through coronary sinus orifice

      Code:

      (447665008)

  • Status:

    Included

    Name:

    Congenital abnormality of relationship of cardiac component

    Code:

    (253267000)

    • Status:

      Excluded

      Name:

      Abnormal relationship of aortic orifice to pulmonary orifice

      Code:

      (253270001)

      • Status:

        Excluded

        Name:

        Aortic orifice anterior with respect to pulmonary orifice

        Code:

        (445298006)

        • Status:

          Excluded

          Name:

          Aortic orifice anterior left with respect to pulmonary orifice

          Code:

          (445650008)

        • Status:

          Excluded

          Name:

          Aortic orifice anterior right with respect to pulmonary orifice

          Code:

          (445636003)

      • Status:

        Excluded

        Name:

        Aortic orifice left side by side with respect to pulmonary orifice

        Code:

        (445270008)

      • Status:

        Excluded

        Name:

        Aortic orifice posterior with respect to pulmonary orifice

        Code:

        (445373007)

        • Status:

          Excluded

          Name:

          Aortic orifice posterior left with respect to pulmonary orifice

          Code:

          (445607003)

      • Status:

        Excluded

        Name:

        Aortic orifice right side by side with respect to pulmonary orifice

        Code:

        (446670007)

    • Status:

      Excluded

      Name:

      Abnormal relationship of right ventricle to left ventricle

      Code:

      (253268005)

      • Status:

        Excluded

        Name:

        Left hand pattern ventricular topology

        Code:

        (866118008)

      • Status:

        Excluded

        Name:

        Right hand pattern ventricular topology

        Code:

        (871613001)

      • Status:

        Excluded

        Name:

        Right ventricle inferior to left ventricle

        Code:

        (448103004)

      • Status:

        Excluded

        Name:

        Right ventricle posterior to left ventricle

        Code:

        (447845003)

      • Status:

        Excluded

        Name:

        Right ventricle to left of left ventricle

        Code:

        (447673004)

      • Status:

        Excluded

        Name:

        Superior to inferior ventricular relationship

        Code:

        (448477005)

    • Status:

      Excluded

      Name:

      Malalignment of aortic sinus in relation to pulmonary sinus

      Code:

      (448280008)

    • Status:

      Included

      Name:

      Mirror-imaged heart

      Code:

      (253271002)

  • Status:

    Excluded

    Name:

    Congenital absence of heart structure

    Code:

    (413905004)

    • Status:

      Excluded

      Name:

      Absent right atrioventricular valve leaflets

      Code:

      (253465005)

      • Status:

        Excluded

        Name:

        Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice)

        Code:

        (445330003)

    • Status:

      Included

      Name:

      Acardia

      Code:

      (205834002)

      • Status:

        Excluded

        Name:

        Acardius

        Code:

        (84648007)

        • Status:

          Excluded

          Name:

          Acardiacus anceps

          Code:

          (4313003)

      • Status:

        Excluded

        Name:

        Holoacardius acephalus

        Code:

        (35577008)

      • Status:

        Excluded

        Name:

        Holoacardius acormus

        Code:

        (59554006)

      • Status:

        Excluded

        Name:

        Holoacardius amorphus

        Code:

        (41049003)

    • Status:

      Included

      Name:

      Common ventricle

      Code:

      (45503006)

      • Status:

        Excluded

        Name:

        Functional single ventricle

        Code:

        (443379009)

      • Status:

        Excluded

        Name:

        Single left ventricle

        Code:

        (109426009)

      • Status:

        Excluded

        Name:

        Single right ventricle

        Code:

        (109425008)

    • Status:

      Included

      Name:

      Congenital absence of aortic valve

      Code:

      (92960007)

      • Status:

        Excluded

        Name:

        Absent aortic valve cusp

        Code:

        (448634001)

    • Status:

      Excluded

      Name:

      Congenital absence of chordae tendineae

      Code:

      (92963009)

      • Status:

        Excluded

        Name:

        Absence of mitral chordae tendinae

        Code:

        (449005003)

        • Status:

          Excluded

          Name:

          Absence of primary mitral chordae tendinae

          Code:

          (449563001)

      • Status:

        Excluded

        Name:

        Congenital absence of chordae tendineae of tricuspid valve

        Code:

        (876846006)

    • Status:

      Included

      Name:

      Congenital absence of coronary artery

      Code:

      (5230009)

    • Status:

      Included

      Name:

      Congenital absence of coronary sinus

      Code:

      (40272001)

    • Status:

      Excluded

      Name:

      Congenital absence of mitral valve

      Code:

      (92969008)

      • Status:

        Excluded

        Name:

        Absence of mitral chordae tendinae

        Code:

        (449005003)

        • Status:

          Excluded

          Name:

          Absence of primary mitral chordae tendinae

          Code:

          (449563001)

      • Status:

        Excluded

        Name:

        Absent mitral papillary muscle

        Code:

        (253411005)

    • Status:

      Excluded

      Name:

      Congenital absence of papillary muscle

      Code:

      (92974000)

      • Status:

        Excluded

        Name:

        Absent common atrioventricular valve papillary muscle

        Code:

        (253451008)

      • Status:

        Excluded

        Name:

        Absent left atrioventricular valve papillary muscle

        Code:

        (253508006)

      • Status:

        Excluded

        Name:

        Absent mitral papillary muscle

        Code:

        (253411005)

      • Status:

        Excluded

        Name:

        Absent right atrioventricular valve papillary muscle

        Code:

        (253480004)

      • Status:

        Excluded

        Name:

        Absent tricuspid papillary muscle

        Code:

        (253392000)

    • Status:

      Included

      Name:

      Congenital absence of pulmonary valve

      Code:

      (6996004)

      • Status:

        Excluded

        Name:

        Absence of pulmonary valve cusp

        Code:

        (449133000)

      • Status:

        Included

        Name:

        Absent pulmonary valve syndrome

        Code:

        (253596003)

        • Status:

          Excluded

          Name:

          Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type

          Code:

          (448475002)

      • Status:

        Excluded

        Name:

        Hypoplasia of pulmonary cusps of absent pulmonary valve type

        Code:

        (449354002)

      • Status:

        Excluded

        Name:

        Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome

        Code:

        (784353002)

      • Status:

        Excluded

        Name:

        Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

        Code:

        (766976003)

      • Status:

        Excluded

        Name:

        Tetralogy of Fallot with absent pulmonary valve

        Code:

        (399228007)

    • Status:

      Excluded

      Name:

      Congenital absence of tricuspid valve

      Code:

      (92976003)

      • Status:

        Excluded

        Name:

        Absent tricuspid leaflet

        Code:

        (253381001)

      • Status:

        Excluded

        Name:

        Absent tricuspid papillary muscle

        Code:

        (253392000)

      • Status:

        Excluded

        Name:

        Congenital absence of chordae tendineae of tricuspid valve

        Code:

        (876846006)

    • Status:

      Included

      Name:

      Cor triloculare biventriculare

      Code:

      (253276007)

      • Status:

        Included

        Name:

        Common atrioventricular canal

        Code:

        (360481003)

        • Status:

          Included

          Name:

          Atrioventricular septal defect - isolated atrial component

          Code:

          (253373002)

      • Status:

        Excluded

        Name:

        Common atrium with common atrioventricular junction

        Code:

        (871627006)

      • Status:

        Excluded

        Name:

        Common atrium with separate arterioventricular junctions

        Code:

        (871645006)

      • Status:

        Excluded

        Name:

        Cor biloculare

        Code:

        (81990004)

    • Status:

      Included

      Name:

      Left atrial appendage absent

      Code:

      (253356004)

    • Status:

      Excluded

      Name:

      Pseudoacardia

      Code:

      (472703008)

    • Status:

      Excluded

      Name:

      Right atrial appendage absent

      Code:

      (253345004)

    • Status:

      Excluded

      Name:

      Right ventricular outflow tract absent

      Code:

      (253534003)

    • Status:

      Excluded

      Name:

      Single inlet ventricle with absent atrioventricular connection

      Code:

      (448072007)

    • Status:

      Included

      Name:

      Totally absent pericardium

      Code:

      (253732001)

    • Status:

      Included

      Name:

      Uhl's disease

      Code:

      (2829000)

    • Status:

      Excluded

      Name:

      Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve

      Code:

      (448075009)

    • Status:

      Excluded

      Name:

      Ventricular septal defect with absent outlet septum and overriding truncal valve

      Code:

      (253562005)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum

        Code:

        (448780007)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim

        Code:

        (448827000)

  • Status:

    Excluded

    Name:

    Congenital anomaly of cardiac chamber

    Code:

    (15964981000119104)

    • Status:

      Excluded

      Name:

      Absent atrioventricular connection with straddling valve

      Code:

      (253279000)

      • Status:

        Excluded

        Name:

        Absent left sided atrioventricular connection with straddling valve

        Code:

        (726581000000107)

      • Status:

        Excluded

        Name:

        Absent right sided atrioventricular connection with straddling valve

        Code:

        (726571000000105)

      • Status:

        Excluded

        Name:

        Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve

        Code:

        (448624005)

      • Status:

        Excluded

        Name:

        Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve

        Code:

        (448075009)

    • Status:

      Excluded

      Name:

      Congenital abnormality of atrium

      Code:

      (788533006)

      • Status:

        Excluded

        Name:

        Abnormal atrial arrangement

        Code:

        (445898001)

      • Status:

        Excluded

        Name:

        Abnormal connection of hepatic vein to atrium

        Code:

        (253333008)

        • Status:

          Excluded

          Name:

          Hepatic vein to left atrium and right atrium

          Code:

          (449016005)

        • Status:

          Excluded

          Name:

          Hepatic vein to left sided atrium

          Code:

          (449014008)

        • Status:

          Excluded

          Name:

          Hepatic vein to right sided atrium

          Code:

          (449015009)

      • Status:

        Excluded

        Name:

        Atrial situs inversus

        Code:

        (871616009)

      • Status:

        Included

        Name:

        Atrioventricular septal defect and common atrioventricular junction

        Code:

        (253414002)

        • Status:

          Included

          Name:

          Atrioventricular septal defect - isolated ventricular component

          Code:

          (253415001)

        • Status:

          Included

          Name:

          Atrioventricular septal defect - ventricular component

          Code:

          (253417009)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect - ventricular component under inferior bridging leaflet

            Code:

            (253422009)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet

              Code:

              (448182006)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum

              Code:

              (449379004)

          • Status:

            Included

            Name:

            Atrioventricular septal defect - ventricular component under superior bridging leaflet

            Code:

            (253418004)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet

              Code:

              (448183001)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall

              Code:

              (253421002)

            • Status:

              Included

              Name:

              Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum

              Code:

              (253419007)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum

              Code:

              (253420001)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest

              Code:

              (448919005)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with restrictive ventricular component

            Code:

            (448331000)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices

            Code:

            (448184007)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

          Code:

          (448118003)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with balanced ventricles

          Code:

          (871643004)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with common atrioventricular orifice

          Code:

          (444961009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with separate atrioventricular orifices

          Code:

          (445002005)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle

          Code:

          (445264002)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle

          Code:

          (445299003)

        • Status:

          Included

          Name:

          Atrioventricular septal defect: atrial and ventricular components

          Code:

          (253416000)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle

            Code:

            (840497008)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle

            Code:

            (840517009)

        • Status:

          Excluded

          Name:

          Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

          Code:

          (871625003)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation

        Code:

        (448119006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure

          Code:

          (449459006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure

          Code:

          (449456004)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure

          Code:

          (449457008)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure

          Code:

          (449537006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure

          Code:

          (449538001)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure

          Code:

          (449539009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure

          Code:

          (449490008)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with ventricular imbalance

        Code:

        (871630004)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome

        Code:

        (763066009)

      • Status:

        Excluded

        Name:

        Bilateral isomeric atria

        Code:

        (263961009)

      • Status:

        Included

        Name:

        Common atrioventricular-type ventricular septal defect

        Code:

        (204330009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with additional muscular ventricular septal defect

          Code:

          (445334007)

      • Status:

        Excluded

        Name:

        Congenital abnormality of atrial septum

        Code:

        (447874007)

        • Status:

          Excluded

          Name:

          Congenital atrial septal defect

          Code:

          (405752007)

          • Status:

            Included

            Name:

            Atrial septal defect through coronary sinus orifice

            Code:

            (253371000)

          • Status:

            Excluded

            Name:

            Atrial septal defect with endocardial cushion defect, partial type

            Code:

            (60732002)

          • Status:

            Excluded

            Name:

            Atrial septal defect, atrioventricular conduction defect syndrome

            Code:

            (725145002)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly with atrial septal defect

            Code:

            (17394001)

          • Status:

            Included

            Name:

            Fallot's trilogy

            Code:

            (204351007)

          • Status:

            Excluded

            Name:

            Interatrial communication through coronary sinus orifice

            Code:

            (447665008)

          • Status:

            Included

            Name:

            Lutembacher's syndrome

            Code:

            (204319006)

          • Status:

            Excluded

            Name:

            Lymphedema, atrial septal defect, facial changes syndrome

            Code:

            (721978002)

          • Status:

            Excluded

            Name:

            Non-restrictive interatrial communication septal defect

            Code:

            (728481000000105)

          • Status:

            Included

            Name:

            Ostium primum defect

            Code:

            (17718000)

          • Status:

            Included

            Name:

            Pentalogy of Fallot

            Code:

            (204306007)

          • Status:

            Included

            Name:

            Persistent ostium secundum

            Code:

            (204318003)

          • Status:

            Excluded

            Name:

            Restrictive interatrial communication septal defect

            Code:

            (728491000000107)

          • Status:

            Included

            Name:

            Restrictive interatrial communication with obligatory shunt

            Code:

            (447780005)

        • Status:

          Included

          Name:

          Cor triloculare biventriculare

          Code:

          (253276007)

          • Status:

            Included

            Name:

            Common atrioventricular canal

            Code:

            (360481003)

            • Status:

              Included

              Name:

              Atrioventricular septal defect - isolated atrial component

              Code:

              (253373002)

          • Status:

            Excluded

            Name:

            Common atrium with common atrioventricular junction

            Code:

            (871627006)

          • Status:

            Excluded

            Name:

            Common atrium with separate arterioventricular junctions

            Code:

            (871645006)

          • Status:

            Excluded

            Name:

            Cor biloculare

            Code:

            (81990004)

        • Status:

          Included

          Name:

          Foramen ovale valvar aneurysm

          Code:

          (253364005)

        • Status:

          Excluded

          Name:

          Malaligned atrial septum

          Code:

          (253423004)

          • Status:

            Excluded

            Name:

            Double outlet left atrium

            Code:

            (253426007)

          • Status:

            Excluded

            Name:

            Double outlet right atrium

            Code:

            (253425006)

          • Status:

            Excluded

            Name:

            Malaligned atrial septum with flap valve to muscular rim of oval fossa

            Code:

            (727071000000103)

        • Status:

          Excluded

          Name:

          Malattachment of atrial septum

          Code:

          (449479003)

          • Status:

            Excluded

            Name:

            Malattachment of atrial septum with posterior aspect of septum primum to left

            Code:

            (449599006)

          • Status:

            Excluded

            Name:

            Malattachment of atrial septum with superior aspect of septum primum to left and posterior

            Code:

            (449600009)

        • Status:

          Included

          Name:

          Premature closure of foramen ovale

          Code:

          (19249002)

          • Status:

            Excluded

            Name:

            Premature restriction of foramen ovale

            Code:

            (446326008)

      • Status:

        Excluded

        Name:

        Congenital abnormality of left atrium

        Code:

        (447824005)

        • Status:

          Excluded

          Name:

          Congenital coronary artery fistula to left atrium

          Code:

          (128555001)

        • Status:

          Excluded

          Name:

          Congenital supravalvular mitral stenosis

          Code:

          (41514002)

        • Status:

          Excluded

          Name:

          Coronary sinus defect in left atrium

          Code:

          (253324006)

          • Status:

            Excluded

            Name:

            Completely unroofed coronary sinus defect in left atrium

            Code:

            (447913009)

        • Status:

          Included

          Name:

          Divided left atrium

          Code:

          (253353007)

          • Status:

            Excluded

            Name:

            Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium

            Code:

            (447666009)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication

              Code:

              (449428009)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication to right atrium

              Code:

              (449492000)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber extracardiac communication

              Code:

              (449587004)

          • Status:

            Excluded

            Name:

            Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium

            Code:

            (728371000000102)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium with pulmonary venous chamber communication

              Code:

              (728381000000100)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium with pulmonary venous chamber communication to right atrium

              Code:

              (728391000000103)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium with pulmonary venous chamber extracardiac communication

              Code:

              (728401000000100)

          • Status:

            Excluded

            Name:

            Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium

            Code:

            (447667000)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with extracardiac pulmonary venous chamber communication

              Code:

              (449440009)

            • Status:

              Excluded

              Name:

              Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with pulmonary venous chamber communication to right atrium

              Code:

              (449441008)

          • Status:

            Excluded

            Name:

            Divided left atrium with nonrestrictive outlet of proximal chamber to left atrium

            Code:

            (448066007)

          • Status:

            Excluded

            Name:

            Divided left atrium with restrictive outlet of proximal chamber to left atrium

            Code:

            (447962009)

          • Status:

            Excluded

            Name:

            Divided left atrium with some pulmonary veins to proximal chamber

            Code:

            (448320008)

            • Status:

              Excluded

              Name:

              Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium

              Code:

              (449436000)

              • Status:

                Excluded

                Name:

                Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting anomalously

                Code:

                (449594001)

              • Status:

                Excluded

                Name:

                Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting directly to left atrium

                Code:

                (449593007)

            • Status:

              Excluded

              Name:

              Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium

              Code:

              (449429001)

              • Status:

                Excluded

                Name:

                Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting anomalously

                Code:

                (449595000)

              • Status:

                Excluded

                Name:

                Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting directly to left atrium

                Code:

                (449596004)

        • Status:

          Excluded

          Name:

          Ectasia of left atrial appendage

          Code:

          (770432008)

        • Status:

          Excluded

          Name:

          Hepatic vein to left atrium and right atrium

          Code:

          (449016005)

        • Status:

          Included

          Name:

          Isomerism of left atrial appendage

          Code:

          (253337009)

        • Status:

          Excluded

          Name:

          Left atrial appendage - right - juxtaposition

          Code:

          (253357008)

        • Status:

          Included

          Name:

          Left atrial appendage absent

          Code:

          (253356004)

        • Status:

          Included

          Name:

          Left atrial endocardial fibroelastosis

          Code:

          (253359006)

        • Status:

          Included

          Name:

          Left atrial hypoplasia

          Code:

          (253360001)

        • Status:

          Included

          Name:

          Supramitral left atrial ring

          Code:

          (253354001)

          • Status:

            Excluded

            Name:

            Shone complex

            Code:

            (41371000119100)

      • Status:

        Excluded

        Name:

        Congenital abnormality of right atrium

        Code:

        (448064005)

        • Status:

          Excluded

          Name:

          Anomalous pulmonary venous drainage to right atrium

          Code:

          (37639005)

        • Status:

          Included

          Name:

          Anomalous valve of coronary sinus

          Code:

          (253343006)

        • Status:

          Excluded

          Name:

          Chiari's network

          Code:

          (2583009)

        • Status:

          Excluded

          Name:

          Congenital coronary artery fistula to right atrium

          Code:

          (128557009)

        • Status:

          Excluded

          Name:

          Coronary sinus orifice atresia

          Code:

          (253326008)

        • Status:

          Included

          Name:

          Divided right atrium

          Code:

          (274947007)

        • Status:

          Excluded

          Name:

          Ectasia of right atrial appendage

          Code:

          (770433003)

        • Status:

          Excluded

          Name:

          Familial idiopathic dilatation of right atrium

          Code:

          (716773002)

        • Status:

          Excluded

          Name:

          Hepatic vein to left atrium and right atrium

          Code:

          (449016005)

        • Status:

          Included

          Name:

          Isomerism of right atrial appendage

          Code:

          (253336000)

        • Status:

          Included

          Name:

          Left ventricular-right atrial communication

          Code:

          (41893002)

        • Status:

          Included

          Name:

          Obstructive Eustachian valve

          Code:

          (253341008)

        • Status:

          Excluded

          Name:

          Persistent Eustachian valve

          Code:

          (783011004)

        • Status:

          Included

          Name:

          Prolapse of Eustachian valve

          Code:

          (253342001)

          • Status:

            Excluded

            Name:

            Prolapse of Eustachian valve through atrial septum

            Code:

            (447689001)

          • Status:

            Excluded

            Name:

            Prolapse of Eustachian valve through tricuspid valve

            Code:

            (447690005)

        • Status:

          Excluded

          Name:

          Right atrial appendage - left - juxtaposition

          Code:

          (253346003)

        • Status:

          Excluded

          Name:

          Right atrial appendage absent

          Code:

          (253345004)

        • Status:

          Included

          Name:

          Right atrial endocardial fibroelastosis

          Code:

          (253348002)

        • Status:

          Included

          Name:

          Right atrial hypoplasia

          Code:

          (253349005)

      • Status:

        Excluded

        Name:

        Congenital dilatation of atrium

        Code:

        (93051009)

        • Status:

          Excluded

          Name:

          Ectasia of left atrial appendage

          Code:

          (770432008)

        • Status:

          Excluded

          Name:

          Ectasia of right atrial appendage

          Code:

          (770433003)

        • Status:

          Excluded

          Name:

          Familial idiopathic dilatation of right atrium

          Code:

          (716773002)

        • Status:

          Included

          Name:

          Foramen ovale valvar aneurysm

          Code:

          (253364005)

      • Status:

        Excluded

        Name:

        Congenital pulmonary venous atrium

        Code:

        (128567004)

      • Status:

        Excluded

        Name:

        Congenital systemic venous atrium

        Code:

        (128568009)

      • Status:

        Included

        Name:

        Cor triatriatum

        Code:

        (55510008)

      • Status:

        Excluded

        Name:

        Indeterminate atrial arrangement

        Code:

        (448681000)

      • Status:

        Included

        Name:

        Isomerism of atrial appendages

        Code:

        (253335001)

        • Status:

          Included

          Name:

          Isomerism of left atrial appendage

          Code:

          (253337009)

        • Status:

          Included

          Name:

          Isomerism of right atrial appendage

          Code:

          (253336000)

        • Status:

          Excluded

          Name:

          Mirror imaged atria

          Code:

          (253338004)

      • Status:

        Excluded

        Name:

        Juxtaposed atrial appendage

        Code:

        (128563000)

      • Status:

        Excluded

        Name:

        Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment

        Code:

        (871579003)

    • Status:

      Excluded

      Name:

      Congenital abnormality of cardiac ventricle

      Code:

      (773139006)

      • Status:

        Excluded

        Name:

        Abnormal relationship of right ventricle to left ventricle

        Code:

        (253268005)

        • Status:

          Excluded

          Name:

          Left hand pattern ventricular topology

          Code:

          (866118008)

        • Status:

          Excluded

          Name:

          Right hand pattern ventricular topology

          Code:

          (871613001)

        • Status:

          Excluded

          Name:

          Right ventricle inferior to left ventricle

          Code:

          (448103004)

        • Status:

          Excluded

          Name:

          Right ventricle posterior to left ventricle

          Code:

          (447845003)

        • Status:

          Excluded

          Name:

          Right ventricle to left of left ventricle

          Code:

          (447673004)

        • Status:

          Excluded

          Name:

          Superior to inferior ventricular relationship

          Code:

          (448477005)

      • Status:

        Excluded

        Name:

        Anterior deviation of infundibular septum of Fallot type

        Code:

        (448619007)

      • Status:

        Excluded

        Name:

        Aortic valve overriding ventricular septum

        Code:

        (448161000)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve

          Code:

          (447698003)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve

          Code:

          (447671002)

      • Status:

        Included

        Name:

        Atresia of pulmonary artery with septal defect

        Code:

        (204448004)

      • Status:

        Included

        Name:

        Atrioventricular septal defect - isolated atrial component

        Code:

        (253373002)

      • Status:

        Included

        Name:

        Atrioventricular septal defect and common atrioventricular junction

        Code:

        (253414002)

        • Status:

          Included

          Name:

          Atrioventricular septal defect - isolated ventricular component

          Code:

          (253415001)

        • Status:

          Included

          Name:

          Atrioventricular septal defect - ventricular component

          Code:

          (253417009)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect - ventricular component under inferior bridging leaflet

            Code:

            (253422009)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet

              Code:

              (448182006)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum

              Code:

              (449379004)

          • Status:

            Included

            Name:

            Atrioventricular septal defect - ventricular component under superior bridging leaflet

            Code:

            (253418004)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet

              Code:

              (448183001)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall

              Code:

              (253421002)

            • Status:

              Included

              Name:

              Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum

              Code:

              (253419007)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum

              Code:

              (253420001)

            • Status:

              Excluded

              Name:

              Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest

              Code:

              (448919005)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with restrictive ventricular component

            Code:

            (448331000)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices

            Code:

            (448184007)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

          Code:

          (448118003)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with balanced ventricles

          Code:

          (871643004)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with common atrioventricular orifice

          Code:

          (444961009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with separate atrioventricular orifices

          Code:

          (445002005)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle

          Code:

          (445264002)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle

          Code:

          (445299003)

        • Status:

          Included

          Name:

          Atrioventricular septal defect: atrial and ventricular components

          Code:

          (253416000)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle

            Code:

            (840497008)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle

            Code:

            (840517009)

        • Status:

          Excluded

          Name:

          Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

          Code:

          (871625003)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation

        Code:

        (448119006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure

          Code:

          (449459006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure

          Code:

          (449456004)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure

          Code:

          (449457008)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure

          Code:

          (449537006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure

          Code:

          (449538001)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure

          Code:

          (449539009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure

          Code:

          (449490008)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome

        Code:

        (763066009)

      • Status:

        Included

        Name:

        Common ventricle

        Code:

        (45503006)

        • Status:

          Excluded

          Name:

          Functional single ventricle

          Code:

          (443379009)

        • Status:

          Excluded

          Name:

          Single left ventricle

          Code:

          (109426009)

        • Status:

          Excluded

          Name:

          Single right ventricle

          Code:

          (109425008)

      • Status:

        Included

        Name:

        Congenital abnormality of ventricles and ventricular septum

        Code:

        (253511007)

        • Status:

          Excluded

          Name:

          Congenital dilatation of cardiac ventricle

          Code:

          (93053007)

        • Status:

          Excluded

          Name:

          Congenital hypoplasia of cardiac ventricle

          Code:

          (93247001)

        • Status:

          Included

          Name:

          Indeterminate ventricular outflow tract obstruction

          Code:

          (253548003)

        • Status:

          Included

          Name:

          Left ventricular outflow tract abnormality

          Code:

          (253545000)

        • Status:

          Included

          Name:

          Right ventricular outflow tract abnormality

          Code:

          (253529002)

          • Status:

            Included

            Name:

            Bilateral deficient infundibula

            Code:

            (253576006)

          • Status:

            Excluded

            Name:

            Bilateral muscular infundibula

            Code:

            (253575005)

          • Status:

            Excluded

            Name:

            Right ventricular outflow tract absent

            Code:

            (253534003)

          • Status:

            Included

            Name:

            Stenosis of infundibulum of right ventricle

            Code:

            (204370002)

            • Status:

              Excluded

              Name:

              Combined valvular-subvalvular pulmonic stenosis

              Code:

              (92830003)

            • Status:

              Included

              Name:

              Right ventricular muscular infundibular stenosis

              Code:

              (250942008)

              • Status:

                Included

                Name:

                Right ventricular fibromuscular infundibular stenosis

                Code:

                (250941001)

          • Status:

            Included

            Name:

            Subaortic infundibulum

            Code:

            (253574009)

          • Status:

            Excluded

            Name:

            Subpulmonary infundibulum

            Code:

            (253573003)

        • Status:

          Excluded

          Name:

          Solitary ventricle of indeterminate morphology

          Code:

          (447283008)

          • Status:

            Excluded

            Name:

            Double inlet to solitary ventricle of indeterminate morphology

            Code:

            (871659004)

        • Status:

          Included

          Name:

          Tetralogy of Fallot

          Code:

          (86299006)

          • Status:

            Included

            Name:

            Dextraposition of aorta in Fallot's tetralogy

            Code:

            (253514004)

          • Status:

            Excluded

            Name:

            Fallot complex with intellectual disability and growth delay syndrome

            Code:

            (723336008)

          • Status:

            Included

            Name:

            Pentalogy of Fallot

            Code:

            (204306007)

          • Status:

            Excluded

            Name:

            Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

            Code:

            (766976003)

          • Status:

            Excluded

            Name:

            Tetralogy of Fallot with absent pulmonary valve

            Code:

            (399228007)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary stenosis

            Code:

            (253512000)

          • Status:

            Included

            Name:

            Ventricular septal defect in Fallot's tetralogy

            Code:

            (253515003)

      • Status:

        Excluded

        Name:

        Congenital aneurysm of membranous portion of interventricular septum

        Code:

        (763747002)

      • Status:

        Excluded

        Name:

        Congenital anomaly of left ventricle

        Code:

        (871660009)

        • Status:

          Included

          Name:

          Abnormal left ventricular muscle band

          Code:

          (253542002)

        • Status:

          Excluded

          Name:

          Absent mitral papillary muscle

          Code:

          (253411005)

        • Status:

          Excluded

          Name:

          Anomalous muscle bands of left ventricle

          Code:

          (13453009)

          • Status:

            Excluded

            Name:

            Anomalous anterolateral muscle bands of left ventricle

            Code:

            (759731000000107)

          • Status:

            Excluded

            Name:

            Anomalous false tendon of muscle bands of left ventricle

            Code:

            (759741000000103)

          • Status:

            Excluded

            Name:

            Anomalous posteromedial muscle bands of left ventricle

            Code:

            (759751000000100)

        • Status:

          Included

          Name:

          Aortic left ventricular tunnel

          Code:

          (26201005)

          • Status:

            Excluded

            Name:

            Aortic left ventricular tunnel with right coronary artery from tunnel

            Code:

            (448095003)

          • Status:

            Excluded

            Name:

            Aortico-left ventricular tunnel of simple type

            Code:

            (448842002)

          • Status:

            Excluded

            Name:

            Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall

            Code:

            (448975006)

            • Status:

              Excluded

              Name:

              Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall

              Code:

              (448843007)

          • Status:

            Excluded

            Name:

            Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion

            Code:

            (449398002)

            • Status:

              Excluded

              Name:

              Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall

              Code:

              (448843007)

        • Status:

          Excluded

          Name:

          Congenital abnormality of mitral papillary muscle

          Code:

          (759521000000100)

        • Status:

          Excluded

          Name:

          Congenital abnormality of mitral subvalvular apparatus

          Code:

          (448920004)

          • Status:

            Excluded

            Name:

            Congenital left ventricular submitral valve aneurysm

            Code:

            (448028009)

        • Status:

          Excluded

          Name:

          Congenital coronary artery fistula to left ventricle

          Code:

          (128556000)

        • Status:

          Included

          Name:

          Congenital diverticulum of left ventricle

          Code:

          (75270000)

          • Status:

            Excluded

            Name:

            Congenital subaortic diverticulum

            Code:

            (698971006)

        • Status:

          Included

          Name:

          Congenital left ventricular aneurysm

          Code:

          (253544001)

          • Status:

            Excluded

            Name:

            Congenital aneurysm of subaortic left ventricle

            Code:

            (447876009)

          • Status:

            Excluded

            Name:

            Congenital left ventricular submitral valve aneurysm

            Code:

            (448028009)

        • Status:

          Excluded

          Name:

          Congenital subaortic stenosis

          Code:

          (73660006)

          • Status:

            Excluded

            Name:

            Congenital muscular subaortic stenosis

            Code:

            (360473004)

          • Status:

            Excluded

            Name:

            Congenital subaortic stenosis due to fibromuscular shelf

            Code:

            (8712002)

          • Status:

            Excluded

            Name:

            Congenital subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart

            Code:

            (472796007)

          • Status:

            Excluded

            Name:

            Congenital subaortic stenosis of tunnel type

            Code:

            (56309007)

          • Status:

            Excluded

            Name:

            Subaortic stenosis and short stature syndrome

            Code:

            (783096008)

          • Status:

            Excluded

            Name:

            Subaortic stenosis due to common atrioventricular valve

            Code:

            (448415009)

        • Status:

          Included

          Name:

          Double inlet left ventricle

          Code:

          (253283000)

        • Status:

          Included

          Name:

          Double outlet left ventricle

          Code:

          (7368005)

        • Status:

          Excluded

          Name:

          Fused mitral papillary muscles

          Code:

          (253412003)

        • Status:

          Included

          Name:

          Left ventricular hypoplasia

          Code:

          (253536001)

          • Status:

            Excluded

            Name:

            Diffuse hypoplasia of left ventricle

            Code:

            (253537005)

          • Status:

            Excluded

            Name:

            Hypoplasia of left heart without intrinsic valve stenosis and without atresia

            Code:

            (447669002)

          • Status:

            Excluded

            Name:

            Hypoplasia of left ventricular inflow tract

            Code:

            (253538000)

          • Status:

            Included

            Name:

            Hypoplasia of left ventricular outflow tract

            Code:

            (253539008)

            • Status:

              Included

              Name:

              Hypoplasia of left ventricular outflow tract and trabecular area

              Code:

              (253540005)

          • Status:

            Excluded

            Name:

            Hypoplasia of trabecular portion of left ventricle

            Code:

            (449353008)

            • Status:

              Excluded

              Name:

              Hypoplastic mitral papillary muscle

              Code:

              (253413008)

          • Status:

            Excluded

            Name:

            Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle

            Code:

            (447286000)

        • Status:

          Included

          Name:

          Left ventricular outflow tract abnormality

          Code:

          (253545000)

        • Status:

          Excluded

          Name:

          Left ventricular outflow tract atresia

          Code:

          (253547008)

        • Status:

          Excluded

          Name:

          Left ventricular outflow tract obstruction due to septal hypertrophy

          Code:

          (759761000000102)

        • Status:

          Included

          Name:

          Left ventricular-right atrial communication

          Code:

          (41893002)

        • Status:

          Included

          Name:

          Primary left ventricular endocardial fibroelastosis

          Code:

          (253543007)

        • Status:

          Excluded

          Name:

          Single left ventricle

          Code:

          (109426009)

        • Status:

          Excluded

          Name:

          Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction

          Code:

          (871605002)

      • Status:

        Excluded

        Name:

        Congenital cardiac diverticulum

        Code:

        (718181001)

      • Status:

        Excluded

        Name:

        Congenital hypertrophy of cardiac ventricle

        Code:

        (93078006)

        • Status:

          Included

          Name:

          Fallot's trilogy

          Code:

          (204351007)

        • Status:

          Included

          Name:

          Tetralogy of Fallot

          Code:

          (86299006)

          • Status:

            Included

            Name:

            Dextraposition of aorta in Fallot's tetralogy

            Code:

            (253514004)

          • Status:

            Excluded

            Name:

            Fallot complex with intellectual disability and growth delay syndrome

            Code:

            (723336008)

          • Status:

            Included

            Name:

            Pentalogy of Fallot

            Code:

            (204306007)

          • Status:

            Excluded

            Name:

            Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

            Code:

            (766976003)

          • Status:

            Excluded

            Name:

            Tetralogy of Fallot with absent pulmonary valve

            Code:

            (399228007)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary stenosis

            Code:

            (253512000)

          • Status:

            Included

            Name:

            Ventricular septal defect in Fallot's tetralogy

            Code:

            (253515003)

      • Status:

        Excluded

        Name:

        Congenital right ventricular anomaly

        Code:

        (871668002)

        • Status:

          Excluded

          Name:

          Anomalous muscle bands of right ventricle

          Code:

          (88445007)

        • Status:

          Excluded

          Name:

          Aorta to right ventricle tunnel

          Code:

          (253650001)

        • Status:

          Excluded

          Name:

          Bipartite right ventricle

          Code:

          (448162007)

        • Status:

          Excluded

          Name:

          Congenital abnormality of tricuspid papillary muscle

          Code:

          (448073002)

          • Status:

            Excluded

            Name:

            Absent tricuspid papillary muscle

            Code:

            (253392000)

          • Status:

            Excluded

            Name:

            Fused tricuspid papillary muscle

            Code:

            (253393005)

          • Status:

            Excluded

            Name:

            Hypoplastic tricuspid papillary muscle

            Code:

            (253394004)

          • Status:

            Excluded

            Name:

            Parachute malformation of tricuspid valve

            Code:

            (253391007)

        • Status:

          Excluded

          Name:

          Congenital coronary artery fistula to right ventricle

          Code:

          (128558004)

        • Status:

          Included

          Name:

          Congenital right ventricular aneurysm

          Code:

          (253527000)

        • Status:

          Included

          Name:

          Congenital right ventricular diverticulum

          Code:

          (253525008)

        • Status:

          Excluded

          Name:

          Congenital subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart

          Code:

          (472801002)

        • Status:

          Excluded

          Name:

          Diffuse hypoplasia of right ventricle

          Code:

          (253518001)

        • Status:

          Included

          Name:

          Double inlet right ventricle

          Code:

          (253282005)

          • Status:

            Excluded

            Name:

            Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle

            Code:

            (871585005)

        • Status:

          Included

          Name:

          Double outlet right ventricle

          Code:

          (7484005)

          • Status:

            Included

            Name:

            Double outlet right ventricle with doubly committed ventricular septal defect

            Code:

            (253300003)

            • Status:

              Excluded

              Name:

              Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

              Code:

              (448516008)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with intact ventricular septum

            Code:

            (447284002)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with noncommitted ventricular septal defect

            Code:

            (253299006)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type

            Code:

            (762251008)

          • Status:

            Included

            Name:

            Double outlet right ventricle with subaortic ventricular septal defect

            Code:

            (253298003)

            • Status:

              Excluded

              Name:

              Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type

              Code:

              (871599009)

            • Status:

              Excluded

              Name:

              Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type

              Code:

              (871601006)

            • Status:

              Excluded

              Name:

              Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

              Code:

              (840507004)

          • Status:

            Included

            Name:

            Double outlet right ventricle with subpulmonary ventricular septal defect

            Code:

            (448794008)

        • Status:

          Included

          Name:

          Fallot's trilogy

          Code:

          (204351007)

        • Status:

          Included

          Name:

          Hypoplasia of right ventricular inflow tract

          Code:

          (253519009)

        • Status:

          Excluded

          Name:

          Hypoplasia of right ventricular outflow tract

          Code:

          (253520003)

          • Status:

            Excluded

            Name:

            Hypoplasia of right ventricular outflow tract and trabecular area

            Code:

            (253521004)

        • Status:

          Excluded

          Name:

          Hypoplasia of trabecular portion of right ventricle

          Code:

          (448966009)

          • Status:

            Excluded

            Name:

            Hypoplastic tricuspid papillary muscle

            Code:

            (253394004)

        • Status:

          Excluded

          Name:

          Isolated right ventricular hypoplasia

          Code:

          (718135001)

        • Status:

          Excluded

          Name:

          Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome

          Code:

          (715535009)

        • Status:

          Included

          Name:

          Primary right ventricular endocardial fibroelastosis

          Code:

          (253523001)

        • Status:

          Included

          Name:

          Right ventricular outflow tract abnormality

          Code:

          (253529002)

          • Status:

            Included

            Name:

            Bilateral deficient infundibula

            Code:

            (253576006)

          • Status:

            Excluded

            Name:

            Bilateral muscular infundibula

            Code:

            (253575005)

          • Status:

            Excluded

            Name:

            Right ventricular outflow tract absent

            Code:

            (253534003)

          • Status:

            Included

            Name:

            Stenosis of infundibulum of right ventricle

            Code:

            (204370002)

            • Status:

              Excluded

              Name:

              Combined valvular-subvalvular pulmonic stenosis

              Code:

              (92830003)

            • Status:

              Included

              Name:

              Right ventricular muscular infundibular stenosis

              Code:

              (250942008)

              • Status:

                Included

                Name:

                Right ventricular fibromuscular infundibular stenosis

                Code:

                (250941001)

          • Status:

            Included

            Name:

            Subaortic infundibulum

            Code:

            (253574009)

          • Status:

            Excluded

            Name:

            Subpulmonary infundibulum

            Code:

            (253573003)

        • Status:

          Excluded

          Name:

          Right ventricular outflow tract atresia

          Code:

          (253533009)

        • Status:

          Excluded

          Name:

          Single right ventricle

          Code:

          (109425008)

        • Status:

          Included

          Name:

          Tetralogy of Fallot

          Code:

          (86299006)

          • Status:

            Included

            Name:

            Dextraposition of aorta in Fallot's tetralogy

            Code:

            (253514004)

          • Status:

            Excluded

            Name:

            Fallot complex with intellectual disability and growth delay syndrome

            Code:

            (723336008)

          • Status:

            Included

            Name:

            Pentalogy of Fallot

            Code:

            (204306007)

          • Status:

            Excluded

            Name:

            Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

            Code:

            (766976003)

          • Status:

            Excluded

            Name:

            Tetralogy of Fallot with absent pulmonary valve

            Code:

            (399228007)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary stenosis

            Code:

            (253512000)

          • Status:

            Included

            Name:

            Ventricular septal defect in Fallot's tetralogy

            Code:

            (253515003)

        • Status:

          Included

          Name:

          Two chambered right ventricle

          Code:

          (253524007)

          • Status:

            Excluded

            Name:

            Two chambered right ventricle with ventricular septal defect above and below obstruction

            Code:

            (759891000000100)

          • Status:

            Excluded

            Name:

            Two chambered right ventricle with ventricular septal defect above obstruction

            Code:

            (759871000000104)

          • Status:

            Excluded

            Name:

            Two chambered right ventricle with ventricular septal defect below obstruction

            Code:

            (759881000000102)

        • Status:

          Included

          Name:

          Uhl's disease

          Code:

          (2829000)

        • Status:

          Excluded

          Name:

          Unipartite right ventricle

          Code:

          (448574001)

        • Status:

          Excluded

          Name:

          Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle

          Code:

          (446659000)

      • Status:

        Excluded

        Name:

        Congenital ventricular septal defect

        Code:

        (768552007)

        • Status:

          Excluded

          Name:

          Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type

          Code:

          (448475002)

        • Status:

          Excluded

          Name:

          Aural atresia with multiple congenital anomalies and intellectual disability syndrome

          Code:

          (720748007)

        • Status:

          Included

          Name:

          Common atrioventricular-type ventricular septal defect

          Code:

          (204330009)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with additional muscular ventricular septal defect

            Code:

            (445334007)

        • Status:

          Included

          Name:

          Double inlet ventricle

          Code:

          (253281003)

          • Status:

            Excluded

            Name:

            Abnormality of left atrioventricular valve in double inlet ventricle

            Code:

            (253483002)

            • Status:

              Excluded

              Name:

              Abnormality of left atrioventricular valve chordae tendinae

              Code:

              (253501000)

              • Status:

                Excluded

                Name:

                Arcade abnormality of left atrioventricular valve chordae

                Code:

                (253505009)

              • Status:

                Excluded

                Name:

                Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle

                Code:

                (449098005)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve chordae to outlet septum

                Code:

                (253504008)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve chordae too long

                Code:

                (253503002)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve chordae too short

                Code:

                (253502007)

            • Status:

              Excluded

              Name:

              Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle

              Code:

              (460614005)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve atresia

              Code:

              (253484008)

              • Status:

                Excluded

                Name:

                Imperforate left atrioventricular valve

                Code:

                (253485009)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve dysplasia

              Code:

              (253486005)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve leaflet dysplasia

                Code:

                (253500004)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve hypoplasia

              Code:

              (253487001)

              • Status:

                Excluded

                Name:

                Hypoplasia of left atrioventricular valve annulus in double inlet ventricle

                Code:

                (449228007)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve leaflet abnormality

              Code:

              (253493009)

              • Status:

                Excluded

                Name:

                Absent left atrioventricular valve leaflets

                Code:

                (253494003)

              • Status:

                Excluded

                Name:

                Accessory tissue on left atrioventricular valve leaflet

                Code:

                (253499008)

              • Status:

                Excluded

                Name:

                Associated mass of left atrioventricular valve leaflet

                Code:

                (759611000000105)

              • Status:

                Excluded

                Name:

                Double orifice of left atrioventricular valve

                Code:

                (253495002)

              • Status:

                Excluded

                Name:

                Flail of left atrioventricular valve leaflet

                Code:

                (759641000000106)

              • Status:

                Excluded

                Name:

                Gelatinous left atrioventricular valve leaflet

                Code:

                (759621000000104)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve leaflet dysplasia

                Code:

                (253500004)

              • Status:

                Excluded

                Name:

                Left atrioventricular valve prolapse

                Code:

                (253497005)

              • Status:

                Excluded

                Name:

                Noncoapting left atrioventricular valve leaflet

                Code:

                (759631000000102)

              • Status:

                Excluded

                Name:

                True cleft of left atrioventricular valve leaflet

                Code:

                (253498000)

            • Status:

              Excluded

              Name:

              Left atrioventricular valve stenosis in double inlet ventricle

              Code:

              (449099002)

            • Status:

              Excluded

              Name:

              Overriding left atrioventricular valve

              Code:

              (253489003)

            • Status:

              Excluded

              Name:

              Straddling left atrioventricular valve

              Code:

              (253492004)

          • Status:

            Excluded

            Name:

            Congenital anomaly of left-sided atrioventricular valve in double inlet ventricle

            Code:

            (871583003)

          • Status:

            Included

            Name:

            Double inlet left ventricle

            Code:

            (253283000)

          • Status:

            Included

            Name:

            Double inlet right ventricle

            Code:

            (253282005)

            • Status:

              Excluded

              Name:

              Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle

              Code:

              (871585005)

          • Status:

            Excluded

            Name:

            Double inlet to solitary ventricle of indeterminate morphology

            Code:

            (871659004)

          • Status:

            Excluded

            Name:

            Double inlet to ventricle of indeterminate morphology

            Code:

            (253284006)

          • Status:

            Excluded

            Name:

            Hypoplasia of right atrioventricular valve annulus in double inlet ventricle

            Code:

            (449040002)

        • Status:

          Included

          Name:

          Double outlet right ventricle with doubly committed ventricular septal defect

          Code:

          (253300003)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

            Code:

            (448516008)

        • Status:

          Excluded

          Name:

          Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type

          Code:

          (762251008)

        • Status:

          Included

          Name:

          Double outlet right ventricle with subpulmonary ventricular septal defect

          Code:

          (448794008)

        • Status:

          Included

          Name:

          Doubly committed subarterial ventricular septal defect

          Code:

          (253568009)

          • Status:

            Excluded

            Name:

            Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type

            Code:

            (871599009)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum

            Code:

            (871609008)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension

            Code:

            (871610003)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum

            Code:

            (871604003)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum

            Code:

            (871611004)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim

            Code:

            (871636005)

          • Status:

            Included

            Name:

            Doubly committed subarterial ventricular septal defect with membranous septum extension

            Code:

            (253569001)

          • Status:

            Included

            Name:

            Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim

            Code:

            (253570000)

        • Status:

          Excluded

          Name:

          Doubly committed ventricular septal defect in double outlet ventriculoarterial connection

          Code:

          (449178002)

        • Status:

          Excluded

          Name:

          Eisenmenger ventricular septal defect

          Code:

          (827078006)

        • Status:

          Included

          Name:

          Giant ventricular septal defect

          Code:

          (253571001)

        • Status:

          Excluded

          Name:

          Hemodynamically insignificant ventricular septal defect

          Code:

          (762460002)

        • Status:

          Excluded

          Name:

          Laubry Pezzi syndrome

          Code:

          (764955006)

        • Status:

          Included

          Name:

          Multiple ventricular septal defects

          Code:

          (253550006)

        • Status:

          Included

          Name:

          Muscular ventricular septum defect

          Code:

          (94706008)

          • Status:

            Excluded

            Name:

            Confluent muscular ventricular septal defect

            Code:

            (449385006)

          • Status:

            Excluded

            Name:

            Multiple muscular ventricular septum defect

            Code:

            (109430007)

          • Status:

            Included

            Name:

            Muscular ventricular septal defect in apical trabecular septum

            Code:

            (253565007)

          • Status:

            Included

            Name:

            Muscular ventricular septal defect in central trabecular septum

            Code:

            (253564006)

          • Status:

            Included

            Name:

            Muscular ventricular septal defect in inlet septum

            Code:

            (253563000)

          • Status:

            Included

            Name:

            Muscular ventricular septal defect in marginal septum

            Code:

            (253566008)

          • Status:

            Included

            Name:

            Muscular ventricular septal defect in outlet septum

            Code:

            (253567004)

          • Status:

            Excluded

            Name:

            Muscular ventricular septal defect in trabecular septum

            Code:

            (449190000)

            • Status:

              Excluded

              Name:

              Anterior muscular trabecular ventricular septal defect

              Code:

              (871612006)

            • Status:

              Excluded

              Name:

              Inferior muscular trabecular ventricular septal defect

              Code:

              (871581001)

          • Status:

            Excluded

            Name:

            Muscular ventricular septal defect opening to right ventricular inlet

            Code:

            (871658007)

          • Status:

            Excluded

            Name:

            Single muscular ventricular septum defect

            Code:

            (109429002)

        • Status:

          Excluded

          Name:

          Non-restrictive ventricular septal defect

          Code:

          (373131000)

        • Status:

          Included

          Name:

          Perimembranous ventricular septal defect

          Code:

          (109428005)

          • Status:

            Excluded

            Name:

            Perimembranous inlet ventricular septal defect

            Code:

            (871620008)

          • Status:

            Excluded

            Name:

            Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment

            Code:

            (871579003)

          • Status:

            Excluded

            Name:

            Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum

            Code:

            (871602004)

          • Status:

            Excluded

            Name:

            Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum

            Code:

            (871648008)

          • Status:

            Excluded

            Name:

            Perimembranous ventricular septal defect with extension to all right ventricular components

            Code:

            (253555001)

          • Status:

            Included

            Name:

            Perimembranous ventricular septal defect with extension to right ventricular inlet

            Code:

            (253552003)

          • Status:

            Included

            Name:

            Perimembranous ventricular septal defect with extension to right ventricular outlet

            Code:

            (253554002)

          • Status:

            Included

            Name:

            Perimembranous ventricular septal defect with extension to right ventricular trabecular component

            Code:

            (253553008)

        • Status:

          Included

          Name:

          Pulmonary atresia with ventricular septal defect

          Code:

          (253591008)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from left ventricle

            Code:

            (447838003)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from right ventricle

            Code:

            (447839006)

          • Status:

            Excluded

            Name:

            Pulmonary atresia with ventricular septal defect of Fallot type

            Code:

            (448155003)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

        • Status:

          Excluded

          Name:

          Residual ventricular septal defect

          Code:

          (447941008)

        • Status:

          Included

          Name:

          Restrictive ventricular septal defect

          Code:

          (253551005)

        • Status:

          Included

          Name:

          Roger's disease

          Code:

          (80387009)

        • Status:

          Excluded

          Name:

          Subarterial ventricular septal defect

          Code:

          (448876006)

        • Status:

          Excluded

          Name:

          Supracristal ventricular septal defect

          Code:

          (109427000)

        • Status:

          Included

          Name:

          Tetralogy of Fallot

          Code:

          (86299006)

          • Status:

            Included

            Name:

            Dextraposition of aorta in Fallot's tetralogy

            Code:

            (253514004)

          • Status:

            Excluded

            Name:

            Fallot complex with intellectual disability and growth delay syndrome

            Code:

            (723336008)

          • Status:

            Included

            Name:

            Pentalogy of Fallot

            Code:

            (204306007)

          • Status:

            Excluded

            Name:

            Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

            Code:

            (766976003)

          • Status:

            Excluded

            Name:

            Tetralogy of Fallot with absent pulmonary valve

            Code:

            (399228007)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary stenosis

            Code:

            (253512000)

          • Status:

            Included

            Name:

            Ventricular septal defect in Fallot's tetralogy

            Code:

            (253515003)

        • Status:

          Included

          Name:

          Ventricular septal defect between left ventricle and right atrium

          Code:

          (204312002)

        • Status:

          Excluded

          Name:

          Ventricular septal defect of inlet of right aspect of ventricular septum

          Code:

          (447852001)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with absent outlet septum and overriding truncal valve

          Code:

          (253562005)

          • Status:

            Excluded

            Name:

            Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum

            Code:

            (448780007)

          • Status:

            Excluded

            Name:

            Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim

            Code:

            (448827000)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with malaligned outlet septum

          Code:

          (448062009)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum

            Code:

            (871609008)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and anteriorly malaligned outlet septum

            Code:

            (871607005)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum

            Code:

            (871604003)

          • Status:

            Excluded

            Name:

            Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum

            Code:

            (871611004)

          • Status:

            Excluded

            Name:

            Outlet ventricular septal defect with anteriorly malaligned outlet septum

            Code:

            (871606001)

          • Status:

            Excluded

            Name:

            Outlet ventricular septal defect with posteriorly malaligned outlet septum

            Code:

            (871600007)

          • Status:

            Excluded

            Name:

            Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum

            Code:

            (871602004)

          • Status:

            Excluded

            Name:

            Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve

            Code:

            (447698003)

          • Status:

            Excluded

            Name:

            Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve

            Code:

            (447670001)

          • Status:

            Included

            Name:

            Ventricular septal defect with malaligned outlet septum to left

            Code:

            (253559007)

          • Status:

            Excluded

            Name:

            Ventricular septal defect with malaligned outlet septum to right

            Code:

            (253556000)

          • Status:

            Excluded

            Name:

            Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve

            Code:

            (447672009)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve

          Code:

          (447671002)

      • Status:

        Excluded

        Name:

        Cor biloculare

        Code:

        (81990004)

      • Status:

        Excluded

        Name:

        Double outlet from ventricle of indeterminate morphology

        Code:

        (253301004)

      • Status:

        Excluded

        Name:

        Hypoplasia of infundibular septum

        Code:

        (448923002)

      • Status:

        Excluded

        Name:

        Membranous ventricular septum defect

        Code:

        (94150003)

      • Status:

        Excluded

        Name:

        Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect

        Code:

        (871603009)

      • Status:

        Excluded

        Name:

        Ventricular imbalance

        Code:

        (447285001)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with ventricular imbalance

          Code:

          (871630004)

        • Status:

          Excluded

          Name:

          Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle

          Code:

          (446659000)

        • Status:

          Excluded

          Name:

          Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle

          Code:

          (447286000)

    • Status:

      Included

      Name:

      Congenital aneurysm of heart

      Code:

      (204395001)

      • Status:

        Excluded

        Name:

        Congenital aneurysm of membranous portion of interventricular septum

        Code:

        (763747002)

      • Status:

        Included

        Name:

        Congenital left ventricular aneurysm

        Code:

        (253544001)

        • Status:

          Excluded

          Name:

          Congenital aneurysm of subaortic left ventricle

          Code:

          (447876009)

        • Status:

          Excluded

          Name:

          Congenital left ventricular submitral valve aneurysm

          Code:

          (448028009)

      • Status:

        Included

        Name:

        Congenital right ventricular aneurysm

        Code:

        (253527000)

      • Status:

        Included

        Name:

        Foramen ovale valvar aneurysm

        Code:

        (253364005)

    • Status:

      Included

      Name:

      Congenital anomaly of tricuspid valve

      Code:

      (4374004)

      • Status:

        Excluded

        Name:

        Accessory tissue on tricuspid leaflet

        Code:

        (253384009)

      • Status:

        Excluded

        Name:

        Congenital abnormal shape of tricuspid valve

        Code:

        (92944008)

        • Status:

          Excluded

          Name:

          Parachute malformation of tricuspid valve

          Code:

          (253391007)

      • Status:

        Excluded

        Name:

        Congenital abnormality of tricuspid chordae tendinae

        Code:

        (447829000)

        • Status:

          Excluded

          Name:

          Abnormal attachment of tricuspid chordae tendinae

          Code:

          (449455000)

        • Status:

          Excluded

          Name:

          Congenital absence of chordae tendineae of tricuspid valve

          Code:

          (876846006)

        • Status:

          Excluded

          Name:

          Obstructed interchordal space of tricuspid chordae tendinae

          Code:

          (449534004)

      • Status:

        Excluded

        Name:

        Congenital abnormality of tricuspid leaflet

        Code:

        (447830005)

        • Status:

          Excluded

          Name:

          Absent tricuspid leaflet

          Code:

          (253381001)

        • Status:

          Excluded

          Name:

          Cleft leaflet of tricuspid valve

          Code:

          (60232001)

        • Status:

          Included

          Name:

          Ebstein's anomaly of tricuspid valve

          Code:

          (204357006)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections

            Code:

            (447915002)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber

            Code:

            (449158005)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly with atrial septal defect

            Code:

            (17394001)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly with functional tricuspid stenosis

            Code:

            (448074008)

      • Status:

        Excluded

        Name:

        Congenital abnormality of tricuspid papillary muscle

        Code:

        (448073002)

        • Status:

          Excluded

          Name:

          Absent tricuspid papillary muscle

          Code:

          (253392000)

        • Status:

          Excluded

          Name:

          Fused tricuspid papillary muscle

          Code:

          (253393005)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

        • Status:

          Excluded

          Name:

          Parachute malformation of tricuspid valve

          Code:

          (253391007)

      • Status:

        Excluded

        Name:

        Congenital absence of tricuspid valve

        Code:

        (92976003)

        • Status:

          Excluded

          Name:

          Absent tricuspid leaflet

          Code:

          (253381001)

        • Status:

          Excluded

          Name:

          Absent tricuspid papillary muscle

          Code:

          (253392000)

        • Status:

          Excluded

          Name:

          Congenital absence of chordae tendineae of tricuspid valve

          Code:

          (876846006)

      • Status:

        Included

        Name:

        Congenital atresia of tricuspid valve

        Code:

        (63042009)

        • Status:

          Included

          Name:

          Congenital tricuspid atresia and stenosis

          Code:

          (204354004)

        • Status:

          Excluded

          Name:

          Tricuspid atresia with absent right atrioventricular connection

          Code:

          (871655005)

      • Status:

        Excluded

        Name:

        Congenital hypertrophy of tricuspid valve

        Code:

        (93076005)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of tricuspid valve

        Code:

        (43176009)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

        • Status:

          Included

          Name:

          Tricuspid annulus hypoplasia

          Code:

          (253376005)

      • Status:

        Included

        Name:

        Congenital insufficiency of tricuspid valve

        Code:

        (83119008)

      • Status:

        Included

        Name:

        Congenital stenosis of tricuspid valve

        Code:

        (36233006)

        • Status:

          Included

          Name:

          Congenital tricuspid atresia and stenosis

          Code:

          (204354004)

      • Status:

        Included

        Name:

        Dilatation of tricuspid annulus

        Code:

        (253377001)

      • Status:

        Included

        Name:

        Double orifice of tricuspid valve

        Code:

        (253382008)

      • Status:

        Excluded

        Name:

        Overriding tricuspid valve

        Code:

        (253378006)

      • Status:

        Included

        Name:

        Straddling tricuspid valve

        Code:

        (253379003)

      • Status:

        Included

        Name:

        Ventricular septal defect between left ventricle and right atrium

        Code:

        (204312002)

    • Status:

      Included

      Name:

      Congenital pulmonary valve abnormality

      Code:

      (204339005)

      • Status:

        Excluded

        Name:

        Combined valvular-subvalvular pulmonic stenosis

        Code:

        (92830003)

      • Status:

        Included

        Name:

        Commissural fusion of pulmonary valve

        Code:

        (253587003)

      • Status:

        Excluded

        Name:

        Congenital abnormal shape of pulmonary valve

        Code:

        (92941000)

      • Status:

        Included

        Name:

        Congenital abnormality of arterial valves

        Code:

        (253578007)

        • Status:

          Included

          Name:

          Accessory tissue on pulmonary valve cusp

          Code:

          (253597007)

        • Status:

          Included

          Name:

          Bicuspid pulmonary valve

          Code:

          (253599005)

          • Status:

            Excluded

            Name:

            Anterior-posterior orientation of bicuspid pulmonary valve

            Code:

            (448946000)

          • Status:

            Excluded

            Name:

            Right-left orientation of bicuspid pulmonary valve

            Code:

            (449140004)

        • Status:

          Excluded

          Name:

          Discontinuity between mitral valve and pulmonary valve

          Code:

          (447683000)

        • Status:

          Included

          Name:

          Quadricuspid aortic valve

          Code:

          (253611000)

        • Status:

          Excluded

          Name:

          Quadricuspid pulmonary valve

          Code:

          (253600008)

        • Status:

          Included

          Name:

          Unicuspid aortic valve

          Code:

          (253610004)

          • Status:

            Excluded

            Name:

            Acommissural unicuspid aortic valve

            Code:

            (448085005)

          • Status:

            Excluded

            Name:

            Unicommissural unicuspid aortic valve

            Code:

            (447696004)

      • Status:

        Excluded

        Name:

        Congenital abnormality of pulmonary valve cusp

        Code:

        (448604006)

        • Status:

          Excluded

          Name:

          Abnormal number of pulmonary valve cusps

          Code:

          (302943003)

          • Status:

            Included

            Name:

            Bicuspid pulmonary valve

            Code:

            (253599005)

            • Status:

              Excluded

              Name:

              Anterior-posterior orientation of bicuspid pulmonary valve

              Code:

              (448946000)

            • Status:

              Excluded

              Name:

              Right-left orientation of bicuspid pulmonary valve

              Code:

              (449140004)

          • Status:

            Excluded

            Name:

            Quadricuspid pulmonary valve

            Code:

            (253600008)

          • Status:

            Excluded

            Name:

            Unicuspid pulmonary valve

            Code:

            (253598002)

            • Status:

              Excluded

              Name:

              Acommissural unicuspid pulmonary valve

              Code:

              (448004007)

            • Status:

              Excluded

              Name:

              Unicommissural unicuspid pulmonary valve

              Code:

              (447697008)

        • Status:

          Excluded

          Name:

          Absence of pulmonary valve cusp

          Code:

          (449133000)

        • Status:

          Included

          Name:

          Congenital fusion of pulmonic cusps

          Code:

          (204345002)

        • Status:

          Included

          Name:

          Pulmonary valve cusp hypoplasia

          Code:

          (253585006)

          • Status:

            Excluded

            Name:

            Hypoplasia of pulmonary cusps of absent pulmonary valve type

            Code:

            (449354002)

        • Status:

          Excluded

          Name:

          Supernumerary pulmonary valve cusps

          Code:

          (204352000)

      • Status:

        Included

        Name:

        Congenital absence of pulmonary valve

        Code:

        (6996004)

        • Status:

          Excluded

          Name:

          Absence of pulmonary valve cusp

          Code:

          (449133000)

        • Status:

          Included

          Name:

          Absent pulmonary valve syndrome

          Code:

          (253596003)

          • Status:

            Excluded

            Name:

            Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type

            Code:

            (448475002)

        • Status:

          Excluded

          Name:

          Hypoplasia of pulmonary cusps of absent pulmonary valve type

          Code:

          (449354002)

        • Status:

          Excluded

          Name:

          Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome

          Code:

          (784353002)

        • Status:

          Excluded

          Name:

          Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

          Code:

          (766976003)

        • Status:

          Excluded

          Name:

          Tetralogy of Fallot with absent pulmonary valve

          Code:

          (399228007)

      • Status:

        Included

        Name:

        Congenital atresia of the pulmonary valve

        Code:

        (204342004)

        • Status:

          Included

          Name:

          Imperforate pulmonary valve

          Code:

          (253593006)

        • Status:

          Excluded

          Name:

          Pulmonary atresia with absent pulmonary artery

          Code:

          (253625004)

        • Status:

          Excluded

          Name:

          Pulmonary atresia with confluent pulmonary arteries

          Code:

          (253624000)

        • Status:

          Included

          Name:

          Pulmonary atresia with ventricular septal defect

          Code:

          (253591008)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from left ventricle

            Code:

            (447838003)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from right ventricle

            Code:

            (447839006)

          • Status:

            Excluded

            Name:

            Pulmonary atresia with ventricular septal defect of Fallot type

            Code:

            (448155003)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

        • Status:

          Excluded

          Name:

          Solitary aortic trunk with pulmonary atresia

          Code:

          (253303001)

      • Status:

        Included

        Name:

        Congenital fusion of pulmonary valve segment

        Code:

        (204346001)

      • Status:

        Excluded

        Name:

        Congenital hypertrophy of pulmonary valve

        Code:

        (93075009)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of pulmonary valve

        Code:

        (93287006)

        • Status:

          Included

          Name:

          Pulmonary valve cusp hypoplasia

          Code:

          (253585006)

          • Status:

            Excluded

            Name:

            Hypoplasia of pulmonary cusps of absent pulmonary valve type

            Code:

            (449354002)

        • Status:

          Excluded

          Name:

          Pulmonary valve ring hypoplasia

          Code:

          (253586007)

      • Status:

        Included

        Name:

        Congenital insufficiency of pulmonary valve

        Code:

        (15096009)

      • Status:

        Excluded

        Name:

        Continuity between mitral valve and pulmonary valve

        Code:

        (447681003)

      • Status:

        Excluded

        Name:

        Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type

        Code:

        (871599009)

      • Status:

        Excluded

        Name:

        Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type

        Code:

        (871601006)

      • Status:

        Excluded

        Name:

        Eccentric opening of tricuspid pulmonary valve

        Code:

        (449124002)

      • Status:

        Included

        Name:

        Fallot's trilogy

        Code:

        (204351007)

      • Status:

        Included

        Name:

        Prune belly syndrome with pulmonic stenosis, mental retardation and deafness

        Code:

        (236529001)

      • Status:

        Included

        Name:

        Pulmonary valve dysplasia

        Code:

        (253588008)

      • Status:

        Excluded

        Name:

        Pulmonic stenosis and congenital nephrosis

        Code:

        (236530006)

      • Status:

        Included

        Name:

        Tetralogy of Fallot

        Code:

        (86299006)

        • Status:

          Included

          Name:

          Dextraposition of aorta in Fallot's tetralogy

          Code:

          (253514004)

        • Status:

          Excluded

          Name:

          Fallot complex with intellectual disability and growth delay syndrome

          Code:

          (723336008)

        • Status:

          Included

          Name:

          Pentalogy of Fallot

          Code:

          (204306007)

        • Status:

          Excluded

          Name:

          Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

          Code:

          (766976003)

        • Status:

          Excluded

          Name:

          Tetralogy of Fallot with absent pulmonary valve

          Code:

          (399228007)

        • Status:

          Included

          Name:

          Tetralogy of Fallot with pulmonary atresia

          Code:

          (253513005)

          • Status:

            Excluded

            Name:

            Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

            Code:

            (762433009)

        • Status:

          Included

          Name:

          Tetralogy of Fallot with pulmonary stenosis

          Code:

          (253512000)

        • Status:

          Included

          Name:

          Ventricular septal defect in Fallot's tetralogy

          Code:

          (253515003)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447670001)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447672009)

    • Status:

      Excluded

      Name:

      Functionally univentricular heart

      Code:

      (446916007)

      • Status:

        Excluded

        Name:

        Common atrioventricular valve in functionally univentricular heart

        Code:

        (448729006)

      • Status:

        Excluded

        Name:

        Congenital subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart

        Code:

        (472796007)

      • Status:

        Excluded

        Name:

        Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart

        Code:

        (449086000)

      • Status:

        Excluded

        Name:

        Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart

        Code:

        (449087009)

    • Status:

      Excluded

      Name:

      Hypoplasia of right heart

      Code:

      (39589002)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of pulmonary valve

        Code:

        (93287006)

        • Status:

          Included

          Name:

          Pulmonary valve cusp hypoplasia

          Code:

          (253585006)

          • Status:

            Excluded

            Name:

            Hypoplasia of pulmonary cusps of absent pulmonary valve type

            Code:

            (449354002)

        • Status:

          Excluded

          Name:

          Pulmonary valve ring hypoplasia

          Code:

          (253586007)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of tricuspid valve

        Code:

        (43176009)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

        • Status:

          Included

          Name:

          Tricuspid annulus hypoplasia

          Code:

          (253376005)

      • Status:

        Excluded

        Name:

        Diffuse hypoplasia of right ventricle

        Code:

        (253518001)

      • Status:

        Included

        Name:

        Hypoplasia of right ventricular inflow tract

        Code:

        (253519009)

      • Status:

        Excluded

        Name:

        Hypoplasia of right ventricular outflow tract

        Code:

        (253520003)

        • Status:

          Excluded

          Name:

          Hypoplasia of right ventricular outflow tract and trabecular area

          Code:

          (253521004)

      • Status:

        Excluded

        Name:

        Hypoplasia of trabecular portion of right ventricle

        Code:

        (448966009)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

      • Status:

        Excluded

        Name:

        Isolated right ventricular hypoplasia

        Code:

        (718135001)

      • Status:

        Included

        Name:

        Right atrial hypoplasia

        Code:

        (253349005)

      • Status:

        Included

        Name:

        Right hypoplastic heart syndrome

        Code:

        (268180007)

      • Status:

        Excluded

        Name:

        Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle

        Code:

        (446659000)

  • Status:

    Included

    Name:

    Congenital anomaly of coronary artery

    Code:

    (28574005)

    • Status:

      Included

      Name:

      Abnormal coronary artery course

      Code:

      (253714001)

      • Status:

        Included

        Name:

        Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract

        Code:

        (253716004)

      • Status:

        Excluded

        Name:

        Anomalous course of coronary artery across right ventricular outflow tract

        Code:

        (461384000)

      • Status:

        Excluded

        Name:

        Anomalous course of coronary artery anterior to aorta

        Code:

        (461111008)

        • Status:

          Excluded

          Name:

          Anomalous course of coronary artery anterior to pulmonary trunk and aorta

          Code:

          (461109004)

      • Status:

        Excluded

        Name:

        Anomalous course of coronary artery anterior to pulmonary trunk

        Code:

        (461112001)

        • Status:

          Excluded

          Name:

          Anomalous course of coronary artery anterior to pulmonary trunk and aorta

          Code:

          (461109004)

      • Status:

        Excluded

        Name:

        Anomalous course of coronary artery posterior to aorta

        Code:

        (460585008)

        • Status:

          Excluded

          Name:

          Anomalous course of coronary artery posterior to pulmonary trunk and aorta

          Code:

          (461110009)

      • Status:

        Excluded

        Name:

        Anomalous course of coronary artery posterior to pulmonary trunk

        Code:

        (460584007)

        • Status:

          Excluded

          Name:

          Anomalous course of coronary artery posterior to pulmonary trunk and aorta

          Code:

          (461110009)

      • Status:

        Excluded

        Name:

        Anomalous course of coronary artery through infundibular septum

        Code:

        (461385004)

      • Status:

        Excluded

        Name:

        Anomalous intramural course of proximal portion of coronary artery above aortic sinus

        Code:

        (461383006)

      • Status:

        Excluded

        Name:

        Anomalous intramural course of proximal portion of coronary artery across commissure of aortic valve

        Code:

        (461382001)

      • Status:

        Excluded

        Name:

        Anomalous intramural course of proximal portion of coronary artery within aortic sinus

        Code:

        (461381008)

      • Status:

        Excluded

        Name:

        Circumflex runs posterior to aorta

        Code:

        (253719006)

      • Status:

        Excluded

        Name:

        Circumflex runs posterior to pulmonary trunk

        Code:

        (253718003)

      • Status:

        Excluded

        Name:

        Coronary artery runs between aorta and pulmonary trunk

        Code:

        (253717008)

      • Status:

        Included

        Name:

        Intramural coronary artery course

        Code:

        (253715000)

    • Status:

      Included

      Name:

      Anomalous coronary artery communication

      Code:

      (270510008)

      • Status:

        Included

        Name:

        Anomalous origin of coronary artery

        Code:

        (75398000)

        • Status:

          Included

          Name:

          Anomalous origin of coronary artery from aorta

          Code:

          (461105005)

          • Status:

            Excluded

            Name:

            Anomalous origin of accessory coronary artery from aortic sinus

            Code:

            (460581004)

          • Status:

            Excluded

            Name:

            Anomalous origin of conus artery from separate aortic sinus orifice

            Code:

            (460471001)

          • Status:

            Excluded

            Name:

            Anomalous origin of coronary arteries from anterior aortic sinus

            Code:

            (460510005)

          • Status:

            Excluded

            Name:

            Anomalous origin of coronary arteries from both aortic sinuses of bicuspid valve

            Code:

            (460517008)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus

            Code:

            (461435009)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from right coronary aortic sinus

            Code:

            (460588005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from right coronary aortic sinus

            Code:

            (460930004)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from left coronary artery aortic sinus

            Code:

            (460923005)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of single coronary artery from left coronary artery aortic sinus

            Code:

            (460587000)

          • Status:

            Excluded

            Name:

            Anomalous origin of single coronary artery from right coronary artery aortic sinus

            Code:

            (460937001)

          • Status:

            Excluded

            Name:

            Anomalous origin of sinus node coronary artery from separate aortic sinus orifice

            Code:

            (460583001)

          • Status:

            Excluded

            Name:

            Aortopulmonary coronary arterial course

            Code:

            (780842009)

        • Status:

          Included

          Name:

          Anomalous origin of coronary artery from pulmonary arterial tree

          Code:

          (253706007)

          • Status:

            Excluded

            Name:

            Anomalous origin of accessory coronary artery from pulmonary artery

            Code:

            (459066006)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from left pulmonary artery

            Code:

            (253708008)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from right pulmonary artery

            Code:

            (253707003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from pulmonary artery

            Code:

            (458039003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from pulmonary artery

            Code:

            (450301003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending coronary artery from pulmonary artery

              Code:

              (450302005)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from pulmonary artery

            Code:

            (450300002)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

          • Status:

            Included

            Name:

            Coronary artery arising from main pulmonary artery

            Code:

            (74218008)

        • Status:

          Excluded

          Name:

          Anomalous origin of large conus artery from right coronary artery

          Code:

          (460438000)

        • Status:

          Excluded

          Name:

          Anomalous origin of left coronary artery

          Code:

          (473444001)

          • Status:

            Excluded

            Name:

            Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471289009)

          • Status:

            Excluded

            Name:

            Anomalous origin of dual left anterior descending coronary arteries

            Code:

            (461436005)

            • Status:

              Included

              Name:

              Anomalous origin of dual left anterior descending coronary arteries from right coronary artery and left coronary artery

              Code:

              (460437005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471293003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471290000)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus

            Code:

            (461435009)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from pulmonary artery

            Code:

            (458039003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left circumflex coronary artery from right coronary aortic sinus

            Code:

            (460588005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471287006)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus

            Code:

            (471288001)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from pulmonary artery

            Code:

            (450301003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending coronary artery from pulmonary artery

              Code:

              (450302005)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from right coronary aortic sinus

            Code:

            (460930004)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery from right coronary artery

            Code:

            (460538002)

            • Status:

              Included

              Name:

              Anomalous origin of left anterior descending from right coronary artery

              Code:

              (253704005)

            • Status:

              Excluded

              Name:

              Anomalous origin of left circumflex artery from right coronary artery

              Code:

              (55546004)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

            Code:

            (471292008)

          • Status:

            Included

            Name:

            Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471291001)

        • Status:

          Excluded

          Name:

          Anomalous origin of right coronary artery

          Code:

          (473443007)

          • Status:

            Excluded

            Name:

            Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471289009)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471293003)

          • Status:

            Excluded

            Name:

            Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471290000)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471287006)

          • Status:

            Excluded

            Name:

            Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus

            Code:

            (471288001)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

            Code:

            (471292008)

          • Status:

            Included

            Name:

            Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471291001)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from left coronary artery

            Code:

            (460586009)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left anterior descending coronary artery

              Code:

              (460524009)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left circumflex coronary artery

              Code:

              (460531008)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from left coronary artery aortic sinus

            Code:

            (460923005)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus

              Code:

              (460944005)

          • Status:

            Excluded

            Name:

            Anomalous origin of right coronary artery from pulmonary artery

            Code:

            (450300002)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery from pulmonary artery

              Code:

              (460582006)

        • Status:

          Included

          Name:

          Variant coronary origin from aortic sinus

          Code:

          (253700001)

          • Status:

            Excluded

            Name:

            Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus

            Code:

            (471285003)

            • Status:

              Excluded

              Name:

              Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471289009)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471293003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471290000)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471287006)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

              Code:

              (471292008)

            • Status:

              Included

              Name:

              Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471291001)

            • Status:

              Excluded

              Name:

              Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471298007)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus

            Code:

            (471286002)

            • Status:

              Excluded

              Name:

              Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471289009)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471293003)

            • Status:

              Excluded

              Name:

              Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471290000)

            • Status:

              Excluded

              Name:

              Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus

              Code:

              (471288001)

            • Status:

              Excluded

              Name:

              Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus

              Code:

              (471292008)

            • Status:

              Included

              Name:

              Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus

              Code:

              (471291001)

            • Status:

              Excluded

              Name:

              Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus

              Code:

              (471299004)

          • Status:

            Included

            Name:

            Anomalous origin of coronary artery from non-facing sinus

            Code:

            (253703004)

            • Status:

              Excluded

              Name:

              Anomalous origin of single coronary artery from nonfacing aortic sinus

              Code:

              (471297002)

      • Status:

        Excluded

        Name:

        Aortic left ventricular tunnel with right coronary artery from tunnel

        Code:

        (448095003)

      • Status:

        Excluded

        Name:

        Systemic to coronary collateral artery

        Code:

        (460913001)

    • Status:

      Excluded

      Name:

      Anomalous coronary artery with acute angulation of less than 45 degrees relative to aorta

      Code:

      (461420008)

    • Status:

      Excluded

      Name:

      Anomalous coronary artery without acute angulation of less than 45 degrees relative to aorta

      Code:

      (461421007)

    • Status:

      Included

      Name:

      Balanced coronary system

      Code:

      (253730009)

    • Status:

      Excluded

      Name:

      Common coronary artery orifice

      Code:

      (461359003)

    • Status:

      Excluded

      Name:

      Congenital abnormal number of ostium of coronary artery

      Code:

      (783773000)

    • Status:

      Included

      Name:

      Congenital absence of coronary artery

      Code:

      (5230009)

    • Status:

      Excluded

      Name:

      Congenital atresia of left main stem coronary artery

      Code:

      (459065005)

    • Status:

      Excluded

      Name:

      Congenital atresia of ostium of coronary artery

      Code:

      (782698000)

      • Status:

        Excluded

        Name:

        Congenital atresia of right coronary artery orifice

        Code:

        (460545002)

    • Status:

      Included

      Name:

      Congenital coronary aneurysm

      Code:

      (204378009)

    • Status:

      Included

      Name:

      Congenital coronary artery calcification

      Code:

      (253725005)

    • Status:

      Excluded

      Name:

      Congenital coronary artery fistula

      Code:

      (11433004)

      • Status:

        Included

        Name:

        Congenital coronary arteriovenous fistula

        Code:

        (253720000)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to left atrium

        Code:

        (128555001)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to left ventricle

        Code:

        (128556000)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to pulmonary artery

        Code:

        (129582000)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to right atrium

        Code:

        (128557009)

      • Status:

        Excluded

        Name:

        Congenital coronary artery fistula to right ventricle

        Code:

        (128558004)

    • Status:

      Excluded

      Name:

      Congenital stenosis of ostium of coronary artery

      Code:

      (782699008)

    • Status:

      Included

      Name:

      Congenital stricture of coronary artery

      Code:

      (204379001)

    • Status:

      Included

      Name:

      Coronary orifice asymmetrical

      Code:

      (253711009)

    • Status:

      Excluded

      Name:

      Dual coronary orifice

      Code:

      (253712002)

      • Status:

        Excluded

        Name:

        Double barrel dual coronary artery orifices within aortic sinus

        Code:

        (461438006)

      • Status:

        Excluded

        Name:

        Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus

        Code:

        (461439003)

    • Status:

      Excluded

      Name:

      Interruption of coronary artery

      Code:

      (461104009)

    • Status:

      Included

      Name:

      Left dominant coronary system

      Code:

      (253729004)

    • Status:

      Excluded

      Name:

      Malposition of coronary artery orifice

      Code:

      (461331004)

      • Status:

        Excluded

        Name:

        Coronary artery orifice abnormally low

        Code:

        (461345005)

      • Status:

        Excluded

        Name:

        Coronary orifice abnormally high

        Code:

        (253710005)

    • Status:

      Included

      Name:

      Right dominant coronary system

      Code:

      (253728007)

    • Status:

      Included

      Name:

      Single coronary artery

      Code:

      (21981000)

      • Status:

        Excluded

        Name:

        Single coronary artery dividing into right coronary artery and left coronary artery

        Code:

        (461107002)

      • Status:

        Excluded

        Name:

        Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery

        Code:

        (471276003)

      • Status:

        Excluded

        Name:

        Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery

        Code:

        (471277007)

    • Status:

      Excluded

      Name:

      Systemic to pulmonary collateral artery from coronary artery

      Code:

      (448478000)

  • Status:

    Included

    Name:

    Congenital anomaly of heart valve

    Code:

    (70320004)

    • Status:

      Excluded

      Name:

      Abnormal number of cusps

      Code:

      (29375001)

      • Status:

        Included

        Name:

        Abnormal number of aortic valve cusps

        Code:

        (253609009)

        • Status:

          Included

          Name:

          Bicuspid aortic valve

          Code:

          (72352009)

          • Status:

            Excluded

            Name:

            Anterior-posterior orientation of bicuspid aortic valve

            Code:

            (448790004)

          • Status:

            Included

            Name:

            Bicuspid doming of aortic cusp

            Code:

            (250983006)

          • Status:

            Excluded

            Name:

            Familial bicuspid aortic valve

            Code:

            (770435005)

            • Status:

              Excluded

              Name:

              Bicuspid aortic valve-associated aortopathy

              Code:

              (890220003)

          • Status:

            Excluded

            Name:

            Right-left orientation of bicuspid aortic valve

            Code:

            (448819009)

        • Status:

          Included

          Name:

          Quadricuspid aortic valve

          Code:

          (253611000)

        • Status:

          Included

          Name:

          Unicuspid aortic valve

          Code:

          (253610004)

          • Status:

            Excluded

            Name:

            Acommissural unicuspid aortic valve

            Code:

            (448085005)

          • Status:

            Excluded

            Name:

            Unicommissural unicuspid aortic valve

            Code:

            (447696004)

      • Status:

        Excluded

        Name:

        Abnormal number of pulmonary valve cusps

        Code:

        (302943003)

        • Status:

          Included

          Name:

          Bicuspid pulmonary valve

          Code:

          (253599005)

          • Status:

            Excluded

            Name:

            Anterior-posterior orientation of bicuspid pulmonary valve

            Code:

            (448946000)

          • Status:

            Excluded

            Name:

            Right-left orientation of bicuspid pulmonary valve

            Code:

            (449140004)

        • Status:

          Excluded

          Name:

          Quadricuspid pulmonary valve

          Code:

          (253600008)

        • Status:

          Excluded

          Name:

          Unicuspid pulmonary valve

          Code:

          (253598002)

          • Status:

            Excluded

            Name:

            Acommissural unicuspid pulmonary valve

            Code:

            (448004007)

          • Status:

            Excluded

            Name:

            Unicommissural unicuspid pulmonary valve

            Code:

            (447697008)

      • Status:

        Excluded

        Name:

        Bicuspid cardiac valve

        Code:

        (76257003)

        • Status:

          Included

          Name:

          Bicuspid aortic valve

          Code:

          (72352009)

          • Status:

            Excluded

            Name:

            Anterior-posterior orientation of bicuspid aortic valve

            Code:

            (448790004)

          • Status:

            Included

            Name:

            Bicuspid doming of aortic cusp

            Code:

            (250983006)

          • Status:

            Excluded

            Name:

            Familial bicuspid aortic valve

            Code:

            (770435005)

            • Status:

              Excluded

              Name:

              Bicuspid aortic valve-associated aortopathy

              Code:

              (890220003)

          • Status:

            Excluded

            Name:

            Right-left orientation of bicuspid aortic valve

            Code:

            (448819009)

      • Status:

        Excluded

        Name:

        Monocuspid cardiac valve

        Code:

        (54073003)

      • Status:

        Excluded

        Name:

        Quadricuspid cardiac valve

        Code:

        (78320000)

    • Status:

      Excluded

      Name:

      Abnormal position of cardiac valve

      Code:

      (36133000)

      • Status:

        Excluded

        Name:

        Aortic orifice anterior with respect to pulmonary orifice

        Code:

        (445298006)

        • Status:

          Excluded

          Name:

          Aortic orifice anterior left with respect to pulmonary orifice

          Code:

          (445650008)

        • Status:

          Excluded

          Name:

          Aortic orifice anterior right with respect to pulmonary orifice

          Code:

          (445636003)

      • Status:

        Excluded

        Name:

        Aortic orifice left side by side with respect to pulmonary orifice

        Code:

        (445270008)

      • Status:

        Excluded

        Name:

        Aortic orifice posterior with respect to pulmonary orifice

        Code:

        (445373007)

        • Status:

          Excluded

          Name:

          Aortic orifice posterior left with respect to pulmonary orifice

          Code:

          (445607003)

      • Status:

        Excluded

        Name:

        Aortic orifice right side by side with respect to pulmonary orifice

        Code:

        (446670007)

      • Status:

        Excluded

        Name:

        Aortic valve overriding ventricular septum

        Code:

        (448161000)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve

          Code:

          (447698003)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve

          Code:

          (447671002)

      • Status:

        Included

        Name:

        Ebstein's anomaly of tricuspid valve

        Code:

        (204357006)

        • Status:

          Excluded

          Name:

          Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections

          Code:

          (447915002)

        • Status:

          Excluded

          Name:

          Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber

          Code:

          (449158005)

        • Status:

          Excluded

          Name:

          Ebstein's anomaly with atrial septal defect

          Code:

          (17394001)

        • Status:

          Excluded

          Name:

          Ebstein's anomaly with functional tricuspid stenosis

          Code:

          (448074008)

      • Status:

        Excluded

        Name:

        Overriding mitral valve

        Code:

        (253397006)

      • Status:

        Excluded

        Name:

        Overriding tricuspid valve

        Code:

        (253378006)

      • Status:

        Excluded

        Name:

        Overriding ventriculoarterial valve

        Code:

        (448948004)

        • Status:

          Excluded

          Name:

          Overriding left ventriculoarterial valve

          Code:

          (449567000)

        • Status:

          Excluded

          Name:

          Overriding right ventriculoarterial valve

          Code:

          (449568005)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with absent outlet septum and overriding truncal valve

        Code:

        (253562005)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum

          Code:

          (448780007)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim

          Code:

          (448827000)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447670001)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447672009)

    • Status:

      Excluded

      Name:

      Abnormality of left atrioventricular valve in double inlet ventricle

      Code:

      (253483002)

      • Status:

        Excluded

        Name:

        Abnormality of left atrioventricular valve chordae tendinae

        Code:

        (253501000)

        • Status:

          Excluded

          Name:

          Arcade abnormality of left atrioventricular valve chordae

          Code:

          (253505009)

        • Status:

          Excluded

          Name:

          Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle

          Code:

          (449098005)

        • Status:

          Excluded

          Name:

          Left atrioventricular valve chordae to outlet septum

          Code:

          (253504008)

        • Status:

          Excluded

          Name:

          Left atrioventricular valve chordae too long

          Code:

          (253503002)

        • Status:

          Excluded

          Name:

          Left atrioventricular valve chordae too short

          Code:

          (253502007)

      • Status:

        Excluded

        Name:

        Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle

        Code:

        (460614005)

      • Status:

        Excluded

        Name:

        Left atrioventricular valve atresia

        Code:

        (253484008)

        • Status:

          Excluded

          Name:

          Imperforate left atrioventricular valve

          Code:

          (253485009)

      • Status:

        Excluded

        Name:

        Left atrioventricular valve dysplasia

        Code:

        (253486005)

        • Status:

          Excluded

          Name:

          Left atrioventricular valve leaflet dysplasia

          Code:

          (253500004)

      • Status:

        Excluded

        Name:

        Left atrioventricular valve hypoplasia

        Code:

        (253487001)

        • Status:

          Excluded

          Name:

          Hypoplasia of left atrioventricular valve annulus in double inlet ventricle

          Code:

          (449228007)

      • Status:

        Excluded

        Name:

        Left atrioventricular valve leaflet abnormality

        Code:

        (253493009)

        • Status:

          Excluded

          Name:

          Absent left atrioventricular valve leaflets

          Code:

          (253494003)

        • Status:

          Excluded

          Name:

          Accessory tissue on left atrioventricular valve leaflet

          Code:

          (253499008)

        • Status:

          Excluded

          Name:

          Associated mass of left atrioventricular valve leaflet

          Code:

          (759611000000105)

        • Status:

          Excluded

          Name:

          Double orifice of left atrioventricular valve

          Code:

          (253495002)

        • Status:

          Excluded

          Name:

          Flail of left atrioventricular valve leaflet

          Code:

          (759641000000106)

        • Status:

          Excluded

          Name:

          Gelatinous left atrioventricular valve leaflet

          Code:

          (759621000000104)

        • Status:

          Excluded

          Name:

          Left atrioventricular valve leaflet dysplasia

          Code:

          (253500004)

        • Status:

          Excluded

          Name:

          Left atrioventricular valve prolapse

          Code:

          (253497005)

        • Status:

          Excluded

          Name:

          Noncoapting left atrioventricular valve leaflet

          Code:

          (759631000000102)

        • Status:

          Excluded

          Name:

          True cleft of left atrioventricular valve leaflet

          Code:

          (253498000)

      • Status:

        Excluded

        Name:

        Left atrioventricular valve stenosis in double inlet ventricle

        Code:

        (449099002)

      • Status:

        Excluded

        Name:

        Overriding left atrioventricular valve

        Code:

        (253489003)

      • Status:

        Excluded

        Name:

        Straddling left atrioventricular valve

        Code:

        (253492004)

    • Status:

      Excluded

      Name:

      Abnormality of left atrioventricular valve papillary muscle

      Code:

      (253506005)

      • Status:

        Excluded

        Name:

        Absent left atrioventricular valve papillary muscle

        Code:

        (253508006)

      • Status:

        Excluded

        Name:

        Congenital abnormality of left atrioventricular valve papillary muscle

        Code:

        (759931000000105)

      • Status:

        Excluded

        Name:

        Fused left atrioventricular valve papillary muscles

        Code:

        (253509003)

      • Status:

        Excluded

        Name:

        Hypoplastic left atrioventricular valve papillary muscle

        Code:

        (253510008)

      • Status:

        Excluded

        Name:

        Parachute malformation of left atrioventricular valve

        Code:

        (253507001)

    • Status:

      Excluded

      Name:

      Absent right atrioventricular valve leaflets

      Code:

      (253465005)

      • Status:

        Excluded

        Name:

        Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice)

        Code:

        (445330003)

    • Status:

      Included

      Name:

      Atrioventricular septal defect and common atrioventricular junction

      Code:

      (253414002)

      • Status:

        Included

        Name:

        Atrioventricular septal defect - isolated ventricular component

        Code:

        (253415001)

      • Status:

        Included

        Name:

        Atrioventricular septal defect - ventricular component

        Code:

        (253417009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect - ventricular component under inferior bridging leaflet

          Code:

          (253422009)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet

            Code:

            (448182006)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum

            Code:

            (449379004)

        • Status:

          Included

          Name:

          Atrioventricular septal defect - ventricular component under superior bridging leaflet

          Code:

          (253418004)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet

            Code:

            (448183001)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall

            Code:

            (253421002)

          • Status:

            Included

            Name:

            Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum

            Code:

            (253419007)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum

            Code:

            (253420001)

          • Status:

            Excluded

            Name:

            Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest

            Code:

            (448919005)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with restrictive ventricular component

          Code:

          (448331000)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices

          Code:

          (448184007)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

        Code:

        (448118003)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with balanced ventricles

        Code:

        (871643004)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with common atrioventricular orifice

        Code:

        (444961009)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with separate atrioventricular orifices

        Code:

        (445002005)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle

        Code:

        (445264002)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle

        Code:

        (445299003)

      • Status:

        Included

        Name:

        Atrioventricular septal defect: atrial and ventricular components

        Code:

        (253416000)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle

          Code:

          (840497008)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle

          Code:

          (840517009)

      • Status:

        Excluded

        Name:

        Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves

        Code:

        (871625003)

    • Status:

      Excluded

      Name:

      Atypical left ventricular component of common atrioventricular valve

      Code:

      (871666003)

    • Status:

      Excluded

      Name:

      Atypical right ventricular component of common atrioventricular valve

      Code:

      (871672003)

    • Status:

      Excluded

      Name:

      Common atrioventricular junction

      Code:

      (726335002)

      • Status:

        Excluded

        Name:

        Common atrioventricular junction with spontaneous fibrous closure of atrioventricular septal defect

        Code:

        (840495000)

      • Status:

        Excluded

        Name:

        Common atrium with common atrioventricular junction

        Code:

        (871627006)

    • Status:

      Excluded

      Name:

      Common atrioventricular valve in functionally univentricular heart

      Code:

      (448729006)

    • Status:

      Excluded

      Name:

      Common atrioventricular valve with unbalanced commitment of valve to ventricle

      Code:

      (871622000)

      • Status:

        Excluded

        Name:

        Common atrioventricular valve with unbalanced commitment of valve to right ventricle

        Code:

        (871624004)

    • Status:

      Included

      Name:

      Congenital abnormality of atrioventricular valves in atrioventricular septal defect

      Code:

      (253374008)

      • Status:

        Excluded

        Name:

        Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect

        Code:

        (449382009)

      • Status:

        Excluded

        Name:

        Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect

        Code:

        (449383004)

    • Status:

      Excluded

      Name:

      Congenital abnormality of left atrioventricular valve in double inlet ventricle

      Code:

      (448947009)

      • Status:

        Excluded

        Name:

        Left atrioventricular valve stenosis in double inlet ventricle

        Code:

        (449099002)

    • Status:

      Excluded

      Name:

      Congenital abnormality of right atrioventricular valve in double inlet ventricle

      Code:

      (449316002)

      • Status:

        Excluded

        Name:

        Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle

        Code:

        (449315003)

      • Status:

        Excluded

        Name:

        Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle

        Code:

        (449031001)

        • Status:

          Excluded

          Name:

          Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice)

          Code:

          (445330003)

      • Status:

        Excluded

        Name:

        Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle

        Code:

        (449032008)

    • Status:

      Excluded

      Name:

      Congenital abnormality of truncal valve

      Code:

      (890402009)

      • Status:

        Excluded

        Name:

        Accessory tissue on truncal valve cusp

        Code:

        (253584005)

      • Status:

        Excluded

        Name:

        Bicuspid truncal valve

        Code:

        (448793002)

      • Status:

        Excluded

        Name:

        Commissural fusion of truncal valve

        Code:

        (449139001)

      • Status:

        Excluded

        Name:

        Congenital regurgitation of truncal valve

        Code:

        (840488009)

      • Status:

        Excluded

        Name:

        Congenital stenosis of truncal valve

        Code:

        (871594004)

      • Status:

        Excluded

        Name:

        Truncal valve dysplasia

        Code:

        (253580001)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with absent outlet septum and overriding truncal valve

        Code:

        (253562005)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum

          Code:

          (448780007)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim

          Code:

          (448827000)

    • Status:

      Excluded

      Name:

      Congenital absence of chordae tendineae

      Code:

      (92963009)

      • Status:

        Excluded

        Name:

        Absence of mitral chordae tendinae

        Code:

        (449005003)

        • Status:

          Excluded

          Name:

          Absence of primary mitral chordae tendinae

          Code:

          (449563001)

      • Status:

        Excluded

        Name:

        Congenital absence of chordae tendineae of tricuspid valve

        Code:

        (876846006)

    • Status:

      Excluded

      Name:

      Congenital absence of papillary muscle

      Code:

      (92974000)

      • Status:

        Excluded

        Name:

        Absent common atrioventricular valve papillary muscle

        Code:

        (253451008)

      • Status:

        Excluded

        Name:

        Absent left atrioventricular valve papillary muscle

        Code:

        (253508006)

      • Status:

        Excluded

        Name:

        Absent mitral papillary muscle

        Code:

        (253411005)

      • Status:

        Excluded

        Name:

        Absent right atrioventricular valve papillary muscle

        Code:

        (253480004)

      • Status:

        Excluded

        Name:

        Absent tricuspid papillary muscle

        Code:

        (253392000)

    • Status:

      Included

      Name:

      Congenital anomaly of aortic valve

      Code:

      (13689005)

      • Status:

        Excluded

        Name:

        Aortic orifice anterior with respect to pulmonary orifice

        Code:

        (445298006)

        • Status:

          Excluded

          Name:

          Aortic orifice anterior left with respect to pulmonary orifice

          Code:

          (445650008)

        • Status:

          Excluded

          Name:

          Aortic orifice anterior right with respect to pulmonary orifice

          Code:

          (445636003)

      • Status:

        Excluded

        Name:

        Aortic orifice left side by side with respect to pulmonary orifice

        Code:

        (445270008)

      • Status:

        Excluded

        Name:

        Aortic orifice posterior with respect to pulmonary orifice

        Code:

        (445373007)

        • Status:

          Excluded

          Name:

          Aortic orifice posterior left with respect to pulmonary orifice

          Code:

          (445607003)

      • Status:

        Excluded

        Name:

        Aortic orifice right side by side with respect to pulmonary orifice

        Code:

        (446670007)

      • Status:

        Excluded

        Name:

        Aortic valve overriding ventricular septum

        Code:

        (448161000)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve

          Code:

          (447698003)

        • Status:

          Excluded

          Name:

          Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve

          Code:

          (447671002)

      • Status:

        Excluded

        Name:

        Commissural fusion of aortic valve

        Code:

        (253602000)

      • Status:

        Excluded

        Name:

        Congenital abnormal shape of aortic valve

        Code:

        (92888002)

      • Status:

        Excluded

        Name:

        Congenital abnormality of aortic valve cusp

        Code:

        (447937009)

        • Status:

          Included

          Name:

          Abnormal number of aortic valve cusps

          Code:

          (253609009)

          • Status:

            Included

            Name:

            Bicuspid aortic valve

            Code:

            (72352009)

            • Status:

              Excluded

              Name:

              Anterior-posterior orientation of bicuspid aortic valve

              Code:

              (448790004)

            • Status:

              Included

              Name:

              Bicuspid doming of aortic cusp

              Code:

              (250983006)

            • Status:

              Excluded

              Name:

              Familial bicuspid aortic valve

              Code:

              (770435005)

              • Status:

                Excluded

                Name:

                Bicuspid aortic valve-associated aortopathy

                Code:

                (890220003)

            • Status:

              Excluded

              Name:

              Right-left orientation of bicuspid aortic valve

              Code:

              (448819009)

          • Status:

            Included

            Name:

            Quadricuspid aortic valve

            Code:

            (253611000)

          • Status:

            Included

            Name:

            Unicuspid aortic valve

            Code:

            (253610004)

            • Status:

              Excluded

              Name:

              Acommissural unicuspid aortic valve

              Code:

              (448085005)

            • Status:

              Excluded

              Name:

              Unicommissural unicuspid aortic valve

              Code:

              (447696004)

        • Status:

          Excluded

          Name:

          Absent aortic valve cusp

          Code:

          (448634001)

        • Status:

          Included

          Name:

          Accessory tissue on aortic valve cusp

          Code:

          (253608001)

        • Status:

          Included

          Name:

          Hypoplasia of aortic valve cusp

          Code:

          (253607006)

      • Status:

        Included

        Name:

        Congenital abnormality of arterial valves

        Code:

        (253578007)

        • Status:

          Included

          Name:

          Accessory tissue on pulmonary valve cusp

          Code:

          (253597007)

        • Status:

          Included

          Name:

          Bicuspid pulmonary valve

          Code:

          (253599005)

          • Status:

            Excluded

            Name:

            Anterior-posterior orientation of bicuspid pulmonary valve

            Code:

            (448946000)

          • Status:

            Excluded

            Name:

            Right-left orientation of bicuspid pulmonary valve

            Code:

            (449140004)

        • Status:

          Excluded

          Name:

          Discontinuity between mitral valve and pulmonary valve

          Code:

          (447683000)

        • Status:

          Included

          Name:

          Quadricuspid aortic valve

          Code:

          (253611000)

        • Status:

          Excluded

          Name:

          Quadricuspid pulmonary valve

          Code:

          (253600008)

        • Status:

          Included

          Name:

          Unicuspid aortic valve

          Code:

          (253610004)

          • Status:

            Excluded

            Name:

            Acommissural unicuspid aortic valve

            Code:

            (448085005)

          • Status:

            Excluded

            Name:

            Unicommissural unicuspid aortic valve

            Code:

            (447696004)

      • Status:

        Included

        Name:

        Congenital absence of aortic valve

        Code:

        (92960007)

        • Status:

          Excluded

          Name:

          Absent aortic valve cusp

          Code:

          (448634001)

      • Status:

        Included

        Name:

        Congenital atresia of aortic valve

        Code:

        (51442005)

      • Status:

        Excluded

        Name:

        Congenital dysplasia of aortic valve

        Code:

        (871597006)

      • Status:

        Excluded

        Name:

        Congenital hypertrophy of aortic valve

        Code:

        (93069000)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of aortic valve

        Code:

        (93237004)

        • Status:

          Included

          Name:

          Aortic valve ring hypoplasia

          Code:

          (253601007)

        • Status:

          Included

          Name:

          Hypoplasia of aortic valve cusp

          Code:

          (253607006)

      • Status:

        Included

        Name:

        Congenital insufficiency of aortic valve

        Code:

        (28656008)

      • Status:

        Excluded

        Name:

        Congenital prolapse of aortic valve

        Code:

        (447822009)

        • Status:

          Excluded

          Name:

          Laubry Pezzi syndrome

          Code:

          (764955006)

      • Status:

        Excluded

        Name:

        Double aortic valve

        Code:

        (77696009)

      • Status:

        Included

        Name:

        Eccentric opening of aortic valve

        Code:

        (253603005)

        • Status:

          Excluded

          Name:

          Eccentric opening of tricuspid aortic valve

          Code:

          (449123008)

    • Status:

      Excluded

      Name:

      Congenital anomaly of left-sided atrioventricular valve in double inlet ventricle

      Code:

      (871583003)

    • Status:

      Included

      Name:

      Congenital anomaly of mitral valve

      Code:

      (75372006)

      • Status:

        Included

        Name:

        Accessory tissue on mitral leaflet

        Code:

        (253405007)

      • Status:

        Excluded

        Name:

        Congenital abnormal shape of mitral valve

        Code:

        (92923008)

        • Status:

          Excluded

          Name:

          Congenital deformity of mitral valve annulus

          Code:

          (448497000)

      • Status:

        Excluded

        Name:

        Congenital abnormality of leaflet of mitral valve

        Code:

        (759461000000109)

        • Status:

          Included

          Name:

          Anterior leaflet of mitral valve attached to septum

          Code:

          (253404006)

        • Status:

          Included

          Name:

          Cleft leaflet of mitral valve

          Code:

          (78495000)

        • Status:

          Excluded

          Name:

          Congenital billowing of mitral valve leaflet

          Code:

          (449110001)

        • Status:

          Excluded

          Name:

          Congenital midvalvar ring of mitral leaflet

          Code:

          (447774002)

        • Status:

          Excluded

          Name:

          Ebstein-like downward displacement of mitral valve

          Code:

          (253403000)

        • Status:

          Included

          Name:

          Mitral leaflet dysplasia

          Code:

          (253396002)

        • Status:

          Included

          Name:

          Supernumerary cusps of the mitral valve

          Code:

          (204363002)

      • Status:

        Excluded

        Name:

        Congenital abnormality of mitral chordae tendinae

        Code:

        (760051000000101)

        • Status:

          Excluded

          Name:

          Absence of mitral chordae tendinae

          Code:

          (449005003)

          • Status:

            Excluded

            Name:

            Absence of primary mitral chordae tendinae

            Code:

            (449563001)

      • Status:

        Excluded

        Name:

        Congenital abnormality of mitral papillary muscle

        Code:

        (759521000000100)

      • Status:

        Excluded

        Name:

        Congenital absence of mitral valve

        Code:

        (92969008)

        • Status:

          Excluded

          Name:

          Absence of mitral chordae tendinae

          Code:

          (449005003)

          • Status:

            Excluded

            Name:

            Absence of primary mitral chordae tendinae

            Code:

            (449563001)

        • Status:

          Excluded

          Name:

          Absent mitral papillary muscle

          Code:

          (253411005)

      • Status:

        Included

        Name:

        Congenital atresia of mitral valve

        Code:

        (23063005)

        • Status:

          Excluded

          Name:

          Atresia of mitral valve with absent atrioventricular connection

          Code:

          (838333005)

        • Status:

          Excluded

          Name:

          Mitral atresia with imperforate mitral valve

          Code:

          (871652008)

      • Status:

        Excluded

        Name:

        Congenital hypertrophy of mitral valve

        Code:

        (93234006)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of mitral valve

        Code:

        (93271008)

        • Status:

          Excluded

          Name:

          Hypoplasia of mitral valve annulus

          Code:

          (449270002)

        • Status:

          Excluded

          Name:

          Hypoplastic mitral papillary muscle

          Code:

          (253413008)

      • Status:

        Included

        Name:

        Congenital insufficiency of mitral valve

        Code:

        (29928006)

      • Status:

        Excluded

        Name:

        Congenital prolapse of mitral valve

        Code:

        (890393009)

      • Status:

        Excluded

        Name:

        Continuity between mitral valve and pulmonary valve

        Code:

        (447681003)

      • Status:

        Excluded

        Name:

        Discontinuity between mitral valve and pulmonary valve

        Code:

        (447683000)

      • Status:

        Excluded

        Name:

        Double mitral valve

        Code:

        (78196008)

      • Status:

        Excluded

        Name:

        Ebstein-like malformation of mitral valve

        Code:

        (109431006)

      • Status:

        Included

        Name:

        Fused commissures of mitral valve

        Code:

        (91634006)

      • Status:

        Excluded

        Name:

        Fused mitral papillary muscles

        Code:

        (253412003)

      • Status:

        Included

        Name:

        Lutembacher's syndrome

        Code:

        (204319006)

      • Status:

        Included

        Name:

        Mitral valve dysplasia

        Code:

        (253395003)

        • Status:

          Included

          Name:

          Mitral leaflet dysplasia

          Code:

          (253396002)

      • Status:

        Excluded

        Name:

        Multiple mitral papillary muscles with hammock valve

        Code:

        (448844001)

      • Status:

        Excluded

        Name:

        Overriding mitral valve

        Code:

        (253397006)

      • Status:

        Included

        Name:

        Parachute malformation of mitral valve

        Code:

        (204362007)

        • Status:

          Excluded

          Name:

          Shone complex

          Code:

          (41371000119100)

      • Status:

        Excluded

        Name:

        Straddling mitral valve

        Code:

        (253399009)

    • Status:

      Excluded

      Name:

      Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle

      Code:

      (871585005)

    • Status:

      Included

      Name:

      Congenital anomaly of tricuspid valve

      Code:

      (4374004)

      • Status:

        Excluded

        Name:

        Accessory tissue on tricuspid leaflet

        Code:

        (253384009)

      • Status:

        Excluded

        Name:

        Congenital abnormal shape of tricuspid valve

        Code:

        (92944008)

        • Status:

          Excluded

          Name:

          Parachute malformation of tricuspid valve

          Code:

          (253391007)

      • Status:

        Excluded

        Name:

        Congenital abnormality of tricuspid chordae tendinae

        Code:

        (447829000)

        • Status:

          Excluded

          Name:

          Abnormal attachment of tricuspid chordae tendinae

          Code:

          (449455000)

        • Status:

          Excluded

          Name:

          Congenital absence of chordae tendineae of tricuspid valve

          Code:

          (876846006)

        • Status:

          Excluded

          Name:

          Obstructed interchordal space of tricuspid chordae tendinae

          Code:

          (449534004)

      • Status:

        Excluded

        Name:

        Congenital abnormality of tricuspid leaflet

        Code:

        (447830005)

        • Status:

          Excluded

          Name:

          Absent tricuspid leaflet

          Code:

          (253381001)

        • Status:

          Excluded

          Name:

          Cleft leaflet of tricuspid valve

          Code:

          (60232001)

        • Status:

          Included

          Name:

          Ebstein's anomaly of tricuspid valve

          Code:

          (204357006)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections

            Code:

            (447915002)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber

            Code:

            (449158005)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly with atrial septal defect

            Code:

            (17394001)

          • Status:

            Excluded

            Name:

            Ebstein's anomaly with functional tricuspid stenosis

            Code:

            (448074008)

      • Status:

        Excluded

        Name:

        Congenital abnormality of tricuspid papillary muscle

        Code:

        (448073002)

        • Status:

          Excluded

          Name:

          Absent tricuspid papillary muscle

          Code:

          (253392000)

        • Status:

          Excluded

          Name:

          Fused tricuspid papillary muscle

          Code:

          (253393005)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

        • Status:

          Excluded

          Name:

          Parachute malformation of tricuspid valve

          Code:

          (253391007)

      • Status:

        Excluded

        Name:

        Congenital absence of tricuspid valve

        Code:

        (92976003)

        • Status:

          Excluded

          Name:

          Absent tricuspid leaflet

          Code:

          (253381001)

        • Status:

          Excluded

          Name:

          Absent tricuspid papillary muscle

          Code:

          (253392000)

        • Status:

          Excluded

          Name:

          Congenital absence of chordae tendineae of tricuspid valve

          Code:

          (876846006)

      • Status:

        Included

        Name:

        Congenital atresia of tricuspid valve

        Code:

        (63042009)

        • Status:

          Included

          Name:

          Congenital tricuspid atresia and stenosis

          Code:

          (204354004)

        • Status:

          Excluded

          Name:

          Tricuspid atresia with absent right atrioventricular connection

          Code:

          (871655005)

      • Status:

        Excluded

        Name:

        Congenital hypertrophy of tricuspid valve

        Code:

        (93076005)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of tricuspid valve

        Code:

        (43176009)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

        • Status:

          Included

          Name:

          Tricuspid annulus hypoplasia

          Code:

          (253376005)

      • Status:

        Included

        Name:

        Congenital insufficiency of tricuspid valve

        Code:

        (83119008)

      • Status:

        Included

        Name:

        Congenital stenosis of tricuspid valve

        Code:

        (36233006)

        • Status:

          Included

          Name:

          Congenital tricuspid atresia and stenosis

          Code:

          (204354004)

      • Status:

        Included

        Name:

        Dilatation of tricuspid annulus

        Code:

        (253377001)

      • Status:

        Included

        Name:

        Double orifice of tricuspid valve

        Code:

        (253382008)

      • Status:

        Excluded

        Name:

        Overriding tricuspid valve

        Code:

        (253378006)

      • Status:

        Included

        Name:

        Straddling tricuspid valve

        Code:

        (253379003)

      • Status:

        Included

        Name:

        Ventricular septal defect between left ventricle and right atrium

        Code:

        (204312002)

    • Status:

      Excluded

      Name:

      Congenital atresia of cardiac valve

      Code:

      (123656005)

      • Status:

        Included

        Name:

        Congenital atresia of aortic valve

        Code:

        (51442005)

      • Status:

        Included

        Name:

        Congenital atresia of mitral valve

        Code:

        (23063005)

        • Status:

          Excluded

          Name:

          Atresia of mitral valve with absent atrioventricular connection

          Code:

          (838333005)

        • Status:

          Excluded

          Name:

          Mitral atresia with imperforate mitral valve

          Code:

          (871652008)

      • Status:

        Included

        Name:

        Congenital atresia of the pulmonary valve

        Code:

        (204342004)

        • Status:

          Included

          Name:

          Imperforate pulmonary valve

          Code:

          (253593006)

        • Status:

          Excluded

          Name:

          Pulmonary atresia with absent pulmonary artery

          Code:

          (253625004)

        • Status:

          Excluded

          Name:

          Pulmonary atresia with confluent pulmonary arteries

          Code:

          (253624000)

        • Status:

          Included

          Name:

          Pulmonary atresia with ventricular septal defect

          Code:

          (253591008)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from left ventricle

            Code:

            (447838003)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from right ventricle

            Code:

            (447839006)

          • Status:

            Excluded

            Name:

            Pulmonary atresia with ventricular septal defect of Fallot type

            Code:

            (448155003)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

        • Status:

          Excluded

          Name:

          Solitary aortic trunk with pulmonary atresia

          Code:

          (253303001)

      • Status:

        Included

        Name:

        Congenital atresia of tricuspid valve

        Code:

        (63042009)

        • Status:

          Included

          Name:

          Congenital tricuspid atresia and stenosis

          Code:

          (204354004)

        • Status:

          Excluded

          Name:

          Tricuspid atresia with absent right atrioventricular connection

          Code:

          (871655005)

    • Status:

      Excluded

      Name:

      Congenital cleft of cardiac valve

      Code:

      (123658006)

      • Status:

        Included

        Name:

        Cleft leaflet of mitral valve

        Code:

        (78495000)

      • Status:

        Excluded

        Name:

        Cleft leaflet of tricuspid valve

        Code:

        (60232001)

    • Status:

      Excluded

      Name:

      Congenital dysplasia of cardiac valve

      Code:

      (718128009)

      • Status:

        Excluded

        Name:

        Congenital dysplasia of aortic valve

        Code:

        (871597006)

      • Status:

        Included

        Name:

        Mitral valve dysplasia

        Code:

        (253395003)

        • Status:

          Included

          Name:

          Mitral leaflet dysplasia

          Code:

          (253396002)

      • Status:

        Excluded

        Name:

        Polyvalvular heart disease syndrome

        Code:

        (723448007)

      • Status:

        Included

        Name:

        Pulmonary valve dysplasia

        Code:

        (253588008)

      • Status:

        Excluded

        Name:

        Truncal valve dysplasia

        Code:

        (253580001)

    • Status:

      Included

      Name:

      Congenital pulmonary valve abnormality

      Code:

      (204339005)

      • Status:

        Excluded

        Name:

        Combined valvular-subvalvular pulmonic stenosis

        Code:

        (92830003)

      • Status:

        Included

        Name:

        Commissural fusion of pulmonary valve

        Code:

        (253587003)

      • Status:

        Excluded

        Name:

        Congenital abnormal shape of pulmonary valve

        Code:

        (92941000)

      • Status:

        Included

        Name:

        Congenital abnormality of arterial valves

        Code:

        (253578007)

        • Status:

          Included

          Name:

          Accessory tissue on pulmonary valve cusp

          Code:

          (253597007)

        • Status:

          Included

          Name:

          Bicuspid pulmonary valve

          Code:

          (253599005)

          • Status:

            Excluded

            Name:

            Anterior-posterior orientation of bicuspid pulmonary valve

            Code:

            (448946000)

          • Status:

            Excluded

            Name:

            Right-left orientation of bicuspid pulmonary valve

            Code:

            (449140004)

        • Status:

          Excluded

          Name:

          Discontinuity between mitral valve and pulmonary valve

          Code:

          (447683000)

        • Status:

          Included

          Name:

          Quadricuspid aortic valve

          Code:

          (253611000)

        • Status:

          Excluded

          Name:

          Quadricuspid pulmonary valve

          Code:

          (253600008)

        • Status:

          Included

          Name:

          Unicuspid aortic valve

          Code:

          (253610004)

          • Status:

            Excluded

            Name:

            Acommissural unicuspid aortic valve

            Code:

            (448085005)

          • Status:

            Excluded

            Name:

            Unicommissural unicuspid aortic valve

            Code:

            (447696004)

      • Status:

        Excluded

        Name:

        Congenital abnormality of pulmonary valve cusp

        Code:

        (448604006)

        • Status:

          Excluded

          Name:

          Abnormal number of pulmonary valve cusps

          Code:

          (302943003)

          • Status:

            Included

            Name:

            Bicuspid pulmonary valve

            Code:

            (253599005)

            • Status:

              Excluded

              Name:

              Anterior-posterior orientation of bicuspid pulmonary valve

              Code:

              (448946000)

            • Status:

              Excluded

              Name:

              Right-left orientation of bicuspid pulmonary valve

              Code:

              (449140004)

          • Status:

            Excluded

            Name:

            Quadricuspid pulmonary valve

            Code:

            (253600008)

          • Status:

            Excluded

            Name:

            Unicuspid pulmonary valve

            Code:

            (253598002)

            • Status:

              Excluded

              Name:

              Acommissural unicuspid pulmonary valve

              Code:

              (448004007)

            • Status:

              Excluded

              Name:

              Unicommissural unicuspid pulmonary valve

              Code:

              (447697008)

        • Status:

          Excluded

          Name:

          Absence of pulmonary valve cusp

          Code:

          (449133000)

        • Status:

          Included

          Name:

          Congenital fusion of pulmonic cusps

          Code:

          (204345002)

        • Status:

          Included

          Name:

          Pulmonary valve cusp hypoplasia

          Code:

          (253585006)

          • Status:

            Excluded

            Name:

            Hypoplasia of pulmonary cusps of absent pulmonary valve type

            Code:

            (449354002)

        • Status:

          Excluded

          Name:

          Supernumerary pulmonary valve cusps

          Code:

          (204352000)

      • Status:

        Included

        Name:

        Congenital absence of pulmonary valve

        Code:

        (6996004)

        • Status:

          Excluded

          Name:

          Absence of pulmonary valve cusp

          Code:

          (449133000)

        • Status:

          Included

          Name:

          Absent pulmonary valve syndrome

          Code:

          (253596003)

          • Status:

            Excluded

            Name:

            Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type

            Code:

            (448475002)

        • Status:

          Excluded

          Name:

          Hypoplasia of pulmonary cusps of absent pulmonary valve type

          Code:

          (449354002)

        • Status:

          Excluded

          Name:

          Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome

          Code:

          (784353002)

        • Status:

          Excluded

          Name:

          Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

          Code:

          (766976003)

        • Status:

          Excluded

          Name:

          Tetralogy of Fallot with absent pulmonary valve

          Code:

          (399228007)

      • Status:

        Included

        Name:

        Congenital atresia of the pulmonary valve

        Code:

        (204342004)

        • Status:

          Included

          Name:

          Imperforate pulmonary valve

          Code:

          (253593006)

        • Status:

          Excluded

          Name:

          Pulmonary atresia with absent pulmonary artery

          Code:

          (253625004)

        • Status:

          Excluded

          Name:

          Pulmonary atresia with confluent pulmonary arteries

          Code:

          (253624000)

        • Status:

          Included

          Name:

          Pulmonary atresia with ventricular septal defect

          Code:

          (253591008)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from left ventricle

            Code:

            (447838003)

          • Status:

            Excluded

            Name:

            Pulmonary atresia and ventricular septal defect with aorta from right ventricle

            Code:

            (447839006)

          • Status:

            Excluded

            Name:

            Pulmonary atresia with ventricular septal defect of Fallot type

            Code:

            (448155003)

          • Status:

            Included

            Name:

            Tetralogy of Fallot with pulmonary atresia

            Code:

            (253513005)

            • Status:

              Excluded

              Name:

              Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

              Code:

              (762433009)

        • Status:

          Excluded

          Name:

          Solitary aortic trunk with pulmonary atresia

          Code:

          (253303001)

      • Status:

        Included

        Name:

        Congenital fusion of pulmonary valve segment

        Code:

        (204346001)

      • Status:

        Excluded

        Name:

        Congenital hypertrophy of pulmonary valve

        Code:

        (93075009)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of pulmonary valve

        Code:

        (93287006)

        • Status:

          Included

          Name:

          Pulmonary valve cusp hypoplasia

          Code:

          (253585006)

          • Status:

            Excluded

            Name:

            Hypoplasia of pulmonary cusps of absent pulmonary valve type

            Code:

            (449354002)

        • Status:

          Excluded

          Name:

          Pulmonary valve ring hypoplasia

          Code:

          (253586007)

      • Status:

        Included

        Name:

        Congenital insufficiency of pulmonary valve

        Code:

        (15096009)

      • Status:

        Excluded

        Name:

        Continuity between mitral valve and pulmonary valve

        Code:

        (447681003)

      • Status:

        Excluded

        Name:

        Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type

        Code:

        (871599009)

      • Status:

        Excluded

        Name:

        Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type

        Code:

        (871601006)

      • Status:

        Excluded

        Name:

        Eccentric opening of tricuspid pulmonary valve

        Code:

        (449124002)

      • Status:

        Included

        Name:

        Fallot's trilogy

        Code:

        (204351007)

      • Status:

        Included

        Name:

        Prune belly syndrome with pulmonic stenosis, mental retardation and deafness

        Code:

        (236529001)

      • Status:

        Included

        Name:

        Pulmonary valve dysplasia

        Code:

        (253588008)

      • Status:

        Excluded

        Name:

        Pulmonic stenosis and congenital nephrosis

        Code:

        (236530006)

      • Status:

        Included

        Name:

        Tetralogy of Fallot

        Code:

        (86299006)

        • Status:

          Included

          Name:

          Dextraposition of aorta in Fallot's tetralogy

          Code:

          (253514004)

        • Status:

          Excluded

          Name:

          Fallot complex with intellectual disability and growth delay syndrome

          Code:

          (723336008)

        • Status:

          Included

          Name:

          Pentalogy of Fallot

          Code:

          (204306007)

        • Status:

          Excluded

          Name:

          Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome

          Code:

          (766976003)

        • Status:

          Excluded

          Name:

          Tetralogy of Fallot with absent pulmonary valve

          Code:

          (399228007)

        • Status:

          Included

          Name:

          Tetralogy of Fallot with pulmonary atresia

          Code:

          (253513005)

          • Status:

            Excluded

            Name:

            Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery

            Code:

            (762433009)

        • Status:

          Included

          Name:

          Tetralogy of Fallot with pulmonary stenosis

          Code:

          (253512000)

        • Status:

          Included

          Name:

          Ventricular septal defect in Fallot's tetralogy

          Code:

          (253515003)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447670001)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447672009)

    • Status:

      Excluded

      Name:

      Congenital valvular insufficiency

      Code:

      (1131009)

      • Status:

        Excluded

        Name:

        Atrioventricular septal defect with atrioventricular valve regurgitation

        Code:

        (448119006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure

          Code:

          (449459006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure

          Code:

          (449456004)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure

          Code:

          (449457008)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure

          Code:

          (449537006)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure

          Code:

          (449538001)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure

          Code:

          (449539009)

        • Status:

          Excluded

          Name:

          Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure

          Code:

          (449490008)

      • Status:

        Included

        Name:

        Congenital insufficiency of aortic valve

        Code:

        (28656008)

      • Status:

        Included

        Name:

        Congenital insufficiency of mitral valve

        Code:

        (29928006)

      • Status:

        Included

        Name:

        Congenital insufficiency of pulmonary valve

        Code:

        (15096009)

      • Status:

        Included

        Name:

        Congenital insufficiency of tricuspid valve

        Code:

        (83119008)

      • Status:

        Excluded

        Name:

        Congenital regurgitation of truncal valve

        Code:

        (840488009)

    • Status:

      Excluded

      Name:

      Deficient mural leaflet of left ventricular component of common atrioventricular valve

      Code:

      (840469002)

    • Status:

      Excluded

      Name:

      Double cardiac valve orifice

      Code:

      (36079008)

    • Status:

      Excluded

      Name:

      Double orifice of common atrioventricular valve

      Code:

      (253441007)

    • Status:

      Excluded

      Name:

      Ebstein's anomaly of left atrioventricular valve

      Code:

      (253496001)

      • Status:

        Excluded

        Name:

        Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart

        Code:

        (449086000)

    • Status:

      Excluded

      Name:

      Ebstein's anomaly of right atrioventricular valve

      Code:

      (253468007)

      • Status:

        Excluded

        Name:

        Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart

        Code:

        (449087009)

    • Status:

      Excluded

      Name:

      Ehlers-Danlos syndrome cardiac valvular type

      Code:

      (720858001)

    • Status:

      Excluded

      Name:

      Imperforate ventriculoarterial valve

      Code:

      (449029005)

      • Status:

        Excluded

        Name:

        Imperforate left ventriculoarterial valve

        Code:

        (449511008)

      • Status:

        Excluded

        Name:

        Imperforate right ventriculoarterial valve

        Code:

        (449512001)

    • Status:

      Excluded

      Name:

      Parachute malformation of right atrioventricular valve

      Code:

      (253479002)

    • Status:

      Excluded

      Name:

      Right atrioventricular valve hypoplasia

      Code:

      (253458002)

      • Status:

        Excluded

        Name:

        Hypoplasia of right atrioventricular valve annulus in double inlet ventricle

        Code:

        (449040002)

    • Status:

      Excluded

      Name:

      Short stature with valvular heart disease and characteristic facies syndrome

      Code:

      (716193004)

  • Status:

    Included

    Name:

    Congenital anomaly of myocardium

    Code:

    (204394002)

    • Status:

      Excluded

      Name:

      Absent mitral papillary muscle

      Code:

      (253411005)

    • Status:

      Included

      Name:

      Anomalous cardiac muscle bands

      Code:

      (109432004)

      • Status:

        Excluded

        Name:

        Anomalous muscle bands of left ventricle

        Code:

        (13453009)

        • Status:

          Excluded

          Name:

          Anomalous anterolateral muscle bands of left ventricle

          Code:

          (759731000000107)

        • Status:

          Excluded

          Name:

          Anomalous false tendon of muscle bands of left ventricle

          Code:

          (759741000000103)

        • Status:

          Excluded

          Name:

          Anomalous posteromedial muscle bands of left ventricle

          Code:

          (759751000000100)

      • Status:

        Excluded

        Name:

        Anomalous muscle bands of right ventricle

        Code:

        (88445007)

      • Status:

        Included

        Name:

        Anterolateral muscle band

        Code:

        (263944006)

      • Status:

        Included

        Name:

        Myocardial bridge of coronary artery

        Code:

        (424045003)

      • Status:

        Included

        Name:

        Posteromedial muscle band

        Code:

        (264162009)

      • Status:

        Included

        Name:

        Septoparietal trabeculations

        Code:

        (264571006)

    • Status:

      Excluded

      Name:

      Cardiomyopathy and renal anomaly syndrome

      Code:

      (720610008)

    • Status:

      Excluded

      Name:

      Congenital abnormality of mitral papillary muscle

      Code:

      (759521000000100)

    • Status:

      Excluded

      Name:

      Congenital abnormality of tricuspid papillary muscle

      Code:

      (448073002)

      • Status:

        Excluded

        Name:

        Absent tricuspid papillary muscle

        Code:

        (253392000)

      • Status:

        Excluded

        Name:

        Fused tricuspid papillary muscle

        Code:

        (253393005)

      • Status:

        Excluded

        Name:

        Hypoplastic tricuspid papillary muscle

        Code:

        (253394004)

      • Status:

        Excluded

        Name:

        Parachute malformation of tricuspid valve

        Code:

        (253391007)

    • Status:

      Excluded

      Name:

      Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome

      Code:

      (717812000)

    • Status:

      Excluded

      Name:

      Fused mitral papillary muscles

      Code:

      (253412003)

    • Status:

      Excluded

      Name:

      Heart-hand syndrome Slovenian type

      Code:

      (721014007)

    • Status:

      Excluded

      Name:

      Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

      Code:

      (718713000)

    • Status:

      Excluded

      Name:

      Hypoplasia of trabecular portion of left ventricle

      Code:

      (449353008)

      • Status:

        Excluded

        Name:

        Hypoplastic mitral papillary muscle

        Code:

        (253413008)

    • Status:

      Excluded

      Name:

      Hypoplasia of trabecular portion of right ventricle

      Code:

      (448966009)

      • Status:

        Excluded

        Name:

        Hypoplastic tricuspid papillary muscle

        Code:

        (253394004)

    • Status:

      Excluded

      Name:

      Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome

      Code:

      (715535009)

    • Status:

      Included

      Name:

      Uhl's disease

      Code:

      (2829000)

  • Status:

    Included

    Name:

    Congenital cardiomegaly

    Code:

    (48121000)

  • Status:

    Included

    Name:

    Congenital epicardial cyst

    Code:

    (204398004)

  • Status:

    Excluded

    Name:

    Congenital heart defect with round face and developmental delay syndrome

    Code:

    (715987000)

  • Status:

    Included

    Name:

    Congenital heart disease in pregnancy

    Code:

    (237227006)

  • Status:

    Included

    Name:

    Congenital heart disease, septal and bulbar anomalies

    Code:

    (253264007)

  • Status:

    Excluded

    Name:

    Congenital hypoplasia of heart

    Code:

    (93262004)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of aortic valve

      Code:

      (93237004)

      • Status:

        Included

        Name:

        Aortic valve ring hypoplasia

        Code:

        (253601007)

      • Status:

        Included

        Name:

        Hypoplasia of aortic valve cusp

        Code:

        (253607006)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of cardiac vein

      Code:

      (72252007)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of cardiac ventricle

      Code:

      (93247001)

    • Status:

      Excluded

      Name:

      Congenital hypoplasia of mitral valve

      Code:

      (93271008)

      • Status:

        Excluded

        Name:

        Hypoplasia of mitral valve annulus

        Code:

        (449270002)

      • Status:

        Excluded

        Name:

        Hypoplastic mitral papillary muscle

        Code:

        (253413008)

    • Status:

      Excluded

      Name:

      Deficient mural leaflet of left ventricular component of common atrioventricular valve

      Code:

      (840469002)

    • Status:

      Excluded

      Name:

      Hypoplasia of infundibular septum

      Code:

      (448923002)

    • Status:

      Excluded

      Name:

      Hypoplasia of left atrioventricular valve annulus in double inlet ventricle

      Code:

      (449228007)

    • Status:

      Excluded

      Name:

      Hypoplasia of right heart

      Code:

      (39589002)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of pulmonary valve

        Code:

        (93287006)

        • Status:

          Included

          Name:

          Pulmonary valve cusp hypoplasia

          Code:

          (253585006)

          • Status:

            Excluded

            Name:

            Hypoplasia of pulmonary cusps of absent pulmonary valve type

            Code:

            (449354002)

        • Status:

          Excluded

          Name:

          Pulmonary valve ring hypoplasia

          Code:

          (253586007)

      • Status:

        Excluded

        Name:

        Congenital hypoplasia of tricuspid valve

        Code:

        (43176009)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

        • Status:

          Included

          Name:

          Tricuspid annulus hypoplasia

          Code:

          (253376005)

      • Status:

        Excluded

        Name:

        Diffuse hypoplasia of right ventricle

        Code:

        (253518001)

      • Status:

        Included

        Name:

        Hypoplasia of right ventricular inflow tract

        Code:

        (253519009)

      • Status:

        Excluded

        Name:

        Hypoplasia of right ventricular outflow tract

        Code:

        (253520003)

        • Status:

          Excluded

          Name:

          Hypoplasia of right ventricular outflow tract and trabecular area

          Code:

          (253521004)

      • Status:

        Excluded

        Name:

        Hypoplasia of trabecular portion of right ventricle

        Code:

        (448966009)

        • Status:

          Excluded

          Name:

          Hypoplastic tricuspid papillary muscle

          Code:

          (253394004)

      • Status:

        Excluded

        Name:

        Isolated right ventricular hypoplasia

        Code:

        (718135001)

      • Status:

        Included

        Name:

        Right atrial hypoplasia

        Code:

        (253349005)

      • Status:

        Included

        Name:

        Right hypoplastic heart syndrome

        Code:

        (268180007)

      • Status:

        Excluded

        Name:

        Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle

        Code:

        (446659000)

    • Status:

      Included

      Name:

      Hypoplastic left heart syndrome

      Code:

      (62067003)

    • Status:

      Included

      Name:

      Left atrial hypoplasia

      Code:

      (253360001)

    • Status:

      Included

      Name:

      Left ventricular hypoplasia

      Code:

      (253536001)

      • Status:

        Excluded

        Name:

        Diffuse hypoplasia of left ventricle

        Code:

        (253537005)

      • Status:

        Excluded

        Name:

        Hypoplasia of left heart without intrinsic valve stenosis and without atresia

        Code:

        (447669002)

      • Status:

        Excluded

        Name:

        Hypoplasia of left ventricular inflow tract

        Code:

        (253538000)

      • Status:

        Included

        Name:

        Hypoplasia of left ventricular outflow tract

        Code:

        (253539008)

        • Status:

          Included

          Name:

          Hypoplasia of left ventricular outflow tract and trabecular area

          Code:

          (253540005)

      • Status:

        Excluded

        Name:

        Hypoplasia of trabecular portion of left ventricle

        Code:

        (449353008)

        • Status:

          Excluded

          Name:

          Hypoplastic mitral papillary muscle

          Code:

          (253413008)

      • Status:

        Excluded

        Name:

        Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle

        Code:

        (447286000)

    • Status:

      Excluded

      Name:

      Right atrioventricular valve hypoplasia

      Code:

      (253458002)

      • Status:

        Excluded

        Name:

        Hypoplasia of right atrioventricular valve annulus in double inlet ventricle

        Code:

        (449040002)

  • Status:

    Included

    Name:

    Congenital malposition of cardiac apex

    Code:

    (51789008)

    • Status:

      Excluded

      Name:

      Apex of heart anterior to cardiac base

      Code:

      (445268004)

    • Status:

      Excluded

      Name:

      Apex of heart posterior to cardiac base

      Code:

      (445435009)

    • Status:

      Excluded

      Name:

      Midline apex of heart

      Code:

      (446909006)

      • Status:

        Excluded

        Name:

        Midline anterior apex of heart

        Code:

        (448357002)

      • Status:

        Excluded

        Name:

        Midline posterior apex of heart

        Code:

        (448277007)

  • Status:

    Included

    Name:

    Congenital malposition of heart

    Code:

    (10818008)

    • Status:

      Included

      Name:

      Abdominal heart

      Code:

      (14886009)

    • Status:

      Included

      Name:

      Congenital dextroposition of heart

      Code:

      (341751000000103)

    • Status:

      Excluded

      Name:

      Congenital malrotation of heart

      Code:

      (123659003)

      • Status:

        Excluded

        Name:

        Congenital levorotation of heart

        Code:

        (781159007)

      • Status:

        Included

        Name:

        Dextrorotation of heart

        Code:

        (123660008)

    • Status:

      Included

      Name:

      Dextrocardia

      Code:

      (27637000)

      • Status:

        Included

        Name:

        Isolated dextrocardia

        Code:

        (74034002)

      • Status:

        Included

        Name:

        Kartagener syndrome

        Code:

        (42402006)

      • Status:

        Included

        Name:

        Mirror-imaged heart

        Code:

        (253271002)

    • Status:

      Included

      Name:

      Mesocardia

      Code:

      (16567006)

  • Status:

    Excluded

    Name:

    Congenital rhabdomyoma of heart

    Code:

    (64862009)

  • Status:

    Excluded

    Name:

    Congenital sacral meningocele with conotruncal heart defect syndrome

    Code:

    (726083008)

  • Status:

    Excluded

    Name:

    Cranio-cerebello-cardiac dysplasia syndrome

    Code:

    (718556007)

  • Status:

    Included

    Name:

    Criss-cross heart

    Code:

    (253269002)

    • Status:

      Excluded

      Name:

      Criss-cross heart with leftward rotation

      Code:

      (447289007)

    • Status:

      Excluded

      Name:

      Criss-cross heart with rightward rotation

      Code:

      (446657003)

  • Status:

    Included

    Name:

    Cyanotic congenital heart disease

    Code:

    (12770006)

  • Status:

    Included

    Name:

    Ectopia cordis

    Code:

    (78250005)

  • Status:

    Included

    Name:

    Eisenmenger's complex

    Code:

    (204311009)

  • Status:

    Included

    Name:

    Endocardial cushion defect

    Code:

    (15459006)

    • Status:

      Excluded

      Name:

      Atrial septal defect with endocardial cushion defect, partial type

      Code:

      (60732002)

    • Status:

      Excluded

      Name:

      Atrioventricular septal defect with additional muscular ventricular septal defect

      Code:

      (445334007)

    • Status:

      Included

      Name:

      Common atrioventricular canal

      Code:

      (360481003)

      • Status:

        Included

        Name:

        Atrioventricular septal defect - isolated atrial component

        Code:

        (253373002)

  • Status:

    Excluded

    Name:

    Facial dysmorphism, conductive hearing loss, heart defect syndrome

    Code:

    (763279007)

  • Status:

    Excluded

    Name:

    Faciocardiorenal syndrome

    Code:

    (723333000)

  • Status:

    Included

    Name:

    False tendon - heart

    Code:

    (264467005)

  • Status:

    Excluded

    Name:

    Fatal congenital nonlysosomal heart glycogenosis

    Code:

    (459062008)

  • Status:

    Excluded

    Name:

    Genitopalatocardiac syndrome

    Code:

    (773749003)

  • Status:

    Excluded

    Name:

    Heart defect and limb shortening syndrome

    Code:

    (721009008)

  • Status:

    Excluded

    Name:

    Heart defect, tongue hamartoma, polysyndactyly syndrome

    Code:

    (783738002)

  • Status:

    Excluded

    Name:

    Heart-hand syndrome type 2

    Code:

    (721010003)

  • Status:

    Excluded

    Name:

    Heart-hand syndrome type 3

    Code:

    (721013001)

  • Status:

    Included

    Name:

    Hemicardia

    Code:

    (204399007)

  • Status:

    Included

    Name:

    Holt-Oram syndrome

    Code:

    (19092004)

  • Status:

    Excluded

    Name:

    Hydrocephalus with endocardial fibroelastosis and cataract syndrome

    Code:

    (721015008)

  • Status:

    Excluded

    Name:

    Hydrocephalus, cardiac malformation, dense bone syndrome

    Code:

    (717859007)

  • Status:

    Included

    Name:

    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth

    Code:

    (412787009)

  • Status:

    Excluded

    Name:

    Jervell and Lange-Nielsen syndrome

    Code:

    (373905003)

  • Status:

    Excluded

    Name:

    Kallman syndrome with heart disease

    Code:

    (722027009)

  • Status:

    Excluded

    Name:

    Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type

    Code:

    (763778003)

  • Status:

    Excluded

    Name:

    Lethal faciocardiomelic dysplasia

    Code:

    (719400000)

  • Status:

    Excluded

    Name:

    Lung agenesis with heart defect and thumb anomaly syndrome

    Code:

    (721976003)

  • Status:

    Excluded

    Name:

    Malaligned outlet septum

    Code:

    (264086008)

    • Status:

      Excluded

      Name:

      Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim

      Code:

      (871636005)

    • Status:

      Excluded

      Name:

      Ventricular septal defect with malaligned outlet septum

      Code:

      (448062009)

      • Status:

        Excluded

        Name:

        Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum

        Code:

        (871609008)

      • Status:

        Excluded

        Name:

        Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and anteriorly malaligned outlet septum

        Code:

        (871607005)

      • Status:

        Excluded

        Name:

        Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum

        Code:

        (871604003)

      • Status:

        Excluded

        Name:

        Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum

        Code:

        (871611004)

      • Status:

        Excluded

        Name:

        Outlet ventricular septal defect with anteriorly malaligned outlet septum

        Code:

        (871606001)

      • Status:

        Excluded

        Name:

        Outlet ventricular septal defect with posteriorly malaligned outlet septum

        Code:

        (871600007)

      • Status:

        Excluded

        Name:

        Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum

        Code:

        (871602004)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve

        Code:

        (447698003)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447670001)

      • Status:

        Included

        Name:

        Ventricular septal defect with malaligned outlet septum to left

        Code:

        (253559007)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with malaligned outlet septum to right

        Code:

        (253556000)

      • Status:

        Excluded

        Name:

        Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve

        Code:

        (447672009)

  • Status:

    Excluded

    Name:

    Meacham syndrome

    Code:

    (722461004)

  • Status:

    Excluded

    Name:

    Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

    Code:

    (719395001)

  • Status:

    Excluded

    Name:

    Microcephalus with cardiac defect and lung malsegmentation syndrome

    Code:

    (719379001)

  • Status:

    Excluded

    Name:

    Microcephaly, seizure, intellectual disability, heart disease syndrome

    Code:

    (723304001)

  • Status:

    Excluded

    Name:

    Multiple congenital cardiac defects

    Code:

    (94702005)

    • Status:

      Excluded

      Name:

      Multiple intracardiac shunts

      Code:

      (94703000)

  • Status:

    Excluded

    Name:

    Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome

    Code:

    (722051004)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 11

    Code:

    (718681002)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 12

    Code:

    (763834000)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 13

    Code:

    (763835004)

  • Status:

    Excluded

    Name:

    Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome

    Code:

    (722206009)

  • Status:

    Excluded

    Name:

    Partial defect of atrioventricular canal

    Code:

    (718216009)

  • Status:

    Excluded

    Name:

    Pericarditis secondary to Mulibrey nanism

    Code:

    (31080005)

  • Status:

    Excluded

    Name:

    Polysyndactyly and cardiac malformation syndrome

    Code:

    (724066002)

  • Status:

    Excluded

    Name:

    Potter sequence cleft lip and palate cardiopathy syndrome

    Code:

    (716740009)

  • Status:

    Excluded

    Name:

    Primary endocardial fibroelastosis

    Code:

    (8239009)

    • Status:

      Included

      Name:

      Primary left ventricular endocardial fibroelastosis

      Code:

      (253543007)

    • Status:

      Included

      Name:

      Primary right ventricular endocardial fibroelastosis

      Code:

      (253523001)

  • Status:

    Excluded

    Name:

    Short stature with webbed neck and congenital heart disease syndrome

    Code:

    (721073008)

  • Status:

    Excluded

    Name:

    Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct

    Code:

    (448305002)

  • Status:

    Excluded

    Name:

    Verloove Vanhorick Brubakk syndrome

    Code:

    (764697003)

  • Status:

    Excluded

    Name:

    Williams syndrome

    Code:

    (63247009)

• Status:

  Included

  Name:

  Congenital hypothyroidism with ectopic thyroid

  Code:

  (215677009)

• Status:

  Included

  Name:

  Congenital iodine deficiency syndrome

  Code:

  (217710005)

  • Status:

    Included

    Name:

    Congenital hypothyroidism with diffuse goiter

    Code:

    (278503003)

  • Status:

    Included

    Name:

    Congenital hypothyroidism without goiter

    Code:

    (237515009)

    • Status:

      Excluded

      Name:

      Congenital malposition of the thyroid gland

      Code:

      (93359004)

  • Status:

    Included

    Name:

    Endemic cretinism

    Code:

    (75065003)

    • Status:

      Included

      Name:

      Congenital iodine deficiency syndrome - mixed type

      Code:

      (237565000)

    • Status:

      Included

      Name:

      Congenital iodine deficiency syndrome - neurological type

      Code:

      (237566004)

    • Status:

      Excluded

      Name:

      Endemic congenital iodine deficiency syndrome of myxedematous type

      Code:

      (440092001)

  • Status:

    Excluded

    Name:

    Myxedematous form of cretinism

    Code:

    (64491003)

  • Status:

    Excluded

    Name:

    Sporadic cretinism

    Code:

    (84781002)

• Status:

  Included

  Name:

  Congenital malposition of subclavian artery

  Code:

  (93353003)

  • Status:

    Included

    Name:

    Retroesophageal subclavian artery

    Code:

    (95237001)

    • Status:

      Included

      Name:

      Aberrant retroesophageal subclavian artery causing dysphagia lusoria

      Code:

      (311808009)

• Status:

  Included

  Name:

  Congenital nephrotic syndrome

  Code:

  (48796009)

  • Status:

    Included

    Name:

    Familial mesangial sclerosis

    Code:

    (236383002)

  • Status:

    Included

    Name:

    Finnish congenital nephrotic syndrome

    Code:

    (197601003)

• Status:

  Included

  Name:

  Congenital splenomegaly

  Code:

  (36752001)

  • Status:

    Included

    Name:

    Congenital syphilitic splenomegaly

    Code:

    (56118002)

  • Status:

    Excluded

    Name:

    Thrombocythemia with distal limb defect

    Code:

    (771511005)

• Status:

  Included

  Name:

  Congenital thyroid hypoplasia

  Code:

  (237516005)

• Status:

  Included

  Name:

  Constitutional aplastic anemia

  Code:

  (28975000)

  • Status:

    Included

    Name:

    Constitutional aplastic anemia with malformation

    Code:

    (267524009)

  • Status:

    Excluded

    Name:

    Fanconi's anemia

    Code:

    (30575002)

    • Status:

      Excluded

      Name:

      Estren-Dameshek anemia

      Code:

      (46760003)

  • Status:

    Excluded

    Name:

    Hereditary isolated aplastic anemia

    Code:

    (783255002)

  • Status:

    Excluded

    Name:

    Pancytopenia with developmental delay syndrome

    Code:

    (774071007)

  • Status:

    Excluded

    Name:

    Revesz syndrome

    Code:

    (723512008)

  • Status:

    Excluded

    Name:

    WT limb blood syndrome

    Code:

    (719019000)

• Status:

  Included

  Name:

  De Lange syndrome

  Code:

  (40354009)

• Status:

  Included

  Name:

  Diffuse Lewy body disease

  Code:

  (80098002)

  • Status:

    Excluded

    Name:

    Diffuse Lewy body disease with spongiform cortical change

    Code:

    (42769004)

  • Status:

    Excluded

    Name:

    Lewy body dementia with behavioral disturbance

    Code:

    (135811000119107)

  • Status:

    Included

    Name:

    Senile dementia of the Lewy body type

    Code:

    (312991009)

• Status:

  Included

  Name:

  Drash syndrome

  Code:

  (236385009)

• Status:

  Included

  Name:

  Dubowitz's syndrome

  Code:

  (2593002)

• Status:

  Included

  Name:

  Ductus venosus abnormality

  Code:

  (253329001)

  • Status:

    Excluded

    Name:

    Absent ductus venosus

    Code:

    (448635000)

    • Status:

      Excluded

      Name:

      Absent ductus venosus with direct connection of umbilical vein to inferior vena cava

      Code:

      (449527001)

    • Status:

      Excluded

      Name:

      Absent ductus venosus with direct connection of umbilical vein to renal vein

      Code:

      (449486006)

    • Status:

      Excluded

      Name:

      Absent ductus venosus with direct connection of umbilical vein to right atrium

      Code:

      (449439007)

  • Status:

    Excluded

    Name:

    Closed ductus venosus

    Code:

    (253331005)

  • Status:

    Included

    Name:

    Patent ductus venosus

    Code:

    (253330006)

• Status:

  Included

  Name:

  Huntington's chorea

  Code:

  (58756001)

  • Status:

    Excluded

    Name:

    Akinetic-rigid form of Huntington's disease

    Code:

    (230301006)

  • Status:

    Excluded

    Name:

    Juvenile onset Huntington's disease

    Code:

    (230299004)

  • Status:

    Excluded

    Name:

    Late onset Huntington's disease

    Code:

    (230300007)

• Status:

  Included

  Name:

  Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities

  Code:

  (237616002)

• Status:

  Included

  Name:

  Intellectual disability

  Code:

  (110359009)

  • Status:

    Excluded

    Name:

    11p15.4 microduplication syndrome

    Code:

    (770794008)

  • Status:

    Excluded

    Name:

    12q14 microdeletion syndrome

    Code:

    (719046005)

  • Status:

    Excluded

    Name:

    13q12.3 microdeletion syndrome

    Code:

    (773547003)

  • Status:

    Excluded

    Name:

    14q24.1q24.3 microdeletion syndrome

    Code:

    (773494008)

  • Status:

    Excluded

    Name:

    14q32 deletion syndrome

    Code:

    (879939002)

  • Status:

    Excluded

    Name:

    15q overgrowth syndrome

    Code:

    (771477003)

  • Status:

    Excluded

    Name:

    17q11.2 microduplication syndrome

    Code:

    (719583002)

  • Status:

    Excluded

    Name:

    19q13.11 microdeletion syndrome

    Code:

    (719599008)

  • Status:

    Excluded

    Name:

    1p21.3 microdeletion syndrome

    Code:

    (719600006)

  • Status:

    Excluded

    Name:

    21q22.11q22.12 microdeletion syndrome

    Code:

    (787171006)

  • Status:

    Excluded

    Name:

    2p13.2 microdeletion syndrome

    Code:

    (770756008)

  • Status:

    Excluded

    Name:

    3q27.3 microdeletion syndrome

    Code:

    (770719004)

  • Status:

    Excluded

    Name:

    5-amino-4-imidazole carboxamide ribosiduria

    Code:

    (725289009)

  • Status:

    Excluded

    Name:

    5p13 microduplication syndrome

    Code:

    (770793002)

  • Status:

    Excluded

    Name:

    9q31.1q31.3 microdeletion syndrome

    Code:

    (773493002)

  • Status:

    Excluded

    Name:

    AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome

    Code:

    (774068004)

  • Status:

    Excluded

    Name:

    Achalasia microcephaly syndrome

    Code:

    (718573009)

  • Status:

    Excluded

    Name:

    Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder

    Code:

    (766824003)

  • Status:

    Excluded

    Name:

    Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

    Code:

    (722281001)

  • Status:

    Excluded

    Name:

    Agenesis of corpus callosum and abnormal genitalia syndrome

    Code:

    (763797003)

  • Status:

    Excluded

    Name:

    Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

    Code:

    (722282008)

  • Status:

    Excluded

    Name:

    Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome

    Code:

    (733072002)

  • Status:

    Excluded

    Name:

    Alopecia and intellectual disability syndrome

    Code:

    (716191002)

  • Status:

    Excluded

    Name:

    Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

    Code:

    (720981000)

  • Status:

    Excluded

    Name:

    Alopecia, contracture, dwarfism, intellectual disability syndrome

    Code:

    (720979002)

  • Status:

    Excluded

    Name:

    Alopecia, epilepsy, intellectual disability syndrome Moynahan type

    Code:

    (788417006)

  • Status:

    Excluded

    Name:

    Alopecia, progressive neurological defect, endocrinopathy syndrome

    Code:

    (770941005)

  • Status:

    Excluded

    Name:

    Alpha-thalassemia intellectual disability syndrome linked to chromosome 16

    Code:

    (734349003)

  • Status:

    Excluded

    Name:

    Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome

    Code:

    (720982007)

  • Status:

    Included

    Name:

    Angelman syndrome

    Code:

    (76880004)

  • Status:

    Excluded

    Name:

    Aniridia and intellectual disability syndrome

    Code:

    (720468000)

  • Status:

    Excluded

    Name:

    Aniridia, renal agenesis, psychomotor retardation syndrome

    Code:

    (733116005)

  • Status:

    Excluded

    Name:

    Ankyrin 3 related intellectual disability, sleep disturbance syndrome

    Code:

    (787175002)

  • Status:

    Excluded

    Name:

    Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

    Code:

    (763615003)

  • Status:

    Excluded

    Name:

    Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome

    Code:

    (773583007)

  • Status:

    Excluded

    Name:

    Arachnodactyly and intellectual disability with facial dysmorphism syndrome

    Code:

    (720502000)

  • Status:

    Excluded

    Name:

    Arachnodactyly with abnormal ossification and intellectual disability syndrome

    Code:

    (720501007)

  • Status:

    Excluded

    Name:

    Ataxia with deafness and intellectual disability syndrome

    Code:

    (720517001)

  • Status:

    Excluded

    Name:

    Ataxia, photosensitivity, short stature syndrome

    Code:

    (773769008)

  • Status:

    Excluded

    Name:

    Atypical hypotonia cystinuria syndrome

    Code:

    (778025006)

  • Status:

    Excluded

    Name:

    Aural atresia with multiple congenital anomalies and intellectual disability syndrome

    Code:

    (720748007)

  • Status:

    Excluded

    Name:

    Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

    Code:

    (771448004)

  • Status:

    Excluded

    Name:

    Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency

    Code:

    (771512003)

  • Status:

    Excluded

    Name:

    Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency

    Code:

    (773498006)

  • Status:

    Excluded

    Name:

    Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

    Code:

    (770898002)

  • Status:

    Excluded

    Name:

    Autosomal recessive chorioretinopathy and microcephaly syndrome

    Code:

    (770404004)

  • Status:

    Excluded

    Name:

    Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome

    Code:

    (770901001)

  • Status:

    Excluded

    Name:

    Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

    Code:

    (771476007)

  • Status:

    Included

    Name:

    Bardet-Biedl syndrome

    Code:

    (5619004)

  • Status:

    Excluded

    Name:

    Biemond syndrome type 2

    Code:

    (717887003)

  • Status:

    Excluded

    Name:

    Blepharonasofacial malformation syndrome

    Code:

    (717913006)

  • Status:

    Excluded

    Name:

    Blepharophimosis and mental retardation syndrome

    Code:

    (788584007)

    • Status:

      Excluded

      Name:

      Blepharophimosis, intellectual disability syndrome, Verloes type

      Code:

      (778009001)

    • Status:

      Excluded

      Name:

      Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type

      Code:

      (699297004)

    • Status:

      Excluded

      Name:

      Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type

      Code:

      (699298009)

    • Status:

      Included

      Name:

      Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth

      Code:

      (412787009)

  • Status:

    Excluded

    Name:

    Borderline intellectual disability

    Code:

    (77287004)

  • Status:

    Included

    Name:

    Borjeson-Forssman-Lehmann syndrome

    Code:

    (21634003)

  • Status:

    Excluded

    Name:

    Brachydactyly and preaxial hallux varus syndrome

    Code:

    (732957009)

  • Status:

    Excluded

    Name:

    Brachydactyly, mesomelia, intellectual disability, heart defect syndrome

    Code:

    (765761009)

  • Status:

    Excluded

    Name:

    Brachymorphism with onychodysplasia and dysphalangism syndrome

    Code:

    (720573009)

  • Status:

    Excluded

    Name:

    Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome

    Code:

    (717945001)

  • Status:

    Excluded

    Name:

    Branchial dysplasia, intellectual disability, inguinal hernia syndrome

    Code:

    (732961003)

  • Status:

    Excluded

    Name:

    Branchioskeletogenital syndrome

    Code:

    (719097002)

  • Status:

    Excluded

    Name:

    Bullous dystrophy macular type

    Code:

    (725589005)

  • Status:

    Excluded

    Name:

    CK syndrome

    Code:

    (773329005)

  • Status:

    Excluded

    Name:

    Calcium/calmodulin-dependent serine protein kinase related intellectual disability

    Code:

    (703389002)

  • Status:

    Excluded

    Name:

    Carpenter Waziri syndrome

    Code:

    (719101006)

  • Status:

    Excluded

    Name:

    Caudal appendage deafness syndrome

    Code:

    (726621009)

  • Status:

    Excluded

    Name:

    Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

    Code:

    (726669007)

  • Status:

    Excluded

    Name:

    Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

    Code:

    (763344007)

  • Status:

    Excluded

    Name:

    Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome

    Code:

    (726031001)

  • Status:

    Excluded

    Name:

    Cerebro-facio-thoracic dysplasia

    Code:

    (720635002)

  • Status:

    Excluded

    Name:

    Cerebrofacioarticular syndrome

    Code:

    (763353000)

  • Status:

    Excluded

    Name:

    Cerebrooculonasal syndrome

    Code:

    (720855003)

  • Status:

    Excluded

    Name:

    Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome

    Code:

    (763136000)

  • Status:

    Excluded

    Name:

    Chromosome Xp11.3 microdeletion syndrome

    Code:

    (719808002)

  • Status:

    Excluded

    Name:

    Chromosome Xq28 trisomy syndrome

    Code:

    (719909009)

    • Status:

      Included

      Name:

      Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome

      Code:

      (702816000)

  • Status:

    Excluded

    Name:

    Chudley Lowry Hoar syndrome

    Code:

    (717763008)

  • Status:

    Excluded

    Name:

    Cleft palate with short stature and vertebral anomaly syndrome

    Code:

    (719466009)

  • Status:

    Included

    Name:

    Coffin-Siris syndrome

    Code:

    (10007009)

  • Status:

    Excluded

    Name:

    Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome

    Code:

    (764455002)

  • Status:

    Excluded

    Name:

    Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome

    Code:

    (720639008)

  • Status:

    Excluded

    Name:

    Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

    Code:

    (776204008)

  • Status:

    Excluded

    Name:

    Congenital cataract with ataxia and deafness syndrome

    Code:

    (719102004)

  • Status:

    Excluded

    Name:

    Congenital cataract with deafness and hypogonadism syndrome

    Code:

    (722378009)

  • Status:

    Excluded

    Name:

    Congenital cataract with hypertrichosis and intellectual disability syndrome

    Code:

    (722379001)

  • Status:

    Excluded

    Name:

    Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

    Code:

    (715989002)

  • Status:

    Excluded

    Name:

    Congenital hypoplasia of ulna and intellectual disability syndrome

    Code:

    (719842006)

  • Status:

    Excluded

    Name:

    Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

    Code:

    (782757004)

  • Status:

    Excluded

    Name:

    Congenital muscular dystrophy with intellectual disability

    Code:

    (783174004)

  • Status:

    Excluded

    Name:

    Congenital muscular dystrophy with intellectual disability and severe epilepsy

    Code:

    (782772000)

  • Status:

    Excluded

    Name:

    Contracture with ectodermal dysplasia and orofacial cleft syndrome

    Code:

    (720746006)

  • Status:

    Excluded

    Name:

    Cortical blindness, intellectual disability, polydactyly syndrome

    Code:

    (732251003)

  • Status:

    Excluded

    Name:

    Craniodigital syndrome and intellectual disability syndrome

    Code:

    (763665007)

  • Status:

    Excluded

    Name:

    Craniofacial digital and genital anomalies syndrome

    Code:

    (716089008)

  • Status:

    Excluded

    Name:

    Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome

    Code:

    (719947004)

  • Status:

    Excluded

    Name:

    Craniofaciofrontodigital syndrome

    Code:

    (763320005)

  • Status:

    Excluded

    Name:

    Cross syndrome

    Code:

    (17827007)

  • Status:

    Excluded

    Name:

    Cryptorchidism, arachnodactyly, intellectual disability syndrome

    Code:

    (764950001)

  • Status:

    Excluded

    Name:

    Cutis laxa-corneal clouding-oligophrenia syndrome

    Code:

    (59252009)

  • Status:

    Excluded

    Name:

    Cyclin-dependent kinase-like 5 deficiency

    Code:

    (773230003)

  • Status:

    Excluded

    Name:

    Cystic fibrosis with gastritis and megaloblastic anemia syndrome

    Code:

    (720401009)

  • Status:

    Excluded

    Name:

    Cystic leukoencephalopathy without megalencephaly

    Code:

    (720825005)

  • Status:

    Excluded

    Name:

    Deafness and intellectual disability Martin Probst type syndrome

    Code:

    (721087008)

  • Status:

    Excluded

    Name:

    Deafness with onychodystrophy syndrome

    Code:

    (773735007)

    • Status:

      Excluded

      Name:

      Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome

      Code:

      (719800009)

  • Status:

    Excluded

    Name:

    Deafness with skeletal dysplasia and lip granuloma syndrome

    Code:

    (720957007)

  • Status:

    Excluded

    Name:

    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

    Code:

    (721086004)

  • Status:

    Excluded

    Name:

    Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

    Code:

    (721089006)

  • Status:

    Excluded

    Name:

    Developmental and speech delay due to SRY-box 5 deficiency

    Code:

    (771472009)

  • Status:

    Excluded

    Name:

    Developmental delay with autism spectrum disorder and gait instability

    Code:

    (770790004)

  • Status:

    Excluded

    Name:

    Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency

    Code:

    (787093004)

  • Status:

    Excluded

    Name:

    Diabetes, hypogonadism, deafness, intellectual disability syndrome

    Code:

    (816067005)

  • Status:

    Excluded

    Name:

    Diencephalic mesencephalic junction dysplasia

    Code:

    (766871009)

  • Status:

    Excluded

    Name:

    Disorder of sex development with intellectual disability syndrome

    Code:

    (719450007)

  • Status:

    Excluded

    Name:

    Distal Xq28 microduplication syndrome

    Code:

    (773670004)

  • Status:

    Excluded

    Name:

    Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

    Code:

    (783619003)

  • Status:

    Excluded

    Name:

    Dysmorphism, short stature, deafness, disorder of sex development syndrome

    Code:

    (733050004)

  • Status:

    Excluded

    Name:

    Early onset parkinsonism and intellectual disability syndrome

    Code:

    (716107009)

  • Status:

    Excluded

    Name:

    Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation

    Code:

    (770431001)

  • Status:

    Excluded

    Name:

    Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome

    Code:

    (773548008)

  • Status:

    Excluded

    Name:

    Ectodermal dysplasia with blindness syndrome

    Code:

    (721208007)

  • Status:

    Excluded

    Name:

    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

    Code:

    (734017008)

  • Status:

    Excluded

    Name:

    Encephalopathy, intracerebral calcification, retinal degeneration syndrome

    Code:

    (733049004)

  • Status:

    Excluded

    Name:

    Epilepsy telangiectasia syndrome

    Code:

    (733032006)

  • Status:

    Excluded

    Name:

    Epilepsy, microcephaly, skeletal dysplasia syndrome

    Code:

    (733031004)

  • Status:

    Excluded

    Name:

    Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

    Code:

    (766870005)

  • Status:

    Excluded

    Name:

    Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

    Code:

    (771179007)

  • Status:

    Excluded

    Name:

    FRAXE intellectual disability syndrome

    Code:

    (716709002)

  • Status:

    Excluded

    Name:

    Facial dysmorphism, cleft palate, loose skin syndrome

    Code:

    (763278004)

  • Status:

    Excluded

    Name:

    Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

    Code:

    (783061008)

  • Status:

    Excluded

    Name:

    Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome

    Code:

    (733417008)

  • Status:

    Excluded

    Name:

    Faciocardiorenal syndrome

    Code:

    (723333000)

  • Status:

    Excluded

    Name:

    Fallot complex with intellectual disability and growth delay syndrome

    Code:

    (723336008)

  • Status:

    Excluded

    Name:

    Fatal X-linked ataxia with deafness and loss of vision

    Code:

    (702441001)

  • Status:

    Excluded

    Name:

    Female restricted epilepsy with intellectual disability syndrome

    Code:

    (716706009)

  • Status:

    Excluded

    Name:

    Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome

    Code:

    (774070008)

  • Status:

    Excluded

    Name:

    Filippi syndrome

    Code:

    (720954000)

  • Status:

    Excluded

    Name:

    Fine Lubinsky syndrome

    Code:

    (720955004)

  • Status:

    Excluded

    Name:

    Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome

    Code:

    (765089003)

  • Status:

    Excluded

    Name:

    Fragile X syndrome

    Code:

    (613003)

  • Status:

    Excluded

    Name:

    Fried syndrome

    Code:

    (718848000)

  • Status:

    Excluded

    Name:

    Gillespie syndrome

    Code:

    (253176002)

  • Status:

    Excluded

    Name:

    Goldberg Shprintzen megacolon syndrome

    Code:

    (717822006)

  • Status:

    Excluded

    Name:

    Goniodysgenesis with intellectual disability and short stature syndrome

    Code:

    (716024001)

  • Status:

    Excluded

    Name:

    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome

    Code:

    (721843003)

  • Status:

    Included

    Name:

    Grubben, De Cock, Borghgraef syndrome

    Code:

    (763186006)

  • Status:

    Excluded

    Name:

    Hair defect with photosensitivity and intellectual disability syndrome

    Code:

    (721007005)

  • Status:

    Excluded

    Name:

    Hall Riggs syndrome

    Code:

    (721008000)

  • Status:

    Excluded

    Name:

    Hennekam lymphangiectasia-lymphedema syndrome

    Code:

    (234146006)

  • Status:

    Excluded

    Name:

    Hepatic fibrosis, renal cyst, intellectual disability syndrome

    Code:

    (771149000)

  • Status:

    Excluded

    Name:

    Hereditary cryohydrocytosis with reduced stomatin

    Code:

    (782911008)

  • Status:

    Excluded

    Name:

    Holmes Gang syndrome

    Code:

    (721224008)

  • Status:

    Excluded

    Name:

    Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability

    Code:

    (765434008)

  • Status:

    Excluded

    Name:

    Hyperekplexia epilepsy syndrome

    Code:

    (785726009)

  • Status:

    Excluded

    Name:

    Hyperphosphatasemia with intellectual disability

    Code:

    (33982008)

  • Status:

    Excluded

    Name:

    Hypogonadism with mitral valve prolapse and intellectual disability syndrome

    Code:

    (721841001)

  • Status:

    Excluded

    Name:

    Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

    Code:

    (773553003)

  • Status:

    Excluded

    Name:

    Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome

    Code:

    (716996008)

    • Status:

      Excluded

      Name:

      Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome

      Code:

      (838441009)

    • Status:

      Excluded

      Name:

      X-linked complicated corpus callosum dysgenesis

      Code:

      (1010630006)

  • Status:

    Excluded

    Name:

    Hypospadias and intellectual disability syndrome Goldblatt type

    Code:

    (716096005)

  • Status:

    Excluded

    Name:

    Hypotonia, speech impairment, severe cognitive delay syndrome

    Code:

    (763722004)

  • Status:

    Excluded

    Name:

    Hypotrichosis and intellectual disability syndrome Lopes type

    Code:

    (723365002)

  • Status:

    Excluded

    Name:

    Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

    Code:

    (763404001)

  • Status:

    Excluded

    Name:

    Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome

    Code:

    (733097003)

  • Status:

    Excluded

    Name:

    Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

    Code:

    (770725000)

  • Status:

    Excluded

    Name:

    Infantile choroidocerebral calcification syndrome

    Code:

    (724228005)

  • Status:

    Excluded

    Name:

    Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome

    Code:

    (782886007)

  • Status:

    Excluded

    Name:

    Intellectual development disorder with impairment of behaviour

    Code:

    (1094031000000100)

  • Status:

    Excluded

    Name:

    Intellectual development disorder with minimal impairment of behaviour

    Code:

    (1094021000000102)

  • Status:

    Excluded

    Name:

    Intellectual development disorder with significant impairment of behaviour

    Code:

    (1094011000000108)

  • Status:

    Excluded

    Name:

    Intellectual development disorder without significant impairment of behaviour

    Code:

    (1094001000000106)

  • Status:

    Excluded

    Name:

    Intellectual disability Birk-Barel type

    Code:

    (764861005)

  • Status:

    Excluded

    Name:

    Intellectual disability Buenos Aires type

    Code:

    (725906006)

  • Status:

    Excluded

    Name:

    Intellectual disability Wolff type

    Code:

    (763745005)

  • Status:

    Excluded

    Name:

    Intellectual disability and short stature with hand contracture and genital anomaly syndrome

    Code:

    (716334004)

  • Status:

    Excluded

    Name:

    Intellectual disability due to nutritional deficiency

    Code:

    (763626009)

  • Status:

    Excluded

    Name:

    Intellectual disability with cataract and kyphosis syndrome

    Code:

    (722003007)

  • Status:

    Excluded

    Name:

    Intellectual disability with strabismus syndrome

    Code:

    (773405004)

  • Status:

    Excluded

    Name:

    Intellectual disability, alacrima, achalasia syndrome

    Code:

    (763741001)

  • Status:

    Excluded

    Name:

    Intellectual disability, balding, patella luxation, acromicria syndrome

    Code:

    (722002002)

  • Status:

    Excluded

    Name:

    Intellectual disability, brachydactyly, Pierre Robin syndrome

    Code:

    (763744009)

  • Status:

    Excluded

    Name:

    Intellectual disability, cataract, calcified pinna, myopathy syndrome

    Code:

    (726709001)

  • Status:

    Excluded

    Name:

    Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

    Code:

    (782753000)

  • Status:

    Excluded

    Name:

    Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome

    Code:

    (773581009)

  • Status:

    Excluded

    Name:

    Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

    Code:

    (722454003)

  • Status:

    Excluded

    Name:

    Intellectual disability, developmental delay, contracture syndrome

    Code:

    (722456001)

  • Status:

    Excluded

    Name:

    Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome

    Code:

    (722035007)

  • Status:

    Excluded

    Name:

    Intellectual disability, epilepsy, bulbous nose syndrome

    Code:

    (721146009)

  • Status:

    Excluded

    Name:

    Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome

    Code:

    (722037004)

  • Status:

    Excluded

    Name:

    Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency

    Code:

    (782736007)

  • Status:

    Excluded

    Name:

    Intellectual disability, facial dysmorphism, hand anomalies syndrome

    Code:

    (773416006)

  • Status:

    Excluded

    Name:

    Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome

    Code:

    (773552008)

  • Status:

    Excluded

    Name:

    Intellectual disability, hyperkinetic movement, truncal ataxia syndrome

    Code:

    (787174003)

  • Status:

    Excluded

    Name:

    Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome

    Code:

    (722455002)

  • Status:

    Excluded

    Name:

    Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome

    Code:

    (773621003)

  • Status:

    Excluded

    Name:

    Intellectual disability, myopathy, short stature, endocrine defect syndrome

    Code:

    (764959000)

  • Status:

    Excluded

    Name:

    Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome

    Code:

    (763350002)

  • Status:

    Excluded

    Name:

    Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome

    Code:

    (774102003)

  • Status:

    Excluded

    Name:

    Intellectual disability, polydactyly, uncombable hair syndrome

    Code:

    (763742008)

  • Status:

    Excluded

    Name:

    Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome

    Code:

    (770755007)

  • Status:

    Excluded

    Name:

    Intellectual disability, seizures, macrocephaly, obesity syndrome

    Code:

    (770750002)

  • Status:

    Excluded

    Name:

    Intellectual disability, severe speech delay, mild dysmorphism syndrome

    Code:

    (774203000)

  • Status:

    Excluded

    Name:

    Intellectual disability, short stature, hypertelorism syndrome

    Code:

    (771077007)

  • Status:

    Excluded

    Name:

    Intellectual disability, spasticity, ectrodactyly syndrome

    Code:

    (763743003)

  • Status:

    Excluded

    Name:

    Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome

    Code:

    (715628009)

  • Status:

    Excluded

    Name:

    Isodicentric chromosome 15 syndrome

    Code:

    (723332005)

  • Status:

    Excluded

    Name:

    Jawad syndrome

    Code:

    (771470001)

  • Status:

    Excluded

    Name:

    Juberg Marsidi syndrome

    Code:

    (721875000)

  • Status:

    Excluded

    Name:

    Kagami Ogata syndrome

    Code:

    (770907002)

  • Status:

    Excluded

    Name:

    Kapur Toriello syndrome

    Code:

    (722031003)

  • Status:

    Included

    Name:

    Kleefstra syndrome

    Code:

    (724207001)

  • Status:

    Included

    Name:

    Kohlschutter's syndrome

    Code:

    (109478007)

  • Status:

    Excluded

    Name:

    Laryngeal abductor paralysis with intellectual disability syndrome

    Code:

    (724178000)

  • Status:

    Excluded

    Name:

    Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome

    Code:

    (773692000)

  • Status:

    Included

    Name:

    Laurence-Moon syndrome

    Code:

    (232059000)

  • Status:

    Excluded

    Name:

    Lipodystrophy, intellectual disability, deafness syndrome

    Code:

    (721973006)

  • Status:

    Excluded

    Name:

    Lowe syndrome

    Code:

    (79385002)

  • Status:

    Excluded

    Name:

    Lowry MacLean syndrome

    Code:

    (721974000)

  • Status:

    Excluded

    Name:

    Macrocephaly and developmental delay syndrome

    Code:

    (763773007)

  • Status:

    Excluded

    Name:

    Macrocephaly, intellectual disability, autism syndrome

    Code:

    (783089006)

  • Status:

    Excluded

    Name:

    Macrocephaly, obesity, mental disability, ocular abnormality syndrome

    Code:

    (724137002)

  • Status:

    Excluded

    Name:

    Macrocephaly, short stature, paraplegia syndrome

    Code:

    (722033000)

  • Status:

    Excluded

    Name:

    Malan overgrowth syndrome

    Code:

    (763795006)

  • Status:

    Excluded

    Name:

    Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

    Code:

    (722459008)

  • Status:

    Excluded

    Name:

    Marfanoid habitus with autosomal recessive intellectual disability syndrome

    Code:

    (733062000)

  • Status:

    Excluded

    Name:

    McDonough syndrome

    Code:

    (715441004)

  • Status:

    Excluded

    Name:

    Megalocornea with intellectual disability syndrome

    Code:

    (733522005)

  • Status:

    Excluded

    Name:

    Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

    Code:

    (733419006)

  • Status:

    Excluded

    Name:

    Microbrachycephaly, ptosis, cleft lip syndrome

    Code:

    (723403008)

  • Status:

    Excluded

    Name:

    Microcephalic primordial dwarfism Alazami type

    Code:

    (770564004)

  • Status:

    Excluded

    Name:

    Microcephalic primordial dwarfism Dauber type

    Code:

    (770565003)

  • Status:

    Excluded

    Name:

    Microcephalic primordial dwarfism Montreal type

    Code:

    (765758008)

  • Status:

    Excluded

    Name:

    Microcephalus cardiomyopathy syndrome

    Code:

    (719380003)

  • Status:

    Excluded

    Name:

    Microcephalus with brachydactyly and kyphoscoliosis syndrome

    Code:

    (719378009)

  • Status:

    Excluded

    Name:

    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

    Code:

    (764732004)

  • Status:

    Excluded

    Name:

    Microcephalus, glomerulonephritis, marfanoid habitus syndrome

    Code:

    (733472005)

  • Status:

    Excluded

    Name:

    Microcephaly with deafness and intellectual disability syndrome

    Code:

    (716112005)

  • Status:

    Excluded

    Name:

    Microcephaly, seizure, intellectual disability, heart disease syndrome

    Code:

    (723304001)

  • Status:

    Excluded

    Name:

    Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome

    Code:

    (771074000)

  • Status:

    Excluded

    Name:

    Microcephaly, thin corpus callosum, intellectual disability syndrome

    Code:

    (770721009)

  • Status:

    Excluded

    Name:

    Microphthalmia with ankyloblepharon and intellectual disability syndrome

    Code:

    (717222003)

  • Status:

    Excluded

    Name:

    Mild intellectual development disorder with impairment of behaviour

    Code:

    (1093991000000101)

  • Status:

    Excluded

    Name:

    Mild intellectual development disorder with minimal impairment of behaviour

    Code:

    (1089851000000103)

  • Status:

    Excluded

    Name:

    Mild intellectual development disorder with significant impairment of behaviour

    Code:

    (1089841000000101)

  • Status:

    Excluded

    Name:

    Mild intellectual development disorder without significant impairment of behaviour

    Code:

    (1089831000000105)

  • Status:

    Included

    Name:

    Mild intellectual disability

    Code:

    (86765009)

    • Status:

      Excluded

      Name:

      Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome

      Code:

      (782755007)

  • Status:

    Excluded

    Name:

    Moderate intellectual development disorder with impairment of behaviour

    Code:

    (1089821000000108)

  • Status:

    Excluded

    Name:

    Moderate intellectual development disorder with minimal impairment of behaviour

    Code:

    (1089811000000102)

  • Status:

    Excluded

    Name:

    Moderate intellectual development disorder with significant impairment of behaviour

    Code:

    (1089791000000103)

  • Status:

    Excluded

    Name:

    Moderate intellectual development disorder without significant impairment of behaviour

    Code:

    (1089781000000100)

  • Status:

    Included

    Name:

    Moderate intellectual disability

    Code:

    (61152003)

  • Status:

    Included

    Name:

    Mowat-Wilson syndrome

    Code:

    (703535000)

    • Status:

      Excluded

      Name:

      Mowat-Wilson syndrome due to monosomy 2q22

      Code:

      (890118006)

  • Status:

    Excluded

    Name:

    Muscle eye brain disease with bilateral multicystic leukodystrophy

    Code:

    (785298001)

  • Status:

    Excluded

    Name:

    Myhre syndrome

    Code:

    (699316006)

  • Status:

    Excluded

    Name:

    Neurofaciodigitorenal syndrome

    Code:

    (725908007)

  • Status:

    Excluded

    Name:

    Nijmegen breakage syndrome-like disorder

    Code:

    (766753005)

  • Status:

    Excluded

    Name:

    Non-progressive cerebellar ataxia with intellectual disability

    Code:

    (723441001)

  • Status:

    Excluded

    Name:

    Oculocerebrofacial syndrome Kaufman type

    Code:

    (722056009)

  • Status:

    Excluded

    Name:

    Oculopalatocerebral syndrome

    Code:

    (722055008)

  • Status:

    Excluded

    Name:

    Okamoto syndrome

    Code:

    (722065002)

  • Status:

    Excluded

    Name:

    Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome

    Code:

    (782945001)

  • Status:

    Excluded

    Name:

    Optic atrophy, intellectual disability syndrome

    Code:

    (770723007)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 10

    Code:

    (722075004)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 11

    Code:

    (718681002)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 14

    Code:

    (763837007)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 5

    Code:

    (722105002)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 8

    Code:

    (722106001)

  • Status:

    Excluded

    Name:

    Oro-facial digital syndrome type 9

    Code:

    (718680001)

  • Status:

    Excluded

    Name:

    Ossification anomaly with psychomotor developmental delay syndrome

    Code:

    (722107005)

  • Status:

    Excluded

    Name:

    Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

    Code:

    (722110003)

  • Status:

    Excluded

    Name:

    Osteopenia, intellectual disability, sparse hair syndrome

    Code:

    (732954002)

  • Status:

    Excluded

    Name:

    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome

    Code:

    (722111004)

  • Status:

    Excluded

    Name:

    Pachygyria, intellectual disability, epilepsy syndrome

    Code:

    (763861000)

  • Status:

    Excluded

    Name:

    Pallister W syndrome

    Code:

    (719020006)

  • Status:

    Excluded

    Name:

    Phosphoribosylpyrophosphate synthetase superactivity

    Code:

    (723454008)

  • Status:

    Excluded

    Name:

    Piebald trait with neurologic defects syndrome

    Code:

    (773984007)

  • Status:

    Excluded

    Name:

    Pitt Hopkins-like syndrome

    Code:

    (773699009)

  • Status:

    Included

    Name:

    Pitt-Hopkins syndrome

    Code:

    (702344008)

  • Status:

    Excluded

    Name:

    Polymicrogyria with optic nerve hypoplasia

    Code:

    (771336003)

  • Status:

    Excluded

    Name:

    Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome

    Code:

    (770679002)

  • Status:

    Excluded

    Name:

    Postaxial polydactyly and intellectual disability syndrome

    Code:

    (721017000)

  • Status:

    Excluded

    Name:

    Preaxial polydactyly, colobomata, intellectual disability syndrome

    Code:

    (733088002)

  • Status:

    Excluded

    Name:

    Profound intellectual development disorder with impairment of behaviour

    Code:

    (1089731000000104)

  • Status:

    Excluded

    Name:

    Profound intellectual development disorder with minimal impairment of behaviour

    Code:

    (1089721000000101)

  • Status:

    Excluded

    Name:

    Profound intellectual development disorder with significant impairment of behaviour

    Code:

    (1089711000000107)

  • Status:

    Excluded

    Name:

    Profound intellectual development disorder without impairment of behaviour

    Code:

    (1089701000000105)

  • Status:

    Included

    Name:

    Profound intellectual disability

    Code:

    (31216003)

  • Status:

    Excluded

    Name:

    Progressive epilepsy-intellectual disability syndrome Finnish type

    Code:

    (703526007)

  • Status:

    Excluded

    Name:

    Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability

    Code:

    (768677000)

  • Status:

    Included

    Name:

    Prune belly syndrome with pulmonic stenosis, mental retardation and deafness

    Code:

    (236529001)

  • Status:

    Excluded

    Name:

    Pseudoleprechaunism syndrome Patterson type

    Code:

    (771262009)

  • Status:

    Excluded

    Name:

    Pseudoprogeria syndrome

    Code:

    (733086003)

  • Status:

    Excluded

    Name:

    Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

    Code:

    (724039002)

  • Status:

    Excluded

    Name:

    Purine rich element binding protein A syndrome

    Code:

    (768473009)

  • Status:

    Excluded

    Name:

    RAB18, member RAS oncogene family deficiency

    Code:

    (772225005)

    • Status:

      Excluded

      Name:

      Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

      Code:

      (722380003)

    • Status:

      Excluded

      Name:

      Warburg micro syndrome

      Code:

      (772224009)

  • Status:

    Excluded

    Name:

    Radioulnar synostosis with developmental delay and hypotonia syndrome

    Code:

    (721883006)

  • Status:

    Excluded

    Name:

    Radioulnar synostosis with microcephaly and scoliosis syndrome

    Code:

    (719162001)

  • Status:

    Excluded

    Name:

    Ramos Arroyo syndrome

    Code:

    (723504000)

  • Status:

    Excluded

    Name:

    Rare non-syndromic intellectual disability

    Code:

    (773772001)

  • Status:

    Excluded

    Name:

    Renier Gabreels Jasper syndrome

    Code:

    (723501008)

  • Status:

    Excluded

    Name:

    Renpenning syndrome

    Code:

    (699669001)

  • Status:

    Excluded

    Name:

    Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

    Code:

    (724001005)

  • Status:

    Included

    Name:

    Rett's disorder

    Code:

    (68618008)

  • Status:

    Excluded

    Name:

    Richieri Costa-da Silva syndrome

    Code:

    (782941005)

  • Status:

    Excluded

    Name:

    Roifman syndrome

    Code:

    (773404000)

  • Status:

    Excluded

    Name:

    Savant syndrome

    Code:

    (432091002)

  • Status:

    Excluded

    Name:

    Seckel syndrome

    Code:

    (57917004)

  • Status:

    Excluded

    Name:

    Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

    Code:

    (721207002)

  • Status:

    Excluded

    Name:

    Seizures and intellectual disability due to hydroxylysinuria syndrome

    Code:

    (723994004)

  • Status:

    Excluded

    Name:

    Severe X-linked intellectual disability Gustavson type

    Code:

    (722213009)

  • Status:

    Excluded

    Name:

    Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome

    Code:

    (773400009)

  • Status:

    Excluded

    Name:

    Severe intellectual development disorder with impairment of behaviour

    Code:

    (1089771000000102)

  • Status:

    Excluded

    Name:

    Severe intellectual development disorder with minimal impairment of behaviour

    Code:

    (1089761000000109)

  • Status:

    Excluded

    Name:

    Severe intellectual development disorder with significant impairment of behaviour

    Code:

    (1089751000000106)

  • Status:

    Excluded

    Name:

    Severe intellectual development disorder without significant impairment of behaviour

    Code:

    (1089741000000108)

  • Status:

    Included

    Name:

    Severe intellectual disability

    Code:

    (40700009)

    • Status:

      Excluded

      Name:

      Severe intellectual disability and progressive spastic paraplegia

      Code:

      (778011005)

    • Status:

      Excluded

      Name:

      Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome

      Code:

      (774149004)

    • Status:

      Excluded

      Name:

      Severe intellectual disability, progressive spastic diplegia syndrome

      Code:

      (782723007)

  • Status:

    Excluded

    Name:

    Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

    Code:

    (723676007)

  • Status:

    Excluded

    Name:

    Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome

    Code:

    (773551001)

  • Status:

    Excluded

    Name:

    Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome

    Code:

    (773419004)

  • Status:

    Excluded

    Name:

    Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome

    Code:

    (783005002)

  • Status:

    Excluded

    Name:

    Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome

    Code:

    (770751003)

  • Status:

    Excluded

    Name:

    Short stature with webbed neck and congenital heart disease syndrome

    Code:

    (721073008)

  • Status:

    Excluded

    Name:

    Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome

    Code:

    (726672000)

  • Status:

    Excluded

    Name:

    Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

    Code:

    (773556006)

  • Status:

    Excluded

    Name:

    Shprintzen Goldberg craniosynostosis syndrome

    Code:

    (719069008)

  • Status:

    Excluded

    Name:

    Significant intellectual disability

    Code:

    (1239331000000100)

  • Status:

    Excluded

    Name:

    Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome

    Code:

    (734173003)

  • Status:

    Excluded

    Name:

    Skeletal dysplasia with epilepsy and short stature syndrome

    Code:

    (715428003)

  • Status:

    Excluded

    Name:

    Skeletal dysplasia with intellectual disability syndrome

    Code:

    (722478008)

  • Status:

    Excluded

    Name:

    Smith Fineman Myers syndrome

    Code:

    (719212004)

  • Status:

    Excluded

    Name:

    Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy

    Code:

    (765170001)

  • Status:

    Excluded

    Name:

    Spastic paraplegia with precocious puberty syndrome

    Code:

    (732958004)

  • Status:

    Excluded

    Name:

    Spastic paraplegia, glaucoma, intellectual disability syndrome

    Code:

    (733455003)

  • Status:

    Excluded

    Name:

    Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

    Code:

    (722209002)

  • Status:

    Excluded

    Name:

    Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome

    Code:

    (723621000)

  • Status:

    Excluded

    Name:

    Spondylocostal dysostosis, hypospadias, intellectual disability syndrome

    Code:

    (773578004)

  • Status:

    Excluded

    Name:

    Spondyloepimetaphyseal dysplasia Genevieve type

    Code:

    (773303005)

  • Status:

    Excluded

    Name:

    Spondyloepiphyseal dysplasia tarda Kohn type

    Code:

    (719202006)

  • Status:

    Excluded

    Name:

    Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome

    Code:

    (718766002)

  • Status:

    Excluded

    Name:

    Synaptic Ras GTPase activating protein 1- related intellectual disability

    Code:

    (780827006)

  • Status:

    Excluded

    Name:

    Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation

    Code:

    (719161008)

  • Status:

    Excluded

    Name:

    Syndromic X-linked intellectual disability type 11

    Code:

    (718900002)

  • Status:

    Excluded

    Name:

    Syndromic X-linked intellectual disability type 7

    Code:

    (719160009)

  • Status:

    Excluded

    Name:

    THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome

    Code:

    (773554009)

  • Status:

    Excluded

    Name:

    Tall stature, intellectual disability, facial dysmorphism syndrome

    Code:

    (768843007)

  • Status:

    Excluded

    Name:

    Temple Baraitser syndrome

    Code:

    (725140007)

  • Status:

    Excluded

    Name:

    Temtamy preaxial brachydactyly syndrome

    Code:

    (777998000)

  • Status:

    Excluded

    Name:

    Thumb stiffness, brachydactyly, intellectual disability syndrome

    Code:

    (733117001)

  • Status:

    Excluded

    Name:

    Toriello Carey syndrome

    Code:

    (722477003)

  • Status:

    Excluded

    Name:

    Trigonocephaly C syndrome

    Code:

    (715409005)

  • Status:

    Excluded

    Name:

    Trisomy 10p

    Code:

    (717157006)

  • Status:

    Excluded

    Name:

    Uveal coloboma with cleft lip and palate and intellectual disability syndrome

    Code:

    (719042007)

  • Status:

    Excluded

    Name:

    Van den Bosch syndrome

    Code:

    (733110004)

  • Status:

    Excluded

    Name:

    Weaver Williams syndrome

    Code:

    (726670008)

  • Status:

    Excluded

    Name:

    White Sutton syndrome

    Code:

    (772127009)

  • Status:

    Excluded

    Name:

    White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

    Code:

    (783703004)

  • Status:

    Included

    Name:

    Wiedemann Steiner syndrome

    Code:

    (763618001)

  • Status:

    Excluded

    Name:

    Wilson Turner syndrome

    Code:

    (719834005)

  • Status:

    Excluded

    Name:

    Wolf Hirschhorn syndrome

    Code:

    (718226002)

  • Status:

    Excluded

    Name:

    X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome

    Code:

    (719139003)

  • Status:

    Excluded

    Name:

    X-linked cerebral, cerebellar, coloboma syndrome

    Code:

    (770604006)

  • Status:

    Excluded

    Name:

    X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome

    Code:

    (771148008)

  • Status:

    Excluded

    Name:

    X-linked intellectual deficit-dystonia-dysarthria syndrome

    Code:

    (702412005)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Abidi type

    Code:

    (719018008)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Armfield type

    Code:

    (719017003)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Atkin type

    Code:

    (718577005)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Brooks type

    Code:

    (725912001)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Cabezas type

    Code:

    (719811001)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Cantagrel type

    Code:

    (719016007)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Cilliers type

    Code:

    (719013004)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Hedera type

    Code:

    (726727003)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Miles Carpenter type

    Code:

    (719012009)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Nascimento type

    Code:

    (726732002)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Pai type

    Code:

    (719011002)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Schimke type

    Code:

    (719010001)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Seemanova type

    Code:

    (718897009)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Shrimpton type

    Code:

    (718905007)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Siderius type

    Code:

    (718908009)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Snyder type

    Code:

    (702416008)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Stevenson type

    Code:

    (718909001)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Stocco Dos Santos type

    Code:

    (718910006)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Stoll type

    Code:

    (718911005)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Turner type

    Code:

    (718912003)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Van Esch type

    Code:

    (718914002)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability Wilson type

    Code:

    (719009006)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome

    Code:

    (719155005)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome

    Code:

    (719157002)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations

    Code:

    (783702009)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with acromegaly and hyperactivity syndrome

    Code:

    (719826004)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with ataxia and apraxia syndrome

    Code:

    (718845002)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with cerebellar hypoplasia syndrome

    Code:

    (719136005)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with cubitus valgus and dysmorphism syndrome

    Code:

    (719138006)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

    Code:

    (719140001)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome

    Code:

    (719156006)

  • Status:

    Included

    Name:

    X-linked intellectual disability with marfanoid habitus

    Code:

    (422437002)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with plagiocephaly syndrome

    Code:

    (719812008)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability with seizure and psoriasis syndrome

    Code:

    (719810000)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome

    Code:

    (773587008)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability, craniofacioskeletal syndrome

    Code:

    (773274001)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome

    Code:

    (765471005)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome

    Code:

    (732246009)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability, macrocephaly, macroorchidism syndrome

    Code:

    (719825000)

  • Status:

    Excluded

    Name:

    X-linked intellectual disability-psychosis-macroorchidism syndrome

    Code:

    (702356009)

  • Status:

    Excluded

    Name:

    X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

    Code:

    (718896000)

  • Status:

    Excluded

    Name:

    X-linked spasticity, intellectual disability, epilepsy syndrome

    Code:

    (725163002)

  • Status:

    Excluded

    Name:

    Xylosyltransferase 1 congenital disorder of glycosylation

    Code:

    (773418007)

  • Status:

    Excluded

    Name:

    Zechi Ceide syndrome

    Code:

    (773307006)

• Status:

  Included

  Name:

  Isolation of subclavian artery

  Code:

  (253668003)

  • Status:

    Excluded

    Name:

    Isolation of left subclavian artery

    Code:

    (445350004)

  • Status:

    Excluded

    Name:

    Isolation of right subclavian artery

    Code:

    (445351000)

• Status:

  Included

  Name:

  Left ventricular outflow tract obstruction

  Code:

  (253546004)

  • Status:

    Excluded

    Name:

    Acquired obstruction of outflow tract of left ventricle

    Code:

    (880054006)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to aneurysm of membranous septum

    Code:

    (445453003)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to anterolateral muscle band

    Code:

    (445235006)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to atrioventricular valve

    Code:

    (445454009)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to diaphragm

    Code:

    (445310002)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to fibromuscular tunnel

    Code:

    (445131007)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to malaligned outlet septum

    Code:

    (445001003)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to neoplasm

    Code:

    (472787007)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to prolapse of Eustachian valve

    Code:

    (448823001)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to prolapsed arterial valve

    Code:

    (449118008)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to septal hypertrophy

    Code:

    (759761000000102)

  • Status:

    Excluded

    Name:

    Left ventricular outflow tract obstruction due to subpulmonary fibromuscular shelf

    Code:

    (445003000)

  • Status:

    Excluded

    Name:

    Obstruction of outflow tract of left ventricle following procedure

    Code:

    (880013003)

  • Status:

    Excluded

    Name:

    Progression of fetal left ventricular outflow tract obstruction

    Code:

    (470753008)

  • Status:

    Excluded

    Name:

    Subaortic left ventricular outflow tract obstruction

    Code:

    (759771000000109)

  • Status:

    Excluded

    Name:

    Subpulmonary left ventricular outflow tract obstruction

    Code:

    (759781000000106)

  • Status:

    Excluded

    Name:

    Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction

    Code:

    (871605002)

• Status:

  Included

  Name:

  Leprechaunism syndrome

  Code:

  (111307005)

• Status:

  Included

  Name:

  Malignant melanoma arising in congenital nevus

  Code:

  (254734009)

• Status:

  Included

  Name:

  Mauriac's syndrome

  Code:

  (80660001)

• Status:

  Included

  Name:

  Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

  Code:

  (237617006)

• Status:

  Included

  Name:

  Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency

  Code:

  (304576008)

• Status:

  Included

  Name:

  Mild learning disability

  Code:

  (984661000000105)

• Status:

  Included

  Name:

  Moderate learning disability

  Code:

  (984671000000103)

• Status:

  Included

  Name:

  Muscular dystrophy

  Code:

  (73297009)

  • Status:

    Included

    Name:

    Emery-Dreifuss muscular dystrophy

    Code:

    (111508004)

    • Status:

      Excluded

      Name:

      Autosomal dominant Emery-Dreifuss muscular dystrophy

      Code:

      (1010712009)

  • Status:

    Included

    Name:

    Erb's muscular dystrophy

    Code:

    (78468005)

  • Status:

    Included

    Name:

    Hereditary progressive muscular dystrophy

    Code:

    (193225000)

    • Status:

      Excluded

      Name:

      Autosomal dominant Emery-Dreifuss muscular dystrophy

      Code:

      (1010712009)

    • Status:

      Included

      Name:

      Congenital hereditary muscular dystrophy

      Code:

      (111501005)

      • Status:

        Included

        Name:

        Autosomal dominant muscular dystrophy not predominantly limb girdle

        Code:

        (240075007)

        • Status:

          Included

          Name:

          Benign congenital muscular dystrophy with finger flexion contractures

          Code:

          (240078009)

        • Status:

          Included

          Name:

          Benign scapuloperoneal muscular dystrophy

          Code:

          (240076008)

        • Status:

          Included

          Name:

          Facioscapulohumeral muscular dystrophy

          Code:

          (399091004)

        • Status:

          Included

          Name:

          Oculopharyngeal muscular dystrophy

          Code:

          (77097004)

      • Status:

        Included

        Name:

        Autosomal recessive muscular dystrophy not predominantly limb girdle

        Code:

        (240073000)

        • Status:

          Included

          Name:

          Scapulohumeral muscular dystrophy

          Code:

          (240074006)

      • Status:

        Included

        Name:

        Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

        Code:

        (240055003)

        • Status:

          Excluded

          Name:

          Fukuyama congenital muscular dystrophy

          Code:

          (111502003)

      • Status:

        Excluded

        Name:

        Autosomal recessive myogenic arthrogryposis multiplex congenita

        Code:

        (764812008)

      • Status:

        Included

        Name:

        Bethlem myopathy

        Code:

        (718572004)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy Paradas type

        Code:

        (725420009)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy due to lamin A/C mutation

        Code:

        (771272007)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy type 1A

        Code:

        (787037000)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy type 1B

        Code:

        (764944006)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation

        Code:

        (890368007)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy type 1D large gene mutation

        Code:

        (890395002)

      • Status:

        Included

        Name:

        Congenital muscular dystrophy with arthrogryposis multiplex congenita

        Code:

        (240061000)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy with cerebellar involvement

        Code:

        (783176002)

      • Status:

        Included

        Name:

        Congenital muscular dystrophy with hyperlaxity

        Code:

        (763314009)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

        Code:

        (715429006)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy with integrin alpha-7 deficiency

        Code:

        (771267003)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy with intellectual disability

        Code:

        (783174004)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy with intellectual disability and severe epilepsy

        Code:

        (782772000)

      • Status:

        Excluded

        Name:

        Congenital muscular dystrophy without intellectual disability

        Code:

        (783175003)

      • Status:

        Excluded

        Name:

        Congenital muscular hypertrophy-cerebral syndrome

        Code:

        (55016009)

      • Status:

        Excluded

        Name:

        Early onset myopathy with fatal cardiomyopathy

        Code:

        (702343002)

      • Status:

        Excluded

        Name:

        Eichsfeld type congenital muscular dystrophy

        Code:

        (240063002)

      • Status:

        Excluded

        Name:

        Epidermolysis bullosa simplex with muscular dystrophy

        Code:

        (723308003)

      • Status:

        Excluded

        Name:

        Hutterite type of muscular dystrophy

        Code:

        (240064008)

      • Status:

        Excluded

        Name:

        Merosin deficient congenital muscular dystrophy

        Code:

        (111503008)

      • Status:

        Excluded

        Name:

        Muscle eye brain disease with bilateral multicystic leukodystrophy

        Code:

        (785298001)

      • Status:

        Excluded

        Name:

        Muscle-eye-brain disease, congenital muscular dystrophy

        Code:

        (111505001)

      • Status:

        Excluded

        Name:

        Reunion-Indiana Amish type muscular dystrophy

        Code:

        (240058001)

      • Status:

        Included

        Name:

        Ullrich congenital muscular dystrophy

        Code:

        (240062007)

      • Status:

        Included

        Name:

        Walker-Warburg congenital muscular dystrophy

        Code:

        (111504002)

      • Status:

        Excluded

        Name:

        Western type of congenital muscular dystrophy

        Code:

        (240060004)

      • Status:

        Included

        Name:

        X-linked muscular dystrophy not predominantly limb girdle

        Code:

        (240071003)

        • Status:

          Included

          Name:

          Benign scapuloperoneal muscular dystrophy with cardiomyopathy

          Code:

          (240072005)

      • Status:

        Included

        Name:

        X-linked muscular dystrophy with limb girdle distribution

        Code:

        (240047005)

        • Status:

          Included

          Name:

          X-linked limb girdle muscular dystrophy with normal dystrophin

          Code:

          (240051007)

          • Status:

            Excluded

            Name:

            Hereditary myopathy limited to females

            Code:

            (240053005)

          • Status:

            Included

            Name:

            Ji muscular dystrophy

            Code:

            (240052000)

        • Status:

          Excluded

          Name:

          X-linked muscular dystrophy with abnormal dystrophin

          Code:

          (240048000)

          • Status:

            Included

            Name:

            Becker muscular dystrophy

            Code:

            (387732009)

          • Status:

            Included

            Name:

            Duchenne muscular dystrophy

            Code:

            (76670001)

          • Status:

            Excluded

            Name:

            Intermediate X-linked muscular dystrophy

            Code:

            (240049008)

          • Status:

            Included

            Name:

            Manifesting female carrier of X-linked muscular dystrophy

            Code:

            (240050008)

            • Status:

              Excluded

              Name:

              Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier

              Code:

              (765197008)

    • Status:

      Included

      Name:

      Distal muscular dystrophy

      Code:

      (58795000)

      • Status:

        Excluded

        Name:

        Adult-onset distal myopathy due to valosin containing protein mutation

        Code:

        (770792007)

      • Status:

        Included

        Name:

        Benign congenital muscular dystrophy with finger flexion contractures

        Code:

        (240078009)

      • Status:

        Excluded

        Name:

        Distal anoctaminopathy

        Code:

        (783166000)

      • Status:

        Included

        Name:

        Distal muscular dystrophy with juvenile onset

        Code:

        (193230001)

      • Status:

        Excluded

        Name:

        Distal muscular dystrophy, Miyoshi type

        Code:

        (111506000)

      • Status:

        Excluded

        Name:

        Distal myopathy 2

        Code:

        (702383005)

      • Status:

        Excluded

        Name:

        Distal myopathy Welander type

        Code:

        (726107008)

      • Status:

        Excluded

        Name:

        Distal myopathy with anterior tibial onset

        Code:

        (782675008)

      • Status:

        Excluded

        Name:

        Distal myopathy with posterior leg and anterior hand involvement

        Code:

        (733489002)

      • Status:

        Excluded

        Name:

        Distal nebulin myopathy

        Code:

        (783148005)

      • Status:

        Excluded

        Name:

        Finnish upper limb onset distal myopathy

        Code:

        (763718009)

      • Status:

        Excluded

        Name:

        Kelch like family member 9 related early-onset distal myopathy

        Code:

        (763776004)

      • Status:

        Excluded

        Name:

        Laing early-onset distal myopathy

        Code:

        (764859001)

      • Status:

        Excluded

        Name:

        Oculopharyngodistal myopathy

        Code:

        (763829004)

      • Status:

        Excluded

        Name:

        Tibial muscular dystrophy

        Code:

        (698846009)

    • Status:

      Included

      Name:

      Muscular dystrophy with predominantly proximal limb girdle distribution

      Code:

      (240046001)

      • Status:

        Included

        Name:

        Autosomal dominant muscular dystrophy with limb girdle distribution

        Code:

        (240067001)

        • Status:

          Excluded

          Name:

          Autosomal dominant limb girdle muscular dystrophy type 1A

          Code:

          (719985001)

        • Status:

          Excluded

          Name:

          Autosomal dominant limb girdle muscular dystrophy type 1D

          Code:

          (719987009)

        • Status:

          Excluded

          Name:

          Autosomal dominant limb girdle muscular dystrophy type 1E

          Code:

          (719988004)

        • Status:

          Excluded

          Name:

          Autosomal dominant limb girdle muscular dystrophy type 1F

          Code:

          (719989007)

        • Status:

          Excluded

          Name:

          Autosomal dominant limb girdle muscular dystrophy type 1G

          Code:

          (719990003)

        • Status:

          Excluded

          Name:

          Autosomal dominant limb-girdle muscular dystrophy type 1H

          Code:

          (771334000)

        • Status:

          Excluded

          Name:

          Autosomal dominant muscular dystrophy with gene located at 5q31

          Code:

          (240068006)

          • Status:

            Included

            Name:

            Late onset proximal muscular dystrophy with dysarthria

            Code:

            (240069003)

      • Status:

        Included

        Name:

        Autosomal recessive muscular dystrophy with limb girdle distribution

        Code:

        (240054004)

        • Status:

          Excluded

          Name:

          Adult onset autosomal recessive muscular dystrophy with normal dystrophin

          Code:

          (240065009)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2A

          Code:

          (715341003)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2B

          Code:

          (718179003)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2C

          Code:

          (718176005)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2D

          Code:

          (715340002)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2E

          Code:

          (718850008)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2F

          Code:

          (718177001)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2G

          Code:

          (720522001)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2I

          Code:

          (718180000)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2J

          Code:

          (725042001)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2K

          Code:

          (720523006)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2L

          Code:

          (726616006)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2M

          Code:

          (726618007)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2N

          Code:

          (726617002)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2O

          Code:

          (725043006)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2P

          Code:

          (726614009)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2Q

          Code:

          (726615005)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2S

          Code:

          (732929002)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2T

          Code:

          (732930007)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2U

          Code:

          (783554002)

        • Status:

          Excluded

          Name:

          Autosomal recessive limb girdle muscular dystrophy type 2Y

          Code:

          (725907002)

        • Status:

          Included

          Name:

          Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

          Code:

          (240055003)

          • Status:

            Excluded

            Name:

            Fukuyama congenital muscular dystrophy

            Code:

            (111502003)

        • Status:

          Excluded

          Name:

          Epidermolysis bullosa simplex with muscular dystrophy

          Code:

          (723308003)

        • Status:

          Excluded

          Name:

          Hutterite type of muscular dystrophy

          Code:

          (240064008)

        • Status:

          Excluded

          Name:

          Reunion-Indiana Amish type muscular dystrophy

          Code:

          (240058001)

      • Status:

        Included

        Name:

        X-linked muscular dystrophy with limb girdle distribution

        Code:

        (240047005)

        • Status:

          Included

          Name:

          X-linked limb girdle muscular dystrophy with normal dystrophin

          Code:

          (240051007)

          • Status:

            Excluded

            Name:

            Hereditary myopathy limited to females

            Code:

            (240053005)

          • Status:

            Included

            Name:

            Ji muscular dystrophy

            Code:

            (240052000)

        • Status:

          Excluded

          Name:

          X-linked muscular dystrophy with abnormal dystrophin

          Code:

          (240048000)

          • Status:

            Included

            Name:

            Becker muscular dystrophy

            Code:

            (387732009)

          • Status:

            Included

            Name:

            Duchenne muscular dystrophy

            Code:

            (76670001)

          • Status:

            Excluded

            Name:

            Intermediate X-linked muscular dystrophy

            Code:

            (240049008)

          • Status:

            Included

            Name:

            Manifesting female carrier of X-linked muscular dystrophy

            Code:

            (240050008)

            • Status:

              Excluded

              Name:

              Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier

              Code:

              (765197008)

    • Status:

      Included

      Name:

      Severe childhood autosomal recessive muscular dystrophy

      Code:

      (277373000)

    • Status:

      Excluded

      Name:

      X-linked scapuloperoneal muscular dystrophy

      Code:

      (784352007)

  • Status:

    Excluded

    Name:

    Menopausal muscular dystrophy syndrome

    Code:

    (129596006)

  • Status:

    Included

    Name:

    Muscular dystrophy not predominantly limb girdle in distribution

    Code:

    (240070002)

    • Status:

      Included

      Name:

      Autosomal dominant muscular dystrophy not predominantly limb girdle

      Code:

      (240075007)

      • Status:

        Included

        Name:

        Benign congenital muscular dystrophy with finger flexion contractures

        Code:

        (240078009)

      • Status:

        Included

        Name:

        Benign scapuloperoneal muscular dystrophy

        Code:

        (240076008)

      • Status:

        Included

        Name:

        Facioscapulohumeral muscular dystrophy

        Code:

        (399091004)

      • Status:

        Included

        Name:

        Oculopharyngeal muscular dystrophy

        Code:

        (77097004)

    • Status:

      Included

      Name:

      Autosomal recessive muscular dystrophy not predominantly limb girdle

      Code:

      (240073000)

      • Status:

        Included

        Name:

        Scapulohumeral muscular dystrophy

        Code:

        (240074006)

    • Status:

      Included

      Name:

      Distal muscular dystrophy

      Code:

      (58795000)

      • Status:

        Excluded

        Name:

        Adult-onset distal myopathy due to valosin containing protein mutation

        Code:

        (770792007)

      • Status:

        Included

        Name:

        Benign congenital muscular dystrophy with finger flexion contractures

        Code:

        (240078009)

      • Status:

        Excluded

        Name:

        Distal anoctaminopathy

        Code:

        (783166000)

      • Status:

        Included

        Name:

        Distal muscular dystrophy with juvenile onset

        Code:

        (193230001)

      • Status:

        Excluded

        Name:

        Distal muscular dystrophy, Miyoshi type

        Code:

        (111506000)

      • Status:

        Excluded

        Name:

        Distal myopathy 2

        Code:

        (702383005)

      • Status:

        Excluded

        Name:

        Distal myopathy Welander type

        Code:

        (726107008)

      • Status:

        Excluded

        Name:

        Distal myopathy with anterior tibial onset

        Code:

        (782675008)

      • Status:

        Excluded

        Name:

        Distal myopathy with posterior leg and anterior hand involvement

        Code:

        (733489002)

      • Status:

        Excluded

        Name:

        Distal nebulin myopathy

        Code:

        (783148005)

      • Status:

        Excluded

        Name:

        Finnish upper limb onset distal myopathy

        Code:

        (763718009)

      • Status:

        Excluded

        Name:

        Kelch like family member 9 related early-onset distal myopathy

        Code:

        (763776004)

      • Status:

        Excluded

        Name:

        Laing early-onset distal myopathy

        Code:

        (764859001)

      • Status:

        Excluded

        Name:

        Oculopharyngodistal myopathy

        Code:

        (763829004)

      • Status:

        Excluded

        Name:

        Tibial muscular dystrophy

        Code:

        (698846009)

    • Status:

      Included

      Name:

      X-linked muscular dystrophy not predominantly limb girdle

      Code:

      (240071003)

      • Status:

        Included

        Name:

        Benign scapuloperoneal muscular dystrophy with cardiomyopathy

        Code:

        (240072005)

  • Status:

    Excluded

    Name:

    Muscular dystrophy-deafmutism syndrome

    Code:

    (111500006)

  • Status:

    Included

    Name:

    Ocular muscular dystrophy

    Code:

    (67747009)

  • Status:

    Included

    Name:

    Pelvic muscular dystrophy

    Code:

    (193227008)

  • Status:

    Excluded

    Name:

    Scapuloperoneal muscular dystrophy

    Code:

    (129620000)

    • Status:

      Excluded

      Name:

      Severe scapuloperoneal muscular dystrophy with cardiomyopathy

      Code:

      (240077004)

    • Status:

      Excluded

      Name:

      X-linked scapuloperoneal muscular dystrophy

      Code:

      (784352007)

  • Status:

    Included

    Name:

    Steinert myotonic dystrophy syndrome

    Code:

    (77956009)

• Status:

  Included

  Name:

  Myotubular myopathy

  Code:

  (82077006)

  • Status:

    Excluded

    Name:

    Autosomal dominant centronuclear myopathy

    Code:

    (716696006)

  • Status:

    Excluded

    Name:

    Autosomal recessive centronuclear myopathy

    Code:

    (240081004)

  • Status:

    Excluded

    Name:

    Myotubular myopathy with type I atrophy

    Code:

    (15080006)

  • Status:

    Excluded

    Name:

    Severe x-linked myotubular myopathy

    Code:

    (46804001)

• Status:

  Included

  Name:

  Nemaline myopathy

  Code:

  (75072002)

  • Status:

    Excluded

    Name:

    Nemaline myopathy, early onset type

    Code:

    (129621001)

  • Status:

    Excluded

    Name:

    Nemaline myopathy, late onset type

    Code:

    (129622008)

• Status:

  Included

  Name:

  Noonan's syndrome

  Code:

  (205824006)

• Status:

  Included

  Name:

  Parkinson's disease

  Code:

  (49049000)

  • Status:

    Excluded

    Name:

    Autosomal dominant late onset Parkinson disease

    Code:

    (716662004)

  • Status:

    Included

    Name:

    Juvenile Parkinson's disease

    Code:

    (230291001)

  • Status:

    Excluded

    Name:

    Orthostatic hypotension co-occurrent and due to Parkinson's disease

    Code:

    (718685006)

  • Status:

    Excluded

    Name:

    Sporadic Parkinson disease

    Code:

    (724761004)

  • Status:

    Excluded

    Name:

    Young onset Parkinson disease

    Code:

    (715345007)

    • Status:

      Excluded

      Name:

      Atypical juvenile parkinsonism

      Code:

      (725146001)

    • Status:

      Excluded

      Name:

      Early onset parkinsonism and intellectual disability syndrome

      Code:

      (716107009)

• Status:

  Included

  Name:

  Partial trisomy 13 in Patau's syndrome

  Code:

  (254268004)

• Status:

  Included

  Name:

  Partial trisomy 21 in Down's syndrome

  Code:

  (254264002)

• Status:

  Included

  Name:

  Persistent left posterior cardinal vein

  Code:

  (38385001)

• Status:

  Included

  Name:

  Pervasive developmental disorder

  Code:

  (35919005)

  • Status:

    Excluded

    Name:

    Active but odd autism

    Code:

    (442314000)

  • Status:

    Included

    Name:

    Asperger's disorder

    Code:

    (23560001)

    • Status:

      Excluded

      Name:

      Residual Asperger's disorder

      Code:

      (708037001)

  • Status:

    Excluded

    Name:

    Atypical Rett syndrome

    Code:

    (718393002)

  • Status:

    Included

    Name:

    Atypical autism

    Code:

    (231536004)

  • Status:

    Included

    Name:

    Autistic disorder

    Code:

    (408856003)

    • Status:

      Excluded

      Name:

      1p21.3 microdeletion syndrome

      Code:

      (719600006)

    • Status:

      Excluded

      Name:

      Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder

      Code:

      (766824003)

    • Status:

      Excluded

      Name:

      Autism and facial port-wine stain syndrome

      Code:

      (722287002)

    • Status:

      Excluded

      Name:

      Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency

      Code:

      (771512003)

    • Status:

      Excluded

      Name:

      Autism spectrum disorder, epilepsy, arthrogryposis syndrome

      Code:

      (733623005)

    • Status:

      Included

      Name:

      Autistic disorder of childhood onset

      Code:

      (43614003)

      • Status:

        Excluded

        Name:

        Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

        Code:

        (771448004)

      • Status:

        Excluded

        Name:

        Developmental delay with autism spectrum disorder and gait instability

        Code:

        (770790004)

    • Status:

      Included

      Name:

      High-functioning autism

      Code:

      (702732007)

    • Status:

      Included

      Name:

      Infantile autism

      Code:

      (408857007)

      • Status:

        Included

        Name:

        Active infantile autism

        Code:

        (191689008)

      • Status:

        Included

        Name:

        Residual infantile autism

        Code:

        (191690004)

    • Status:

      Excluded

      Name:

      Macrocephaly, intellectual disability, autism syndrome

      Code:

      (783089006)

  • Status:

    Included

    Name:

    Autistic spectrum disorder with isolated skills

    Code:

    (373618009)

  • Status:

    Included

    Name:

    Childhood disintegrative disorder

    Code:

    (71961003)

    • Status:

      Included

      Name:

      Active disintegrative psychoses

      Code:

      (191692007)

    • Status:

      Included

      Name:

      Residual disintegrative psychoses

      Code:

      (191693002)

  • Status:

    Excluded

    Name:

    FOXG1 syndrome

    Code:

    (702450004)

  • Status:

    Excluded

    Name:

    Isodicentric chromosome 15 syndrome

    Code:

    (723332005)

  • Status:

    Included

    Name:

    Pathological demand avoidance

    Code:

    (712884004)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder of residual state

    Code:

    (39951000119105)

    • Status:

      Included

      Name:

      Residual disintegrative psychoses

      Code:

      (191693002)

    • Status:

      Included

      Name:

      Residual infantile autism

      Code:

      (191690004)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with abscence of functional language

    Code:

    (870307006)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language

    Code:

    (870308001)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with cognitive developmental delay and marked impairment of functional language

    Code:

    (870305003)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with complete impairment of functional language

    Code:

    (870306002)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills

    Code:

    (870303005)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with complete impairment of functional language without loss of previously acquired skills

    Code:

    (870304004)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills

    Code:

    (870269009)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language with loss of previously acquired skills

    Code:

    (870270005)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills

    Code:

    (870268001)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills

    Code:

    (870266002)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills

    Code:

    (870267006)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development and pervasive impairment of functional language without loss of previously acquired skills

    Code:

    (870264004)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development with loss of previously acquired skills

    Code:

    (870265003)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills

    Code:

    (870262000)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with impairment of functional language

    Code:

    (870263005)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with marked impairment of functional language with loss of previously acquired skills

    Code:

    (870260008)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with marked impairment of functional language without loss of previously acquired skills

    Code:

    (870261007)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills

    Code:

    (870280009)

  • Status:

    Excluded

    Name:

    Pervasive developmental disorder with severe impairment of functional language without loss of previously acquired skills

    Code:

    (870282001)

  • Status:

    Included

    Name:

    Rett's disorder

    Code:

    (68618008)

  • Status:

    Excluded

    Name:

    Savant syndrome

    Code:

    (432091002)

• Status:

  Included

  Name:

  Prader-Willi syndrome

  Code:

  (89392001)

• Status:

  Included

  Name:

  Profound learning disability

  Code:

  (984681000000101)

• Status:

  Included

  Name:

  Right ventricular outflow tract obstruction

  Code:

  (253530007)

  • Status:

    Excluded

    Name:

    Acquired obstruction of outflow tract of right ventricle

    Code:

    (880050002)

  • Status:

    Excluded

    Name:

    Dynamic right ventricular outflow tract obstruction

    Code:

    (370551009)

  • Status:

    Excluded

    Name:

    Obstruction of outflow tract of right ventricle following procedure

    Code:

    (880011001)

  • Status:

    Excluded

    Name:

    Obstruction of right ventricular outflow tract due to aortico-left ventricular tunnel

    Code:

    (448778001)

  • Status:

    Excluded

    Name:

    Progression of fetal right ventricular outflow tract obstruction

    Code:

    (470752003)

  • Status:

    Included

    Name:

    Right ventricular outflow obstruction - localized

    Code:

    (253531006)

  • Status:

    Included

    Name:

    Right ventricular outflow obstruction - tubular

    Code:

    (253532004)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to abnormal cardiac muscle bands

    Code:

    (449352003)

    • Status:

      Excluded

      Name:

      Right ventricular outflow tract obstruction due to septoparietal trabeculation

      Code:

      (449520004)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to aneurysm of membranous septum

    Code:

    (448001004)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to atrioventricular valve

    Code:

    (448633007)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to common atrioventricular valve

    Code:

    (448308000)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to fibromuscular shelf

    Code:

    (448309008)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to foreign body

    Code:

    (472786003)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to malaligned outlet septum

    Code:

    (448310003)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to neoplasm

    Code:

    (472785004)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to prolapse of Eustachian valve

    Code:

    (448082008)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to prolapsed arterial valve

    Code:

    (448083003)

  • Status:

    Excluded

    Name:

    Right ventricular outflow tract obstruction due to septal hypertrophy

    Code:

    (449138009)

  • Status:

    Excluded

    Name:

    Subaortic right ventricular outflow tract obstruction

    Code:

    (759861000000106)

  • Status:

    Excluded

    Name:

    Subpulmonary right ventricular outflow tract obstruction

    Code:

    (759851000000108)

• Status:

  Included

  Name:

  Secondary parkinsonism

  Code:

  (230292008)

  • Status:

    Excluded

    Name:

    1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced parkinsonism

    Code:

    (15782007)

  • Status:

    Excluded

    Name:

    Carbon monoxide-induced parkinsonism

    Code:

    (230293003)

  • Status:

    Excluded

    Name:

    Manganese-induced parkinsonism

    Code:

    (230294009)

  • Status:

    Excluded

    Name:

    Parkinsonism caused by carbon disulfide

    Code:

    (870295006)

  • Status:

    Excluded

    Name:

    Parkinsonism caused by cyanide

    Code:

    (766872002)

  • Status:

    Included

    Name:

    Parkinsonism caused by drug

    Code:

    (4223005)

    • Status:

      Excluded

      Name:

      Parkinsonism caused by neuroleptic drug

      Code:

      (72820004)

  • Status:

    Excluded

    Name:

    Parkinsonism caused by methanol

    Code:

    (870288002)

  • Status:

    Excluded

    Name:

    Parkinsonism co-occurrent and due to acute infection

    Code:

    (722556003)

  • Status:

    Excluded

    Name:

    Parkinsonism due to and following injury of head

    Code:

    (724762006)

  • Status:

    Excluded

    Name:

    Parkinsonism due to heredodegenerative disorder

    Code:

    (722965000)

    • Status:

      Excluded

      Name:

      Parkinsonian pyramidal syndrome

      Code:

      (783012006)

    • Status:

      Excluded

      Name:

      Parkinsonism due to hereditary spastic paraplegia

      Code:

      (722599008)

  • Status:

    Excluded

    Name:

    Parkinsonism due to human immunodeficiency virus infection

    Code:

    (722557007)

  • Status:

    Excluded

    Name:

    Parkinsonism following infection

    Code:

    (722558002)

  • Status:

    Excluded

    Name:

    Parkinsonism with calcification of basal ganglia

    Code:

    (230295005)

  • Status:

    Included

    Name:

    Postencephalitic parkinsonism

    Code:

    (19972008)

  • Status:

    Excluded

    Name:

    Syphilitic parkinsonism

    Code:

    (38523005)

  • Status:

    Included

    Name:

    Vascular parkinsonism

    Code:

    (230296006)

• Status:

  Included

  Name:

  Severe learning disability

  Code:

  (508171000000105)

• Status:

  Included

  Name:

  Shwachman syndrome

  Code:

  (89454001)

• Status:

  Included

  Name:

  Situs inversus with levocardia

  Code:

  (205769006)

• Status:

  Included

  Name:

  Smith-Magenis syndrome

  Code:

  (401315004)

• Status:

  Included

  Name:

  Specific learning disability

  Code:

  (889211000000104)

• Status:

  Included

  Name:

  Transient mitral regurgitation of newborn

  Code:

  (278928000)

• Status:

  Included

  Name:

  Transient tricuspid regurgitation of newborn

  Code:

  (276518005)

• Status:

  Included

  Name:

  Trisomy 21- mitotic nondisjunction mosaicism

  Code:

  (205616004)

• Status:

  Included

  Name:

  Trisomy 22

  Code:

  (205655003)

  • Status:

    Included

    Name:

    Mosaic trisomy 22 syndrome

    Code:

    (764625002)

  • Status:

    Included

    Name:

    Partial trisomy of chromosome 22

    Code:

    (726362005)

    • Status:

      Included

      Name:

      22q partial trisomy syndrome

      Code:

      (50992006)

      • Status:

        Included

        Name:

        22q11.2 duplication

        Code:

        (699311001)

      • Status:

        Included

        Name:

        Distal 22q11.2 microduplication syndrome

        Code:

        (764524005)

      • Status:

        Included

        Name:

        Distal trisomy 22q

        Code:

        (764512003)

• Status:

  Included

  Name:

  Young's syndrome

  Code:

  (233666007)