Congenital disease + all descendants

Coding system: SNOMED CT (UK Clinical Edition)
Coding system release: unknown
Author: Kate Mansfield
Codelist ID: user/kate-mansfield/congenital-disease-all-descendants
Version ID: 667fa0ee
Number of codes included: 9,430

Versions

Description

Congenital disease (66091009) and all descendants.

Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.

We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.

code	term
10007009	Coffin-Siris syndrome
10033001	Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
1003322006	Distal deletion of short arm of chromosome 3
1003324007	Congenital synostosis of bilateral tibias and fibulas
1003330007	Simple syndactyly of toes of first web space of bilateral feet
1003337005	Congenital split of bilateral feet
1003339008	Congenital split of bilateral hands
1003358004	Distal deletion of short arm of chromosome 8
1003364006	Distal deletion of chromosome 13
1003369001	Microphthalmos due to Delleman syndrome
1003370000	Microphthalmos due to Fryns syndrome
1003371001	Micromelic dwarfism Fryn type
1003372008	Microphthalmos due to branchio-oculo-facial syndrome
1003373003	Microcephaly with simplified gyral pattern
1003374009	Microlissencephaly
1003376006	Medial duplication of long arm of chromosome 9
1003377002	Medial duplication of short arm of chromosome 1
1003378007	Optic nerve hypoplasia due to endocrine deficiency
1003379004	Osteogenesis imperfecta type 5
1003380001	6q16 microdeletion syndrome
1003381002	Onycho-tricho-dysplasia neutropenia syndrome
1003384005	Multiple congenital defects of vertebral segmentation
1003388008	X-linked oligodontia
1003389000	Mosaic 1q duplication
1003390009	X-linked hypodontia
1003391008	Medial deletion of long arm of chromosome 4
1003392001	Medial deletion of long arm of chromosome 5
1003393006	Medial deletion of chromosome 14
1003394000	Medial deletion of long arm of chromosome 2
1003395004	Maternal uniparental disomy of chromosome 7
1003396003	Medial deletion of chromosome 13
1003397007	Congenital atresia of intestine at multiple levels
1003398002	Congenital anorectal fistula due to intermediate anorectal malformation
1003399005	Congenital anomaly of first branchial cleft
1003400003	Congenital gastric heterotopia of duodenum
1003402006	Maternal uniparental disomy of chromosome 15
1003403001	Maternal uniparental disomy of chromosome 11
1003405008	Maternal uniparental disomy of chromosome 14
1003406009	Congenital intermediate sized melanocytic nevus
1003408005	Congenital dystrophy of cornea
1003409002	Maternal 15q11q13 deletion
1003410007	Medial duplication of long arm of chromosome 5
1003411006	Medial duplication of long arm of chromosome 7
1003412004	Medial duplication of long arm of chromosome 2
1003413009	Medial duplication of long arm of chromosome 4
1003414003	Medial duplication of chromosome 14
1003415002	Medial duplication of long arm of chromosome 1
1003416001	Medial duplication of chromosome 13
1003417005	Medial deletion of short arm of chromosome 1
1003418000	Medial deletion of long arm of chromosome 1
1003419008	Medial deletion of long arm of chromosome 7
1003420002	Medial deletion of long arm of chromosome 9
1003421003	Intra-abdominal omphalomesenteric duct cyst
1003422005	Hypoplasia of optic nerve due to central nervous system malformation
1003424006	Hutterite type cataract
1003427004	Genochondromatosis type 1
1003429001	Focal cortical dysplasia type IIa
1003430006	Focal cortical dysplasia type IIb
1003431005	Mandibuloacral dysostosis co-occurrent with type A lipodystrophy
1003432003	Mandibuloacral dysostosis co-occurrent with type B lipodystrophy
1003433008	Malrotation of small intestine
1003434002	Lipoma due to neurospinal dysraphism
1003435001	Linear basal cell nevus
1003436000	Linear umbilical cord disruption
1003437009	Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
1003438004	Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
1003439007	Intra-abdominal vitelline remnant
1003440009	Laryngeal cleft type 0
1003442001	Synostosis of bilateral humerus radius and ulna
1003443006	Congenital stenosis of male external urethral orifice
1003444000	Type 3 lissencephaly
1003445004	Lumbosacral spina bifida aperta with hydrocephalus
1003446003	Synostosis of bilateral humerus and ulna
1003447007	Pelizaeus-Merzbacher disease null syndrome
1003448002	Lumbosacral spina bifida aperta
1003449005	Paternal 14q32.2 microdeletion
1003461002	Focal cortical dysplasia type II
1003462009	Focal cortical dysplasia type Ib
1003463004	Focal cortical dysplasia type I
1003464005	Focal cortical dysplasia type Ia
1003465006	Familial spinal neurofibromatosis
1003468008	Congenital teratoma of nasopharynx
1003505005	Agenesis of rib
1003507002	Agenesis of lobe of lung
1003509004	Agenesis of foot
1003510009	Agenesis of hand
1003512001	Agenesis of ovary
1003513006	Agenesis of femur
1003514000	Agenesis of liver
1003515004	Agenesis of tibia
1003516003	Agenesis of ilium
1003518002	Agenesis of pubis
1003519005	Agenesis of talus
1003520004	Agenesis of vomer
1003546000	Agenesis of fibula
1003547009	Agenesis of ureter
1003548004	Agenesis of testis
1003549007	Agenesis of radius
1003550007	Agenesis of thymus
1003551006	Agenesis of spleen
1003552004	Agenesis of bladder
1003553009	Agenesis of cilia of eyelid
1003554003	Agenesis of humerus
1003555002	Agenesis of trachea
1003556001	Agenesis of stomach
1003557005	Agenesis of ischium
1003558000	Agenesis of maxilla
1003559008	Agenesis of scapula
1003563001	Agenesis of vertebra
1003564007	Agenesis of clitoris
1003566009	Agenesis of mandible
1003567000	Agenesis of bile duct
1003568005	Agenesis of diaphragm
1003569002	Agenesis of esophagus
1003571002	Agenesis of calcaneus
1003573004	Agenesis of sternebra
1003574005	Agenesis of left hand
1003575006	Agenesis of epididymis
1003576007	Agenesis of hyoid bone
1003577003	Agenesis of nasal bone
1003578008	Agenesis of premaxilla
1003579000	Agenesis of right hand
1003581003	Agenesis of carpal bone
1003582005	Agenesis of tarsal bone
1003583000	Agenesis of bilateral testes
1003620005	Congenital clinodactyly of finger
1003621009	Congenital clinodactyly of little finger
1003644007	Agenesis of bilateral feet
1003657004	Congenital glaucoma of left eye
1003704006	Agenesis of metacarpal bone
1003841002	Remnant of vitelline vein
1003842009	Renal tubular dysgenesis caused by drug
1003844005	Remnant of vitelline artery
1003847003	Pyruvate dehydrogenase phosphatase deficiency
1003849000	Pyruvate dehydrogenase complex E2 subunit deficiency
1003850000	Pyruvate dehydrogenase complex E1-alpha subunit deficiency
1003851001	Pyruvate dehydrogenase complex E1 beta subunit deficiency
1003858007	Rhizomelic chondrodysplasia punctata type 3
1003860009	Rhizomelic chondrodysplasia punctata type 2
1003861008	Renal tubular dysgenesis due to twin to twin transfusion
1003862001	Rhizomelic chondrodysplasia punctata type 1
1003864000	Proximal duplication of long arm of chromosome 5
1003865004	Proximal duplication of long arm of chromosome 6
1003866003	Proximal duplication of long arm of chromosome 3
1003867007	Proximal duplication of long arm of chromosome 4
1003868002	Proximal duplication of long arm of chromosome 18
1003869005	Proximal duplication of long arm of chromosome 2
1003870006	Uniparental disomy of paternal origin of chromosome 4
1003871005	Uniparental disomy of paternal origin of chromosome 15
1003872003	Uniparental disomy of paternal origin of chromosome 14
1003873008	Uniparental disomy of paternal origin of chromosome 11
1003875001	Proximal duplication of long arm of chromosome 17
1003876000	Proximal duplication of long arm of chromosome 12
1003877009	Pfeiffer syndrome type 1
1003878004	Proximal duplication of long arm of chromosome 16
1003879007	Megalourethra of spongiose portion of urethra
1003880005	Proximal duplication of long arm of chromosome 10
1003881009	Pelizaeus-Merzbacher disease in female carrier
1003882002	Proximal duplication of long arm of chromosome 11
1003883007	Proximal duplication of short arm of chromosome 9
1003884001	Pulverulent cataract
1003885000	Proximal duplication of short arm of chromosome 7
1003886004	Proximal duplication of short arm of chromosome 8
1003887008	Proximal duplication of short arm of chromosome 3
1003888003	Proximal duplication of short arm of chromosome 6
1003889006	Proximal duplication of short arm of chromosome 2
1003890002	Proximal duplication of long arm of chromosome 9
1003891003	Proximal duplication of short arm of chromosome 1
1003892005	Proximal duplication of long arm of chromosome 7
1003893000	Proximal duplication of long arm of chromosome 8
1003894006	Proximal deletion of long arm of chromosome 8
1003895007	Proximal deletion of long arm of chromosome 9
1003896008	Proximal deletion of long arm of chromosome 6
1003897004	Proximal deletion of long arm of chromosome 7
1003898009	Proximal deletion of long arm of chromosome 5
1003899001	Proximal deletion of long arm of chromosome 3
1003900006	Proximal deletion of long arm of chromosome 4
1003901005	Proximal deletion of long arm of chromosome 18
1003902003	Proximal deletion of long arm of chromosome 2
1003903008	Proximal deletion of long arm of chromosome 16
1003904002	Proximal deletion of long arm of chromosome 17
1003905001	Proximal duplication of chromosome 21
1003906000	Proximal duplication of long arm of chromosome 1
1003907009	Proximal duplication of chromosome 14
1003908004	Proximal duplication of chromosome 15
1003909007	Proximal duplication of chromosome 13
1003910002	Proximal deletion of short arm of chromosome 8
1003911003	Proximal deletion of short arm of chromosome 9
1003912005	Proximal deletion of short arm of chromosome 6
1003913000	Proximal deletion of short arm of chromosome 7
1003914006	Proximal deletion of short arm of chromosome 1
1003915007	Proximal deletion of short arm of chromosome 3
1003916008	Pfeiffer syndrome type 2
1003917004	Secondary congenital hyperplasia of lung
1003918009	Pfeiffer syndrome type 3
1003920007	Sabinas brittle hair syndrome
1003921006	Sclerocornea of bilateral corneas
1003922004	Rothmund Thomson syndrome type 1
1003923009	Rothmund Thomson syndrome type 2
1003929008	Proximal deletion of long arm of chromosome 11
1003930003	Proximal deletion of long arm of chromosome 12
1003931004	Proximal deletion of long arm of chromosome 10
1003932006	Proximal deletion of chromosome 21
1003933001	Proximal deletion of long arm of chromosome 1
1003934007	Proximal deletion of chromosome 14
1003935008	Proximal deletion of chromosome 15
1003936009	Primary congenital hyperplasia of lung
1003937000	Proximal deletion of chromosome 13
1003939002	Polydactyly of bilateral index fingers
10078003	Turner's tooth
1010212005	Congenital dysplasia of left hip
1010213000	Congenital dysplasia of right hip
1010215007	Congenital subluxation of left hip joint
1010217004	Congenital subluxation of right hip joint
1010276004	Ring chromosome
1010464002	Agenesis of right hemisphere of cerebellum
1010465001	Agenesis of left hemisphere of cerebellum
1010568002	Undescended left testicle
1010569005	Undescended right testicle
1010604007	Ventriculomegaly due to developmental anomaly
1010606009	Waardenburg syndrome type 1
1010609002	Mesomelic dysplasia of upper limb
1010610007	Retinitis pigmentosa-deafness syndrome type 3
1010611006	Thoracoomphalopagus
1010613009	Tetrasomy 15q
1010614003	Tetrasomy 5p mosaicism
1010618000	Syndactyly of fingers of bilateral hands
1010628009	X-linked congenital generalized hypertrichosis
1010630006	X-linked complicated corpus callosum dysgenesis
1010636000	Waardenburg syndrome type 2
1010638004	Waardenburg syndrome type 3
1010639007	Anomaly of umbilical vein group I
1010641008	Anomaly of umbilical vein group II
1010643006	Thoracolumbosacral spina bifida aperta
1010644000	Spina bifida aperta of upper thoracic spine
1010645004	Single umbilical cord artery type III
1010646003	Single umbilical cord artery type IV
1010652002	Single umbilical cord artery type II
1010653007	Segmental neurofibromatosis type 1
1010655000	Single umbilical cord artery type I
1010657008	Secondary hypoplasia of bilateral lungs
1010663004	Subcortical nodular heterotopia
1010664005	Stickler syndrome type 2
1010665006	Helical ulceration of umbilical cord
1010666007	Stickler syndrome type 4
1010667003	Sternopagus
1010668008	Stickler syndrome type 1
1010678006	Anomaly of umbilical vein group III
1010680000	Anomaly of umbilical vein group IV
1010685005	Oculo-auriculo-vertebral spectrum
1010709006	Longitudinal deficiency of bilateral fibulae
10155006	Bilateral congenital dislocation of hip
10170007	Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
10177005	Triploidy, diploidy, mixoploidy syndrome
10283004	Congenital stenosis of cervical canal
10362008	Accessory spleen
10375008	Extrapulmonary subpleural pulmonary sequestration
104431000119107	Lipomyelomeningocele
10451007	Double aortic arch
1051005	Hyperplasia of islet alpha cells with gastrin excess
1052326006	Rachischisis partialis
10567003	Four X syndrome
10572007	13q partial trisomy syndrome
105985007	Osteochondrodysplasia syndrome
105986008	Congenital skeletal dysplasia
105989001	Malformation sequence
105992002	Congenital anomaly of tongue, salivary gland AND/OR pharynx
105994001	Regional congenital anomaly
10623005	Fibrous dysplasia of bone
10624871000119109	Congenital skin contracture
10631000	Trilobed left lung
10653003	Congenital mandibular hyperplasia
10736081000119101	Congenital atresia of vagina
10736711000119105	Congenital hypoplasia of uterine cervix
10738211000119102	Congenital fistula between uterus and urinary tract
10741005	Lipid storage disease
10759351000119103	Sickle cell anemia in mother complicating childbirth
10759401000119105	Sickle cell trait in mother complicating childbirth
1078151000119103	Congenital hallux valgus of left great toe
1078161000119101	Congenital hallux valgus of right great toe
1078251000119105	Congenital absence of right forearm and hand
1078261000119107	Congenital absence of right hand
1078361000119103	Congenital genu varum of left knee
1078371000119109	Congenital genu varum of right knee
1079651000119104	Congenital pigmented melanocytic nevus of skin of left upper limb
1079681000119106	Congenital pigmented melanocytic nevus of skin of left lower limb
1079691000119109	Congenital pigmented melanocytic nevus of skin of right upper limb
1079721000119100	Congenital pigmented melanocytic nevus of skin of right lower limb
10805641000119102	Congenital cardiovascular anomaly in mother complicating childbirth
10806241000119108	Thalassemia in mother complicating childbirth
10818008	Congenital malposition of heart
10835621000119104	Congenital anomaly of vagina in mother complicating pregnancy
10835661000119109	Doubling of uterus with doubling of cervix and vagina with obstruction
10835701000119102	Congenital anomaly of vulva in mother complicating pregnancy
1085291000119101	Uranostaphyloschisis with cleft lip
1085301000119100	Cleft of hard palate and cleft lip
1085331000119107	Cleft palate and bilateral cleft lip
1085341000119103	Cleft of soft palate and bilateral cleft lip
1085351000119101	Cleft of soft palate and cleft lip
1085651000119109	Congenital anal fissure
1085671000119100	Congenital malformation of larynx and trachea
1085681000119102	Congenital rectal fissure
1085711000119101	Congenital split ear lobe
10866001	Congenital pancreatic enterokinase deficiency
10883005	Gingival cyst of adult
1088611000119103	Congenital split left ear lobe
1091221000119100	Congenital split right ear lobe
10930001	Congenital atresia of pulmonary artery
109393007	Otomandibular dysostosis
109394001	Intermandibular dysostosis
109395000	Temporo-auro-mandibular dysostosis
109397008	Temporo-aural dysostosis
109398003	Maxillary dysostosis
109399006	Maxillo-zygomatic dysostosis
109400004	Naso-maxillary dysostosis
109402007	Anterior perimaxillary faciosynostosis
109403002	Complete perimaxillary faciosynostosis
109404008	Posterior perimaxillary faciosynostosis
109406005	Vomero-premaxillary faciosynostosis
109407001	Internasal dysostosis
109408006	Frontal dysostosis
109409003	Interfrontal craniofaciosynostosis
109410008	Fronto-frontal dysostosis
109411007	Fronto-naso-ethmoidal dysostosis
109413005	Fronto-malar faciosynostosis
109414004	Sphenoidal dysostosis
109415003	Spheno-frontal dysostosis
109416002	Spheno-fronto-parietal craniofaciosynostosis
109417006	Parieto-occipital craniosynostosis
109418001	Interparietal craniosynostosis
109419009	Mandibuloacral dysostosis
109420003	Dysostosis
109422006	Accessory cuboid bone
109423001	Accessory navicular bone of foot
109425008	Single right ventricle
109426009	Single left ventricle
109427000	Supracristal ventricular septal defect
109428005	Perimembranous ventricular septal defect
109429002	Single muscular ventricular septum defect
109430007	Multiple muscular ventricular septum defect
109431006	Ebstein-like malformation of mitral valve
109432004	Anomalous cardiac muscle bands
109434003	Congenital anomaly of oral mucosa
109436001	Moon's molar teeth
109438000	Exaggerated cingulum of tooth
109442002	Congenital absence of one tooth
109443007	Anodontia of primary dentition
109444001	Anodontia of permanent dentition
109447008	Familial hypodontia
109450006	Supernumerary tooth identifiable by tooth number
109451005	Supernumerary tooth unidentifiable by tooth number
109455001	Multiple supernumerary teeth unrelated to systemic condition
109458004	Duplication of teeth
109462005	Multirooted tooth with divergent roots
109463000	Multirooted tooth with convergent roots
109464006	Lateral accessory root canals
109470000	Intrinsic enamel discoloration of erythroblastosis fetalis
109471001	Amelogenesis imperfecta, hypocalcification type
109472008	Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
109473003	Amelogenesis imperfecta, hypoplastic type with microdontia
109474009	Amelogenesis imperfecta, pigmented hypomaturation type
109475005	Amelogenesis imperfecta, hypomaturation type
109476006	Amelogenesis imperfecta, hypoplastic type
109477002	Enamel-renal syndrome
109478007	Kohlschutter's syndrome
109492001	Dentin dysplasia
109493006	Dentin dysplasia, type I
109494000	Dentin dysplasia, type II
109513007	Congenital mandibular asymmetry
109514001	Congenital maxillary asymmetry
109515000	Congenital retrognathism
109517008	Congenital horizontal mandibular hyperplasia
109518003	Congenital vertical mandibular hyperplasia
109519006	Congenital transverse mandibular hyperplasia
109520000	Congenital alveolar hyperplasia of mandible
109521001	Congenital alveolar hyperplasia of maxilla
109523003	Congenital horizontal mandibular hypoplasia
109524009	Congenital vertical mandibular hypoplasia
109525005	Congenital transverse mandibular hypoplasia
109526006	Congenital alveolar hypoplasia of mandible
109527002	Congenital alveolar hypoplasia of maxilla
109528007	Congenital transverse maxillary hypoplasia
109529004	Congenital vertical maxillary hypoplasia
109532001	Precocious exfoliation related to ectopic eruption of proximate tooth
109545002	Hyperplastic tooth follicle
109546001	Cleft of primary palate
109548000	Bilateral cleft of primary palate
109549008	Congenital anomaly of lip
109550008	Congenital commissural pits
109551007	Aberrant insertion of labial frenulum
109552000	Buccal bifurcation cyst
109553005	Palatal cyst of newborn
109554004	Ectopic oral gastrointestinal cyst
109556002	Aberrant insertion of frenum of tongue
109557006	Congenital anomaly of uvula
109559009	Riedel's lobe of liver
109560004	Cystic testicular dysplasia
109561000	Cerebrofacial dysplasia
109608003	Residual cyst
109714003	Monostotic fibrous dysplasia of periradicular alveolar bone
110992006	Bifid nail
11102005	Congenital fistula of lip
111246005	Arthrogryposis
111303009	Sjögren-Larsson syndrome
111304003	Kozlowski spondylometaphyseal dysplasia
111306001	Multiple lentigines syndrome
111307005	Leprechaunism syndrome
111309008	8q partial trisomy syndrome
111310003	Ring chromosome 11 syndrome
111311004	20p partial trisomy syndrome
111312006	Anomaly of chromosome X
111315008	Longitudinal deficiency of tibia AND/OR fibula
111317000	Congenital absence of nose
111318005	Congenital cystic adenomatoid malformation of lung
111319002	Truncus arteriosus, Edwards' type IV
111321007	Right aortic arch
111322000	Congenital anomaly of pulmonary veins
111323005	Total anomalous pulmonary venous return
111324004	Congenital absence of breast
111325003	Horner's teeth
111327006	Congenital anomaly of salivary gland
111328001	Congenital diverticulum of pharynx
111329009	Congenital prolapsed rectum
111330004	Congenital rectovaginal fistula
111331000	Congenital dilatation of lobar intrahepatic bile duct
111332007	Male pseudohermaphroditism
111334008	Embryonic cyst of epoophoron
111335009	Congenital absence of vulva
111336005	Congenital lateral curvature of penis
111337001	Dyke-Davidoff-Masson syndrome
111338006	Agenesis of nerve
111339003	Congenital anomaly of ear with impairment of hearing
111341002	Cephalodiprosopus
111382002	Chemically-induced lipidosis
111383007	Dysmorphic sialidosis, juvenile form
111385000	Tay-Sachs disease
111388003	Cutis laxa, autosomal dominant
111389006	Dominant dystrophic epidermolysis bullosa
111396008	Chédiak-Higashi syndrome
11144004	Congenital stricture of osseous meatus of middle ear
111501005	Congenital hereditary muscular dystrophy
111502003	Fukuyama congenital muscular dystrophy
111503008	Merosin deficient congenital muscular dystrophy
111504002	Walker-Warburg congenital muscular dystrophy
111505001	Muscle-eye-brain disease, congenital muscular dystrophy
111567006	Refetoff syndrome
111571009	Congenital atransferrinemia
111572002	beta^0^ Thalassemia, nondeletion type
111584000	Reticular dysgenesis
111587007	Severe combined immunodeficiency due to absent interleukin-2 receptor
111589005	Dysfibrinogenemia
11160000	Brown oculocutaneous albinism
111631000119106	Congenital pyelectasia
111641000119102	Congenital choroid plexus cyst
11179002	Glycogen storage disease, type IV
1119390005	Cleft of right hard palate
1119391009	Cleft of left hard palate
1119392002	Complete cleft of right hard and soft palate
1119393007	Complete cleft of left hard and soft palate
11194003	Congenital anomaly of anus
11197005	Hydromyelia
11211000119108	Congenital anomaly of pupil
11223009	Congenital anomaly of pharynx
112751000119103	Congenital superior sulcus anomaly of orbit
112871000000108	Mid-facial hypoplasia
112871000119104	Congenital contracture of toe joint
1131009	Congenital valvular insufficiency
11378000	Persistent urogenital sinus
11380006	Mucopolysaccharidosis
1141000119101	Congenital labial adhesion
11433004	Congenital coronary artery fistula
1150009	Congenital microcheilia
11552008	Complete congenital duodenal obstruction
116133005	Congenital agammaglobulinemia
11614003	Congenital stenosis of pulmonary veins
11646003	Congenital inversion of nipple
11701009	Hemicephaly
11731003	Neck webbing
118642009	Congenital anomaly of the urinary tract proper
11873751000119106	Congenital pes cavus of bilateral feet
12011000119105	Congenital pes valgo planus
12017008	Congenital absence of ovary
12070002	Congenital stenosis of larynx
12075007	Congenital hypoplasia of ascending aorta
12104008	Congenital rectocloacal fistula
12121000119102	Congenital trigger finger and trigger thumb
12235641000119107	Congenital ptosis of bilateral upper eyelids
12235681000119102	Congenital ptosis of left upper eyelid
12235721000119108	Congenital ptosis of right upper eyelid
12235861000119107	Congenital pes cavus of left foot
12235901000119101	Congenital pes cavus of right foot
12235941000119104	Congenital deformity of left foot
12235981000119109	Congenital deformity of right foot
12236021000119104	Congenital deformity of left upper limb
12236061000119109	Congenital deformity of right upper limb
12246008	Acute neuronopathic Gaucher's disease
12252009	Congenital absence of sternum
12270007	Supernumerary roots
12275031000119106	Congenital cerebral ventriculomegaly
122811000119101	Partial androgen insensitivity syndrome
12316007	Persistent fetal uterus
1232006	Congenital articular rigidity with myopathy
12322003	Congenital eventration of left crus of diaphragm
123276005	Congenital anomaly of umbilical artery
123557007	Congenital anomaly of scapula
123558002	Congenital anomaly of humerus
123559005	Congenital anomaly of radius
123560000	Congenital anomaly of ulna
123561001	Congenital anomaly of femur
123562008	Congenital anomaly of fibula
123563003	Congenital anomaly of tibia
123566006	Congenital anomaly of calcaneus
123568007	Congenital anomaly of tarsal bone
123569004	Congenital anomaly of metatarsal bone
123570003	Congenital anomaly of carpal bone
123571004	Congenital anomaly of metacarpal bone
123572006	Congenital anomaly of rib
123644009	Gynandromorphism syndrome
123645005	Group chromosomal alteration
123646006	Chromosomal alterations of group A
123647002	Chromosomal alterations of group B
123648007	Chromosomal alterations of group C and X
123649004	Chromosomal alterations of group D
123650004	Chromosomal alterations of group E
123651000	Chromosomal alterations of group F
123652007	Chromosomal alterations of group G and Y
123654008	Congenital anomaly of lower respiratory system
123655009	Accessory structure of lower respiratory tract
123656005	Congenital atresia of cardiac valve
123657001	Congenital stenosis of cardiac valve
123658006	Congenital cleft of cardiac valve
123659003	Congenital malrotation of heart
123660008	Dextrorotation of heart
123661007	Levoatrial cardinal vein
123662000	Persistent dorsal mesentery
123665003	Uterus bicornis unicollis with septate vagina
123666002	Rudimentary uterus in male
123772008	Homozygous hemoglobinopathy
123773003	Heterozygous hemoglobinopathy
1239002	Congenital anteversion of femur
1239371000000103	Haemoglobin E beta zero thalassaemia
1239381000000101	Haemoglobin E beta plus thalassaemia
124115002	Deficiency of L-lactate dehydrogenase
124116001	Deficiency of D-lactate dehydrogenase
124141008	Deficiency of L-lactate dehydrogenase (cytochrome)
124166007	Deficiency of butyryl-CoA dehydrogenase
124184009	Deficiency of cytochrome-b>5< reductase
124185005	Deficiency of reduced nicotinamide adenine dinucleotide phosphate-ferrihemoprotein reductase
124186006	Deficiency of NAPH cytochrome-c>2< reductase
124214007	Deficiency of steroid 11-beta-monooxygenase
124220008	Deficiency of steroid 17-alpha-monooxygenase
124239003	Deficiency of guanidinoacetate methyltransferase
124257002	Deficiency of carnitine acetyltransferase
12427005	Congenital primary adrenocortical hypofunction
12458006	Congenital macrognathism
124594007	Deficiency of malonyl-coenzyme A decarboxylase
124611007	Deficiency of hydroxymethylglutaryl-CoA lyase
124621004	Deficiency of enoyl-coenzyme A hydratase
124628005	Deficiency of histidine ammonia-lyase
124680001	Deficiency of methylmalonyl-coenzyme A mutase
12501008	von Willebrand disease, type IIF
125491000119103	Fetus with Turner syndrome
125501000119105	Fetus with complete trisomy 21 syndrome
125511000119108	Fetus with complete trisomy 18 syndrome
125521000119101	Fetus with complete trisomy 13 syndrome
125963005	Patent ductus arteriosus with left-to-right shunt
125964004	Patent ductus arteriosus with right-to-left shunt
12674005	Multiple malformation syndrome with senile-like appearance
126762003	Talocalcaneal coalition
126763008	Congenital anomaly of perineum
126764002	Congenital anomaly of intestinal tract
127038008	Hereditary hemoglobinopathy due to globin chain mutation
127040003	Sickle cell-hemoglobin SS disease
127041004	Sickle cell-beta-thalassemia
127042006	Sickle cell beta plus thalassemia
127043001	Sickle cell-beta^0^-thalassemia
127044007	Sickle cell-delta beta^0^-thalassemia
127045008	Sickle cell anemia with coexistent alpha-thalassemia
127046009	Sickle cell trait with coexistent alpha-thalassemia
127047000	Sickle cell-hemoglobin Lepore disease
127048005	Sickle cell-Hemoglobin O Arab disease
1271009	Knuckle pads, deafness AND leukonychia syndrome
12721007	Trifid tongue
127328006	Congenital absence of skeletal bone
127329003	Congenital anomaly of visual system
127551000119100	Congenital hypoplasia of brain
12770006	Cyanotic congenital heart disease
127701000119109	Congenital positive ulnar variant of wrist
1280009	Isologous chimera
128061008	Longitudinal deficiency of foot
128062001	Congenital portal-systemic shunt
128063006	Congenital extrahepatic portal-systemic shunt
128064000	Congenital absence of portal vein
128065004	Congenital partial portal-systemic shunt
128066003	Congenital splenorenal shunt
128067007	Congenital intrahepatic portal-systemic shunt
128082002	Duane's syndrome, type 1
128083007	Duane's syndrome, type 2
128084001	Duane's syndrome, type 3
128099001	Platelet storage pool defect
128100009	Mixed alpha granule and dense body deficiency
128124001	Congenital anomaly of central nervous system
128190004	Inherited metabolic disorder of nervous system
128206006	Congenital sensory neuropathy with selective loss of small myelinated fibers
128219005	Dysostosis of bone of skull
128223002	Congenital anomaly of maxilla
128224008	Congenital anomaly of mandible
128274005	Congenital anomaly of nose
128275006	Congenital anomaly of nasal sinuses
128327004	Congenital anomaly of ocular adnexa
128332003	Congenital anomaly of digestive organ
128334002	Congenital anomaly of mouth
128335001	Congenital anomaly of duodenum
128336000	Congenital anomaly of palate
128346003	Congenital anomaly of peritoneum
128347007	Congenital anomaly of gastrointestinal tract
128352002	Congenital anomaly of cornea
128353007	Congenital anomaly of lens
128533009	Micropapilla
128534003	Congenital anomaly of posterior segment of eye
128544001	Congenital anomaly of talus
128555001	Congenital coronary artery fistula to left atrium
128556000	Congenital coronary artery fistula to left ventricle
128557009	Congenital coronary artery fistula to right atrium
128558004	Congenital coronary artery fistula to right ventricle
128563000	Juxtaposed atrial appendage
128566008	Congenital pulmonary vein confluence
128567004	Congenital pulmonary venous atrium
128568009	Congenital systemic venous atrium
128584005	Congenital pulmonary artery conduit
128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency
1287007	Congenital absence of bile duct
12897005	Congenital stricture of ureteropelvic junction
128985003	Congenital anomaly of iris
12907000	Thiamine-responsive megaloblastic anemia
129582000	Congenital coronary artery fistula to pulmonary artery
129601002	Congenital neurogenic ileus syndrome
129621001	Nemaline myopathy, early onset type
129622008	Nemaline myopathy, late onset type
13015741000119105	Congenital ocular melanocytosis of left eye
13015781000119100	Congenital ocular melanocytosis of right eye
13015821000119105	Congenital ocular melanocytosis of bilateral eyes
13059002	Congenital ichthyosis of skin
13144005	Methylcrotonyl-coenzyme A carboxylase deficiency
13213009	Congenital heart disease
13236000	Congenital spondylolisthesis
13262009	Synechia vulvae
13280000	Femoral hypoplasia - unusual facies syndrome
13282008	Congenital corneal opacity interfering with vision
13401001	Ablepharon
134219008	Os trigonum
13449007	Melnick-Needles syndrome
13453009	Anomalous muscle bands of left ventricle
13499006	Congenital anomaly of lacrimal system
13530005	Congenital lobulation of kidney
13555004	Ring chromosome 22 syndrome
13568007	Congenital duplication of stomach
13624003	Congenital cleft hand
13630003	Congenital absence of lobe of liver
13671009	Congenital stricture of urethra
13674001	Anomaly of chromosome pair 3
13689005	Congenital anomaly of aortic valve
1372004	Uterus unicornis
13806003	Congenital anomaly of urethra
13851000119109	Congenital facial asymmetry
13867009	Preductal coarctation of aorta
1393001	Lenz-Majewski hyperostosis syndrome
139811000119109	Homozygous methylenetetrahydrofolate reductase mutation
139821000119102	Heterozygous methylenetetrahydrofolate reductase mutation
14061004	Derencephalus
14091009	12p partial trisomy syndrome
14178006	Double renal pelvis
1418007	Hypoplastic chondrodystrophy
14210003	Lipofuscinosis
142191000119104	Congenital transverse septate vagina
142201000119101	Congenital longitudinal septate vagina
14365001	Congenital prolapse of bladder
14430002	Congenital stenosis of small intestine
14447001	Dandy-Walker syndrome
14482000	Anomalous origin of right subclavian artery
14532008	Congenital anomaly of trachea
14552009	Vestigial remnants of canal of Cloquet
14582003	Microstomia
14637005	Late-infantile neuronal ceroid lipofuscinosis
14689000	Uterus cordiformis
1479009	20q partial trisomy syndrome
14821001	Situs ambiguus
14870002	Achondrogenesis, type IB
14886009	Abdominal heart
1492007	Congenital anomaly of large intestine
14921002	Aarskog syndrome
15059000	Retinal dystrophy in systemic lipidosis
15069006	Russell-Silver syndrome
15080006	Myotubular myopathy with type I atrophy
15096009	Congenital insufficiency of pulmonary valve
1512006	Congenital stricture of bile duct
15121005	Hereditary elliptocytosis due to glycophorin C deficiency
15135007	Congenital transposition of stomach
15182000	Coffin-Lowry syndrome
1519002	Congenital phlebectasia
15191001	Origin of innominate artery from left side of aortic arch
15326009	beta^+^ Thalassemia, normal Hb A>2<, type 2
15346004	Familial hypoalphalipoproteinemia
1538006	Central nervous system malformation in fetus affecting obstetrical care
15419008	Congenital pyloric membrane
1542009	Omphalocele with obstruction
15453007	Congenital dislocation of knee with genu recurvatum
15459006	Endocardial cushion defect
154818001	Congenital afibrinogenemia
15545001	Congenital duplication of uterus
15552004	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
15557005	First arch syndrome
15582005	Congenital absence of lobe of lung
15630081000119103	Congenital anteversion of right femur
15630121000119101	Congenital anteversion of left femur
15630161000119106	Congenital anteversion of bilateral femurs
15637111000119107	Congenital hammer toe of lesser toe of bilateral feet
15663008	Placenta previa centralis
15665321000119101	Congenital chorioretinal coloboma of right eye
15665361000119106	Congenital chorioretinal coloboma of left eye
15665401000119102	Congenital chorioretinal coloboma of bilateral eyes
15665641000119103	Anophthalmos of bilateral eyes
15665921000119100	Tarsal coalitions of bilateral feet
15666081000119105	Accessory bilateral ribs
15666481000119100	Accessory left tarsal navicular bone
15666521000119100	Accessory right tarsal navicular bone
15666561000119105	Accessory bilateral tarsal navicular bones
15666641000119107	Accessory tarsal bone of right foot
15666681000119102	Accessory tarsal bone of left foot
15667041000119103	Radioulnar synostosis of bilateral upper limbs
15667401000119106	Right metatarsus adductus
15667441000119108	Bilateral metatarsus adductus
15667481000119103	Left metatarsus adductus
15667841000119106	Congenital deformity of bilateral hip joints
15667881000119101	Congenital deformity of right hip joint
15667921000119108	Congenital deformity of left hip joint
15668321000119108	Congenital pes valgo planus of bilateral feet
15668561000119109	Talipes valgus of left foot
15668601000119109	Talipes valgus of right foot
15668721000119107	Congenital deformity of bilateral feet
15668761000119102	Congenital deformity of bilateral hands
15668801000119105	Congenital deformity of right hand
15668921000119109	Congenital deformity of left hand
15669241000119104	Congenital absence of left lower limb
15669321000119104	Congenital absence of right lower limb
15669601000119103	Brachydactyly of finger of right hand
15669641000119101	Brachydactyly of finger of left hand
15669681000119106	Brachydactyly of finger of bilateral hands
15669721000119100	Talipes of bilateral feet
15669761000119105	Talipes of right foot
15669801000119102	Talipes of left foot
15669881000119105	Congenital retroversion of bilateral femurs
15671007	Encephalocele of orbit
15671161000119102	Congenital exotropia of bilateral eyes
15671281000119104	Brachydactyly of toes of left foot
15671321000119109	Brachydactyly of toes of bilateral feet
15671361000119104	Brachydactyly of toes of right foot
15673041000119101	Congenital glaucoma of right eye
156936000	Agenesis of lung
15788006	Congenital cleft thyroid cartilage
15841002	21q partial monosomy syndrome
15843004	Congenital absence of vertebra
15863931000119108	Duane's syndrome of bilateral eyes
15863971000119106	Cyst of bilateral preauricular regions
15864011000119101	Cyst of left preauricular region
15864051000119100	Cyst of right preauricular region
15864091000119105	Congenital malformation of bilateral ears
15864131000119107	Congenital anomaly of left ear
15864171000119105	Congenital anomaly of right ear
15864211000119107	Congenital atresia of bilateral external ears
15864251000119108	Congenital atresia of left external ear
15864291000119103	Congenital atresia of right external ear
15864481000119102	Congenital deformity of toe of bilateral feet
15864521000119102	Congenital deformity of toe of left foot
15864561000119107	Congenital deformity of toe of right foot
15864601000119107	Congenital overriding toes of bilateral feet
15864641000119109	Congenital overriding toes of left foot
15864681000119104	Congenital overriding toes of right foot
15890002	Albinism
15892005	Mucopolysaccharidosis III-D
15916651000119107	Congenital pes planus of bilateral feet
15931821000119104	Congenital torsion of left ovary
15931861000119109	Congenital torsion of right ovary
15934341000119103	Congenital bilateral short Achilles tendons
15935701000119103	Congenital deformity of left clavicle
15935781000119106	Congenital deformity of right clavicle
15937301000119106	Congenital distichiasis of left eyelid
15937341000119108	Congenital distichiasis of right eyelid
15959861000119107	Embryonic cyst of right Gartner's duct
15959901000119101	Embryonic cyst of left Gartner's duct
15964981000119104	Congenital anomaly of cardiac chamber
15969009	Desmiognathus
15973301000119100	Congenital deformity of bilateral lower limbs
15973381000119108	Congenital malformation of right calcaneus
15973421000119104	Congenital malformation of left calcaneus
15973541000119106	Congenital deformity of right lower limb
15973621000119101	Congenital deformity of left lower limb
15978003	Glycogen storage disease, muscular form
15980791000119108	Congenital anomaly of left eyelid
15980831000119102	Congenital anomaly of right eyelid
15980871000119104	Congenital blepharophimosis of bilateral eyelids
15983231000119107	Congenital malformation of bilateral external ears
15983431000119106	Accessory auricle of right ear
15983471000119109	Accessory auricle of left ear
15984431000119109	Impairment of hearing of right ear co-occurrent and due to congenital ear malformation
15984471000119107	Impairment of hearing of left ear co-occurrent and due to congenital ear malformation
15984511000119103	Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation
15986071000119108	Congenital anomaly of right pupil
15986111000119101	Congenital coloboma of bilateral optic discs
15986151000119100	Congenital coloboma of right optic disc
15986191000119105	Congenital coloboma of left optic disc
15986231000119101	Congenital anomaly of right optic disc
15986271000119103	Congenital anomaly of bilateral optic discs
15986311000119103	Congenital anomaly of left optic disc
15986511000119108	Congenital hypertrophy of retinal pigment epithelium of right eye
15986551000119109	Congenital hypertrophy of retinal pigment epithelium of bilateral eyes
15986591000119104	Congenital hypertrophy of retinal pigment epithelium of left eye
15986791000119106	Congenital anomaly of bilateral retinas
15986831000119100	Persistent hyperplastic primary vitreous of left eye
15986871000119102	Persistent hyperplastic primary vitreous of right eye
15986951000119103	Congenital aniridia of right eye
15986991000119108	Congenital aniridia of left eye
15987031000119108	Congenital aniridia of bilateral eyes
15987071000119106	Congenital anomaly of left pupil
15987111000119104	Congenital anomaly of bilateral pupils
15987151000119103	Microphthalmos of bilateral eyes
15987191000119108	Microphthalmos of right eye
15987231000119104	Microphthalmos of left eye
15987391000119105	Congenital opacity of cornea of left eye
15987431000119100	Congenital opacity of cornea of right eye
15987551000119107	Congenital anomaly of bilateral corneas
15987871000119100	Congenital coloboma of right lens
15987911000119102	Congenital coloboma of left lens
15988031000119109	Congenital coloboma of left eyelid
15988071000119107	Congenital coloboma of right eyelid
15988111000119100	Congenital anomaly of bilateral sclerae
15988151000119104	Congenital anomaly of left sclera
15988191000119109	Congenital anomaly of right sclera
15991002	Severe steroid 21-hydroxylase deficiency
16004071000119105	Congenital trigger thumb of bilateral hands
16004111000119103	Congenital trigger thumb of right hand
16004151000119102	Congenital trigger thumb of left hand
16009191000119108	Congenital deformity of bilateral upper limbs
16018591000119107	Congenital trigger finger of right hand
16018671000119105	Congenital trigger finger of left hand
16018711000119109	Congenital deformity of right finger
16018751000119105	Congenital deformity of left finger
16018791000119100	Congenital deformity of bilateral fingers
16026008	Congenital cerebellar hypoplasia
16026031000119109	Congenital arteriovenous malformation of right lower limb
16026151000119104	Congenital arteriovenous malformation of left lower limb
16054391000119102	Congenital hypoplasia of right optic nerve
16054431000119107	Congenital hypoplasia of left optic nerve
16054471000119105	Congenital hypoplasia of bilateral optic nerves
16064571000119103	Congenital hamartoma of bilateral irises
16071000	Congenital generalized flexion contractures of lower limb joints
16090091000119100	Congenital absence of left hand
16095003	Heterodymus
16129004	10q partial monosomy syndrome
16297002	Congenital hydronephrosis
16360009	Delta beta thalassemia
16376000	Congenital duodenal stenosis
16402000	Sickle cell trait
16427007	Delta thalassemia
16469741000119106	Microperforate hymen
16507009	Ectopic kidney
16512005	Congenital absence of membranous labyrinth
16517004	Cerebral lipidosis
165185004	Dermatoglyphs - skin lines
16520041000119104	Congenital fenestration of basilar artery
16528221000119104	Congenital duplication of anterior communicating artery
16567006	Mesocardia
16569009	Anomaly of chromosome pair 15
16585004	Congenital spade-like hand
16603000	Talipomanus
166071000000101	Congenital dilated lateral ventricles of brain
16619007	Congenital occlusion of ureter
16652001	Fabry's disease
16696981000119105	Congenital anomaly of bilateral renal arteries
16697061000119100	Congenital anomaly of left renal artery
16697181000119105	Congenital anomaly of right renal artery
16856000	Longitudinal deficiency of humerus
16888881000119105	Congenital stenosis of right external auditory canal
16889021000119105	Congenital stenosis of left external auditory canal
16889061000119100	Congenital stenosis of bilateral external auditory canals
16904009	Incomplete congenital absence of thigh AND leg
1694004	Accessory lobe of lung
16958000	Complete congenital absence of teeth
16964007	Hereditary persistence of fetal hemoglobin thalassemia
16972009	Congenital aneurysm of aorta
17024001	Aortopulmonary window
17025000	Ehlers-Danlos syndrome, type 4
17122004	4p partial monosomy syndrome
17128000	Congenital eventration of diaphragm
17142008	Congenital absence of uterus
17144009	Fibrochondrogenesis
17170005	Pili torti
17190001	Congenital diaphragmatic hernia
17192009	Autosomal recessive asexual dwarfism
172069000	Congenital meningocele
17234001	Allantoic cyst
17268007	Congenital clinodactyly
17337006	Double artery
17394001	Ebstein's anomaly with atrial septal defect
17422006	Ectopic thymic tissue
17471001	Polyorchism
17480001	Atresia of pupil
17484005	Sacralization of lumbar vertebra
17527002	Overriding skull bones
17568006	Sclerosteosis
17601009	Congenital subluxation of carpus
17604001	Bilateral right-sidedness sequence
17608003	Child syndrome
1769008	Thoracodidymus
17718000	Ostium primum defect
177504007	Acheiropodia
17760001	Anomaly of chromosome pair 13
17761000119109	High lumbar myelomeningocele
17771000119103	Low lumbar myelomeningocele
1779005	Mohr syndrome
17808001	Azygos lobe of lung
17818006	Leri-Weill dyschondrosteosis
17827007	Cross syndrome
17885001	Iodotyrosine deiodination defect
17901006	Primary hyperoxaluria
180485001	Kerasin thesaurismosis
18077009	Trichorhinophalangeal syndrome
18132009	Congenital deformity of sacroiliac joint
18166000	Accessory breast
18269002	Congenital duodenal obstruction
18273004	Unstable hemoglobin disease
18355000	Diastematocrania
18389004	Microcolon
18417009	Oligomeganephronic hypoplasia of kidney
18546004	Congenital stenosis of aortic valve
1856001	Accessory nose
1857005	Congenital rubella syndrome
18620009	Congenital sequestration of lung
186570004	Rubella deafness
186833000	Early congenital syphilis - latent
186842007	Late congenital syphilitic oculopathy
18735004	Congenital omphalocele
18749008	Congenital koilonychia
18756002	Juvenile GM1 gangliosidosis
18792003	H-type congenital tracheoesophageal fistula
18805001	Congenital secretory diarrhea, sodium type
18820007	Preauricular cyst
18821006	Dysplasia of eye
18822004	Centrofacial lentiginosis syndrome
18899000	Schinzel-Giedion syndrome
18910001	Cleft uvula
18927009	Niemann-Pick disease, type D
1896004	Ectopic breast tissue
18978002	Ovotestis
190268003	Congenital hypothyroidism
190304001	Dyshormonogenic goiter
19042000	Congenital prolapse of urethra
190681003	Cystinosis
190760009	Disorders of pyruvate metabolism and gluconeogenesis
190764000	Essential pentosuria
1908008	von Willebrand disease, type IIC
190859005	Hypophosphatasia
190913009	Congenital porphyria
19092004	Holt-Oram syndrome
190948002	Defect in post-translational modification of lysosomal enzymes
190952002	Enterokinase deficiency
190953007	Trypsinogen deficiency
190993005	Autosomal recessive severe combined immunodeficiency
190995003	Thymic aplasia or dysplasia with immunodeficiency
190996002	Severe combined immunodeficiency with reticular dysgenesis
190997006	Severe combined immunodeficiency with low T- and B-cell numbers
190998001	Severe combined immunodeficiency with low or normal B-cell numbers
191001007	Major histocompatibility complex class I deficiency
191002000	Major histocompatibility complex class II deficiency
191011000	Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions
191012007	Common variable immunodeficiency with predominant immunoregulatory T-cell disorders
191013002	Common variable immunodeficiency with autoantibodies to B- or T-cells
19109004	Syringomyelobulbia
191146005	Congenital folate malabsorption anemia
191169008	Hereditary elliptocytosis
191187006	Alpha trait thalassemia
191189009	Beta thalassemia intermedia
191201002	Hereditary persistence of fetal hemoglobin
191329002	Hereditary vascular fragility
19133005	Neurofibromatosis syndrome
19179000	Ischiopagus
192008	Congenital syphilitic hepatomegaly
1922008	Congenital absence of urethra
19249002	Premature closure of foramen ovale
1926006	Osteopetrosis
19276002	Congenital cerebral cyst
192787004	B variant hexosaminidase A deficiency
192788009	Retinal dystrophy in cerebroretinal lipidosis
19290004	Clutton's joints
192949002	Congenital paraplegia
192976002	Progressive supranuclear palsy
193222002	Benign congenital myopathy
193413001	Leber's amaurosis
193687000	Oguchi's disease
19387007	Ectopic pancreas
193994000	Congenital nasolacrimal duct obstruction
19410003	Macrocephaly
19416009	Congenital anomaly of eye
19419002	8p partial monosomy syndrome
19441002	Occipital dysplasia
19442009	Heterozygous thalassemia
19520006	von Willebrand disease, type IIB
1953005	Congenital deficiency of pigment of skin
19550003	22q partial monosomy syndrome
1955003	Preauricular dimple
19604005	Triglyceride storage disease with ichthyosis
196287001	Odontogenesis imperfecta
196452003	Non-odontogenic developmental cyst of jaw
1967001	Longitudinal absence of radius AND ulna
196856007	Omphalocele with gangrene
196864001	Omphalocele - irreducible
197140007	Secondary congenital megacolon
197601003	Finnish congenital nephrotic syndrome
198273008	Congenital vaginal enterocele
19886006	Sturge-Weber syndrome
199266007	Congenital cardiovascular disorder during pregnancy - baby delivered
199267003	Congenital cardiovascular disorder in the puerperium - baby delivered during current episode of care
199268008	Congenital cardiovascular disorder during pregnancy - baby not yet delivered
199269000	Congenital cardiovascular disorder in the puerperium - baby delivered during previous episode of care
199879009	Congenital anomaly of skin
20136007	Accessory carpal bones
201698009	Hexadactyly
20305008	Congenital myotonia, autosomal recessive form
20348002	14q partial distal trisomy syndrome
20392000	Congenital entropion
203923004	Acrania
203927003	Iniencephaly - closed
203928008	Iniencephaly - open
203934001	Cervical spina bifida with hydrocephalus
203935000	Thoracic spina bifida with hydrocephalus
203936004	Lumbar spina bifida with hydrocephalus
203941007	Cervical spina bifida with hydrocephalus - open
203942000	Thoracic spina bifida with hydrocephalus - open
203943005	Lumbar spina bifida with hydrocephalus - open
203944004	Sacral spina bifida with hydrocephalus - open
203946002	Spina bifida with hydrocephalus - closed
203948001	Cervical spina bifida with hydrocephalus - closed
203949009	Thoracic spina bifida with hydrocephalus - closed
203950009	Lumbar spina bifida with hydrocephalus - closed
203951008	Sacral spina bifida with hydrocephalus - closed
203954000	Spina bifida with hydrocephalus of late onset
203955004	Spina bifida with stenosis of aqueduct of Sylvius
203957007	Dandy-Walker syndrome with spina bifida
203969004	Cervical spinal hydromeningocele
203974007	Cervical hydromyelocele
203975008	Thoracic hydromyelocele
203976009	Lumbar hydromyelocele
203980004	Cervical spinal meningocele
203981000	Thoracic spinal meningocele
203982007	Lumbar spinal meningocele
203985009	Cervical meningomyelocele
203986005	Thoracic meningomyelocele
203987001	Lumbar meningomyelocele
203990007	Cervical myelocele
203991006	Thoracic myelocele
203992004	Lumbar myelocele
203994003	Myelocystocele
203996001	Cervical myelocystocele
203997005	Thoracic myelocystocele
203998000	Lumbar myelocystocele
204003007	Cervical spina bifida without hydrocephalus - open
204004001	Thoracic spina bifida without hydrocephalus - open
204005000	Lumbar spina bifida without hydrocephalus - open
204006004	Sacral spina bifida without hydrocephalus - open
204008003	Spina bifida without hydrocephalus - closed
204010001	Cervical spina bifida without hydrocephalus - closed
204011002	Thoracic spina bifida without hydrocephalus - closed
204012009	Lumbar spina bifida without hydrocephalus - closed
204013004	Sacral spina bifida without hydrocephalus - closed
204021005	Encephalomyelocele
204022003	Hydromeningocele - cranial
204036008	Lissencephaly
204040004	Agenesis of cerebrum
204042007	Congenital malformation of corpus callosum
204043002	Hypoplasia of corpus callosum
204044008	Aplasia of corpus callosum
204046005	Anomalies of hypothalamus
204047001	Anomalies of cerebellum
204049003	Aplasia of cerebellum
204052006	Cebocephaly
204061006	Foramen of Magendie atresia
204062004	Foramen of Luschka atresia
204067005	Single congenital cerebral cyst
204068000	Multiple congenital cerebral cysts
204072001	Congenital adhesions of cerebral meninges
204074000	Multiple brain anomalies
204081007	Spinal cord hypoplasia
204102004	Cryptophthalmos syndrome
204108000	Simple microphthalmos
204113001	Congenital glaucoma
204118005	Congenital keratoglobus
204127006	Cortical and zonular cataract
204128001	Congenital lamellar cataract
204134008	Coloboma of lens
204138006	Congenital blue dot cataract
204139003	Congenital membranous cataract
204143004	Corneal size and shape anomalies
204145006	Cornea plana
204148008	Congenital corneal opacity with visual deficit
204149000	Congenital corneal opacity without visual deficit
204152008	Axenfeld anomaly
204153003	Irido-corneo-trabecular dysgenesis
204154009	Irido-trabecular dysgenesis
204159004	Polycoria
204164000	Blue sclera
204166003	Multiple anterior segment anomalies
204171005	Congenital vitreous opacity
204173008	Coloboma of retina
204175001	Congenital fold and cyst of posterior segment of eye
204181009	Congenital retinal fold
204189006	Congenital stricture of retinal artery
204192005	Coloboma of choroid
204196008	Congenital anomalies of eyelid, lacrimal system and orbit
204203001	Hypoplasia of eyelid
204208005	Agenesis of punctum lacrimale
204216001	Accessory eye muscles
204217005	Hypoplasia of eye muscle
204223000	Ear, face and neck congenital anomalies
204245004	Accessory tragus
204250005	Congenital abnormality of Eustachian tube
204252002	Congenital stenosis of eustachian tube
204256004	Congenital pointed ear
204257008	Congenital prominent auricle
204258003	Congenital ridge ear
204266007	Branchial cleft external sinus
204267003	Branchial cleft internal sinus
204268008	Fistula of branchial cleft
204272007	Preauricular fistula
204285005	Congenital absence of chin
204296002	Discordant ventriculoarterial connection
204299009	Dextrotransposition of aorta
204300001	Incomplete great vessel transposition
204306007	Pentalogy of Fallot
204311009	Eisenmenger's complex
204312002	Ventricular septal defect between left ventricle and right atrium
204317008	Patent foramen ovale
204318003	Persistent ostium secundum
204319006	Lutembacher's syndrome
204330009	Common atrioventricular-type ventricular septal defect
204339005	Congenital pulmonary valve abnormality
204342004	Congenital atresia of the pulmonary valve
204345002	Congenital fusion of pulmonic cusps
204346001	Congenital fusion of pulmonary valve segment
204351007	Fallot's trilogy
204352000	Supernumerary pulmonary valve cusps
204354004	Congenital tricuspid atresia and stenosis
204357006	Ebstein's anomaly of tricuspid valve
204362007	Parachute malformation of mitral valve
204363002	Supernumerary cusps of the mitral valve
204370002	Stenosis of infundibulum of right ventricle
204378009	Congenital coronary aneurysm
204379001	Congenital stricture of coronary artery
204383001	Congenital complete atrioventricular heart block
204384007	Congenital incomplete atrioventricular heart block
204394002	Congenital anomaly of myocardium
204395001	Congenital aneurysm of heart
204397009	Cor triloculare
204398004	Congenital epicardial cyst
204399007	Hemicardia
204423002	Anomalous origin of the aortic arch
204427001	Persistent aortic arch convolutions
204431007	Atresia and stenosis of aorta
204433005	Aplasia of aorta
204448004	Atresia of pulmonary artery with septal defect
204451006	Anomalies of great veins
204456001	Subdiaphragmatic total anomalous pulmonary venous return
204457005	Supradiaphragmatic total anomalous pulmonary venous return
204460003	Anomalous portal vein termination
204467000	Pulmonary vein atresia
204482005	Congenital venous varix
204493007	Arteriovenous malformation of precerebral vessels
204501003	Congenital stricture of cerebral artery
204508009	Choanal atresia
204511005	Atresia of the anterior nares
204512003	Atresia of the posterior nares
204513008	Congenital stenosis of the anterior nares
204519007	Underdevelopment of nose
204521002	Congenital cleft nose
204524005	Congenital perforation of the nasal sinus wall
204526007	Congenital fissure of nose
204529000	Congenital glottic web of larynx
204530005	Congenital subglottic web of larynx
204533007	Agenesis of larynx, trachea and bronchus
204534001	Agenesis of bronchus
204535000	Agenesis of larynx
204544004	Atresia of larynx and trachea
204550009	Congenital stenosis of larynx, trachea and bronchus
204551008	Congenital bronchial stenosis
204552001	Congenital subglottic stenosis
204553006	Congenital supraglottic stenosis
204557007	Congenital fissure of epiglottis
204558002	Congenital cleft of posterior cricoid cartilage
204575008	Congenital absence of lung fissures
204578005	Fusion of lobes of lung
204608004	Central cleft lip
204614006	Bilateral complete cleft palate with cleft lip
204615007	Bilateral incomplete cleft palate with cleft lip
204616008	Central complete cleft palate with cleft lip
204617004	Central incomplete cleft palate with cleft lip
204620007	Cleft hard palate with cleft lip, bilateral
204630003	Cleft tongue
204631004	Congenital plicated tongue
204635008	Congenital salivary gland fistula
204642008	Congenital pharyngeal polyp
204644009	Congenital ranula
204647002	Congenital ectropion of lip
204652007	Congenital esophageal fistula
204658006	Congenital absence of esophagus with tracheoesophageal fistula
204659003	Esophageal atresia with tracheoesophageal fistula
204667006	Congenital esophageal pouch
204670005	Congenital pyloric spasm
204671009	Congenital pyloric stenosis
204676004	Ectopic gastric mucosa
204687007	Displaced Meckel's diverticulum
204688002	Hypertrophic Meckel's diverticulum
204691002	Small intestine atresia and stenosis
204695006	Congenital absence of duodenum
204696007	Congenital absence of jejunum
204697003	Congenital absence of ileum
204699000	Congenital jejunal stenosis
204700004	Congenital ileal stenosis
204702007	Imperforate jejunum
204708006	Congenital absence of anus with fistula
204709003	Congenital absence of rectum with fistula
204711007	Atresia of large intestine
204712000	Anal atresia
204715003	Congenital atresia of appendix
204716002	Atresia of anus with fistula
204717006	Atresia of rectum with fistula
204721004	Congenital occlusion of anus with fistula
204723001	Congenital stricture of anus
204724007	Congenital stricture of anus with fistula
204728005	Congenital stricture of rectum with fistula
204731006	Imperforate anus
204736001	Imperforate large intestine
204739008	Hirschsprung's disease
204740005	Long segment Hirschsprung's disease
204741009	Short segment Hirschsprung's disease
204745000	Total intestinal aganglionosis
204748003	Congenital intestinal adhesions
204750006	Malrotation of colon and cecum
204762005	Transposition of cecum
204769001	Congenital fecal fistula
204781002	Congenital absence of hepatic ducts
204782009	Atresia of hepatic ducts
204787003	Congenital absence of liver and/or gallbladder
204788008	Congenital atrophy of left lobe of liver
204790009	Liver and/or biliary duplication
204795004	Congenital floating liver
204797007	Congenital dilation of bile duct
204798002	Congenital diverticulum of bile duct
204799005	Liver hyperplasia
204805004	Anomalies of pancreas
204806003	Agenesis of pancreas
204808002	Congenital cyst of pancreas
204821009	Congenital malformation of genital organs
204826004	Fallopian tube and broad ligament anomalies
204844007	Agenesis of uterus
204847000	Congenital fistulae between uterus and digestive and urinary tracts
204848005	Congenital uterointestinal fistula
204849002	Congenital uterovesical fistula
204853000	Cervical, vaginal and external female genital anomalies
204867009	Agenesis of vulva
204878001	Undescended testicle
204886001	Hypospadias and epispadias
204888000	Hypospadias, penile
204889008	Hypospadias, penoscrotal
204890004	Hypospadias, perineal
204891000	Hypospadias, balanic
204905003	Congenital aplasia of round ligament
204907006	Congenital aplasia of scrotum
204908001	Aplasia of penis
20491006	Calcaneonavicular bar
204920009	Cyst of hydatid of Morgagni
204921008	Cyst of Wolffian duct
204922001	Hydatid cyst of Morgagni - male
204923006	Hydatid cyst of Morgagni - female
204924000	Wolffian duct cyst - male
204925004	Wolffian duct cyst - female
204933003	Hooded penis
204938007	Renal agenesis and dysgenesis
204941003	Congenital renal atrophy
204942005	Renal agenesis
204949001	Renal dysplasia
204950001	Bilateral renal dysplasia
204967008	Renal pelvis and ureter obstructive defects
204973009	Simple ureterocele
204974003	Impervious ureter
204984002	Fusion of kidneys
204991004	Deviation of ureter
204999002	Atresia of bladder neck
205003000	Atresia of anterior urethra
205016000	Malformation of urachus
205022009	Congenital bladder hernia
205023004	Congenital prolapse of bladder mucosa
205024005	Congenital hourglass bladder
205026007	Epispadias, female
205027003	Hypospadias, female
205043005	Congenital deformity of spine
205045003	Congenital scoliosis due to bony malformation
205052001	Congenital subluxation of hip, bilateral
205057007	Bilateral dysplastic hip
205063003	Congenital genu recurvatum
205064009	Congenital dislocation of knee grade I
205065005	Congenital dislocation of knee grade II
205066006	Congenital dislocation of knee grade III
205067002	Congenital dislocation of patella
205068007	Congenital bowing of fibula
205073001	Congenital complex varus foot deformity
205082007	Congenital vertical talus
205083002	Congenital talipes calcaneovalgus
205091006	Congenital pes cavus
205092004	Congenital claw foot
205093009	Congenital short Achilles tendon
205097005	Congenital talipes equinus
20510008	Torsion of accessory fallopian tube
205101001	Congenital pectus carinatum
205108007	Congenital flexion contracture of hip
205109004	Congenital abduction contracture of hip
205110009	Congenital flexion contracture of knee
205111008	Congenital short quadriceps
205122007	Radial polydactyly Wassel 1
205123002	Radial polydactyly Wassel 2
205124008	Radial polydactyly Wassel 3
205125009	Radial polydactyly Wassel 4
205126005	Radial polydactyly Wassel 5
205127001	Radial polydactyly Wassel 6
205129003	Radial polydactyly Wassel 7
205130008	Central polydactyly of fingers
205131007	Ulnar polydactyly of fingers
205132000	Preaxial polydactyly of toe
205133005	Postaxial polydactyly of toe
205135003	Radial polydactyly
205139009	Simple syndactyly of fingers - first web
205140006	Simple syndactyly of fingers - second to fourth web
205142003	Osseous syndactyly of fingers - first web
205143008	Osseous syndactyly of fingers - second to fourth web
205144002	Simple syndactyly of toes
205145001	Simple syndactyly of toes, first web space
205146000	Simple syndactyly lesser toes
205148004	Osseous syndactyly of toes first web space
205149007	Osseous syndactyly lesser toes
205163001	Transverse deficiency of arm, upper arm level - short
205164007	Transverse deficiency of arm, upper arm level - long
205171002	Partial radial absence
205174005	Hypoplastic thumb-Blauth 1
205175006	Hypoplastic thumb-Blauth 2
205176007	Hypoplastic thumb-Blauth 3
205177003	Hypoplastic thumb-Blauth 4
205178008	Hypoplastic thumb-Blauth 5
205179000	Agenesis of ulna
205180002	Partial defect of ulna
205183000	Transverse arrest carpal level
205184006	Transverse arrest metacarpal first ray
205187004	Transverse arrest phalangeal level first ray
205188009	Transverse arrest phalangeal level second ray
205189001	Transverse arrest phalangeal level third ray
205190005	Transverse arrest phalangeal level fourth ray
205191009	Transverse arrest phalangeal level fifth ray
205203006	Transverse deficiency lower limb - hip level
205204000	Transverse deficiency lower limb - metatarsal level
205206003	Transverse deficiency lower limb - through femur
205207007	Transverse deficiency lower limb - through tibia/fibula
205211001	Proximal femoral focal deficiency
205212008	Congenital tibial deficiency type I
205213003	Congenital tibial deficiency type II
205215005	Congenital tibial deficiency type III
205216006	Congenital fibular deficiency type I
205217002	Congenital fibular deficiency type II
205218007	Congenital fibular deficiency type III
205221009	Agenesis of multiple tarsal bones
205222002	Agenesis of first metatarsal
205223007	Agenesis of fifth metatarsal
205225000	Agenesis of fourth and fifth metatarsals
205227008	Congenital absence of great toe
205228003	Congenital absence of fifth toe
205230001	Congenital absence of fourth and fifth toes
205253000	Proximal radioulnar synostosis
205254006	Radioulnar synostosis and dislocation of radial head
205255007	Distal radioulnar synostosis
205258009	Acrocephalosyndactyly type I
205260006	Acrocephalopolysyndactyly
205261005	Macrodactyly of fingers - simple
205262003	Macrodactyly of fingers- fatty nerve tumor
205264002	Cleft hand - first cleft
205265001	Cleft hand - central
205266000	Cleft hand with syndactyly
205267009	Cleft hand with polydactyly
205269007	Windblown hand
205270008	Aberrant forearm flexor muscle
205271007	Aberrant forearm extensor muscle
205273005	Thumb in palm deformity
205274004	Congenital trigger thumb
205276002	Lunate-triquetrum synostosis
205277006	Capitate-hamate synostosis
205278001	Scaphoid-lunate synostosis
205280007	Proximal interphalangeal joint symphalangism
205281006	Distal interphalangeal joint symphalangism
205284003	Duplication of whole limb
205285002	Duplication of humerus
205286001	Duplication of radius
205288000	Duplication of whole hand
205291000	Overgrowth of whole upper limb
205292007	Overgrowth of partial upper limb
205297001	Undergrowth of whole hand
205299003	Constriction ring syndrome of upper limb
205304002	Constriction ring of upper limb with acrosyndactyly and amputation
205306000	Congenital complete absence of upper limb
205308004	Triphalangeal thumb
205311003	Brachydactyly-all 3 phalanges
205312005	Brachydactyly-missing phalanx
205313000	Camptodactyly-little finger
205315007	Clinodactyly with delta phalanx
205316008	Clinodactyly, with no delta phalanx
205317004	Brachymesophalangia
205322004	Radioulnar dysostosis
205328000	Congenital humeral varus
205329008	Humeroradial synostosis
205330003	Humeroulnar synostosis
205342008	Macrodactyly of toes - simple
205343003	Macrodactyly of toes - fatty nerve tumor
205346006	Brachydactyly of toes
205347002	Congenital crossed toes
205348007	Congenital curly toes
205349004	Brachyphalangia of little toe
205351000	Perodactylia of great toe
205352007	Perodactylia of lesser toe
205353002	Perodactylia of multiple toes
205354008	Triphalangeal great toe
205358006	Split foot
205361007	Naviculocuneiform bar
205362000	Complex tarsal coalition
205364004	Failure of soft tissue differentiation of lower limb
205365003	Aberrant muscle of the lower limb
205366002	Failure of differentiation of bones of lower limb
205367006	Congenital synostosis of lower limb bones
205368001	Duplication of lower limb bone
205369009	Congenital overgrowth of lower limb
205370005	Congenital overgrowth of proximal lower limb
205371009	Congenital overgrowth of distal lower limb
205372002	Congenital overgrowth of foot
205373007	Congenital overgrowth of whole lower limb
205382001	Constriction ring syndrome of lower limb
205385004	Constriction ring of lower limb with lymphedema
205386003	Intrauterine amputation of lower limb
205387007	Constriction ring syndrome of lower limb with amputation
205395006	Congenital angulation of tibia
205397003	Congenital varus ankle
205398008	Congenital valgus ankle
205399000	Congenital ball and socket ankle
205418005	Goldenhar syndrome
205425003	Sacral agenesis
205427006	Cervical hemivertebra- balanced
205428001	Cervical hemivertebra - unbalanced
205429009	Thoracic hemivertebra- balanced
205430004	Thoracic hemivertebra - unbalanced
205431000	Lumbar hemivertebra - balanced
205432007	Lumbar hemivertebra - unbalanced
205435009	Congenital complete fusion of spine
205436005	Congenital partial fusion of spine - balanced
205437001	Congenital partial fusion of spine - unbalanced
205438006	Congenital partial fusion of spine with hemivertebra - balanced
205439003	Congenital partial fusion of spine with hemivertebra - unbalanced
205456006	Hypoplasia of spine
205460009	Accessory rib
205465004	Chondrodysplasia
205468002	Hypochondroplasia
205473008	Mesomelic dysplasia
205480005	Dysplasia epiphysealis hemimelica
205481009	Metachondromatosis
205482002	Lethal retarded ossification syndromes
205483007	Hypochondrogenesis
205484001	Short rib polydactyly syndrome
205496008	Osteogenesis imperfecta type II
205497004	Osteogenesis imperfecta type IV
205503007	Osteopetrosis - delayed type
205506004	Craniodiaphyseal dysplasia
205532005	Aplasia of muscle
205545009	Congenital elephantiasis
205548006	Harlequin ichthyosis
205550003	Lamellar ichthyosis
205557000	Abnormal palmar creases
205564003	Congenital pigmentary skin anomalies
205570009	Brugsch's syndrome
205573006	Focal dermal hypoplasia
205575004	Keratoderma areata
205583005	Hereditary benign acanthosis nigricans
205592008	Congenital localized alopecia
205597002	Taenzer's hair
205615000	Trisomy 21- meiotic nondisjunction
205616004	Trisomy 21- mitotic nondisjunction mosaicism
205619006	Trisomy 13, meiotic nondisjunction
205620000	Trisomy 13 - mitotic nondisjunction mosaicism
205623003	Trisomy 18 - meiotic nondisjunction
205624009	Trisomy 18 - mitotic nondisjunction mosaicism
205627002	Monosomy and deletion from autosome
205630009	Deletion of long arm of chromosome 13
205634000	Deletion seen only at prometaphase
205636003	Whole chromosome monosomy - meiotic nondisjunction
205638002	Monosomy 21, mosaicism
205646001	Whole chromosome trisomy syndrome
205647005	Trisomy 6
205648000	Trisomy 7
205649008	Trisomy 8
205650008	Trisomy 9
205651007	Trisomy 10
205652000	Trisomy 11
205653005	Trisomy 12
205655003	Trisomy 22
205657006	Whole chromosome trisomy, mosaicism
205660004	Partial trisomy syndromes
205661000	Major partial trisomy
205662007	Minor partial trisomy
205665009	Duplication seen only at prometaphase
205666005	Duplication with other complex rearrangement
205681004	Gonadal dysgenesis
205683001	Ovarian dysgenesis
205684007	Turner's phenotype, karyotype normal
205686009	Karyotype 46, X iso (Xq)
205687000	Karyotype 46, X with abnormal sex chromosome except iso (Xq)
205693008	XY, female phenotype
205698004	Klinefelter syndrome, male with 46,XX karyotype
205699007	Klinefelter's syndrome, XXYY
205700008	Klinefelter's syndrome, XY/XXY mosaic
205705003	Additional sex chromosome
205706002	Sex chromosome mosaicism
205707006	Mosaic XO/XY
205708001	Mosaic XO/XX
205709009	Mosaic XY/XXY
205710004	Mosaic including XXXXY
205718006	Chimera 46, XX; 46, XY
205719003	46, XX true hermaphrodite
205720009	Fragile X chromosome
205736006	Mis-shapen spleen
205744006	Congenital cyst of adrenal gland
205749001	Congenital absence of pituitary gland
205750001	Accessory pituitary gland
205757003	Aberrant parathyroid gland
205768003	Complete situs inversus with dextrocardia
205769006	Situs inversus with levocardia
205771006	Craniopagus frontalis
205774003	Craniopagus parasiticus
205797000	Congenital malformation syndromes affecting facial appearance
205798005	Cyclopia
205800003	Gorlin-Chaudhry-Moss syndrome
205802006	Oculo-palato-digital syndrome
205808005	Congenital malformation syndromes associated with short stature
205812004	Congenital malformation syndromes involving limbs
205817005	Aglossia-adactyly syndrome
205819008	Multiple pterygium syndrome
205821003	Congenital contractural arachnodactyly
205824006	Noonan's syndrome
205826008	Congenital malformation syndromes with metabolic disturbances
205828009	Biemond's syndrome
205834002	Acardia
205835001	Acephalobrachius
205836000	Acephalogaster
205837009	Acephalothorax
205838004	Congenital hemihypertrophy
206283000	Congenital staphylococcal pneumonia
206284006	Congenital group A hemolytic streptococcal pneumonia
206285007	Congenital group B hemolytic streptococcal pneumonia
206286008	Congenital Escherichia coli pneumonia
206287004	Congenital pseudomonal pneumonia
206289001	Congenital chlamydial pneumonia
206370004	Pseudomonas pyocyaneus congenital infection
206372007	Congenital viral hepatitis
206373002	Congenital hepatitis A infection
206434001	Late anemia of newborn due to isoimmunization
206529002	Congenital fecaliths causing obstruction
206586007	Congenital cardiac failure
206588008	Congenital hypertonia
20756002	Adult hypophosphatasia
20766005	Ehlers-Danlos syndrome, type 2
208008	Neurocutaneous melanosis sequence
20815007	Exstrophy of cloaca sequence
20834007	Congenital cubitus varus
20852007	Romano-Ward syndrome
20900005	Nonfamilial asexual dwarfism
20919000	Congenital liver grooves
20944008	Congenital postural scoliosis
20948006	Congenital anomaly of finger
2107001	Anisomelia
21086008	Cockayne syndrome
2111000119106	Congenital glenoid dysplasia
21111006	Complete trisomy 13 syndrome
21234008	Congenital stenosis of aorta
21279007	Lingual thyroid
21321009	Ambiguous genitalia
21346009	Double uterus affecting pregnancy
21367009	Autosomal dominant variant form of albumin
21412009	X chromosome-linked pyridoxine refractory sideroblastic anemia
21508001	Complete trisomy 14 syndrome
21527007	Chronic granulomatous disease, type IV
21530000	Cephalothoracopagus
21565000	Accessory broad ligament
215677009	Congenital hypothyroidism with ectopic thyroid
21590003	Congenital zonular cataract
21634003	Borjeson-Forssman-Lehmann syndrome
2167004	Retinal hemangioblastomatosis
21764004	Renal carnitine transport defect
217710005	Congenital iodine deficiency syndrome
218728005	Interrupted aortic arch
21877004	Osler hemorrhagic telangiectasia syndrome
21893008	Manus valga
21905007	Congenital anomaly of middle ear
21926007	Pili annulati
21981000	Single coronary artery
21995002	Natal tooth
21998000	Robert's pelvis
22006008	Hypertelorism
22053006	Klinefelter syndrome
22062008	X-linked glutaric aciduria, type 2
22099008	Congenital valgus deformity of foot
2213002	Congenital anomaly of vena cava
22133005	Congenital anomaly of the peripheral nervous system
22138001	Congenital absence of ear lobe
22199006	Nail-patella syndrome
2229005	Chimera
22301000119102	Congenital positional plagiocephaly
223726008	Pachydermoperiostosis of nail
22406001	Severe combined immunodeficiency due to absent lymphoid stem cells
2241003	X-linked absence of thyroxine-binding globulin
22421007	Congenital absence of bladder
22471005	Hemispheric cerebellar agenesis
22497004	9q partial trisomy syndrome
22504001	Uterus bilocularis
22558005	Iodide transport defect
22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
22589009	Congenital absence of salivary gland
22660004	Atretocephalus
227035005	21q partial distal trisomy syndrome
22750001	Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava
22764001	Metatropic dysplasia
228050004	21q partial trisomy syndrome
22830006	Juvenile nephropathic cystinosis
22841008	Phocomelia
22845004	Congenital septation of gallbladder
22868008	Longitudinal deficiency of phalanges of hand
22886006	Glutaric aciduria, type 2
22933009	Glucose-6-phosphate dehydrogenase deficiency class I variant anemia
22935002	Congenital erythropoietic porphyria
229748008	Congenital auditory imperception
229815001	Internal malleolar torsion
229816000	External malleolar torsion
229845003	Congenital forefoot varus
229846002	Congenital rearfoot varus
229847006	Plantarflexed cuboid
230152000	Late congenital syphilitic meningitis
23024003	Macrogyria
230260007	Pure hereditary spastic paraplegia
230261006	Complicated hereditary spastic paraplegia
230263009	Autosomal dominant spastic paraplegia type 17
230502003	Congenital anosmia
230504002	Tilted optic disc
230506000	Myelinated nerve fibers of optic disc
230529008	Congenital failure of eye elevation
230530003	Congenital nuclear ophthalmoplegia
230541001	Congenital disorder of facial nerve
230542008	Congenital facial nerve palsy
230552007	X-linked hereditary motor and sensory neuropathy
230560008	Congenital polyneuropathy
230561007	Congenital neuropathy with arthrogryposis multiplex congenita
230562000	Congenital hypomyelinating neuropathy
230563005	Late congenital syphilitic polyneuropathy
23061007	Congenital anomaly of cricoid cartilage
23063005	Congenital atresia of mitral valve
230670003	Familial infantile myasthenia
230671004	Acetylcholine resynthesis deficiency
230672006	Congenital myasthenic syndrome
230673001	Congenital end-plate acetylcholine receptor deficiency
230677000	Congenital end-plate acetylcholinesterase deficiency
230779009	Congenital spastic foot
230784003	Congenital pseudobulbar palsy
230785002	Congenital dysarthria
230786001	Congenital dysphasia
230787005	Congenital expressive dysphasia
230788000	Congenital receptive dysphasia
230794008	Neuronal choristoma
231250005	Congenital talipes calcaneus
23150001	Proteus syndrome
23156007	Mild maple syrup urine disease
231933003	Lattice corneal dystrophy, isolated form
231985001	Rubella retinopathy
232057003	Usher syndrome type 1
232058008	Usher syndrome type 2
232059000	Laurence-Moon syndrome
232061009	Congenital stationary night blindness
232074003	Congenital hypertrophy of retinal pigment epithelium
232112009	Strabismus fixus
232113004	Vertical retraction syndrome
232134006	Congenital axial myopia
232148006	Congenital color blindness
232217008	Congenital deformity of pinna
232262007	Congenital cholesteatoma
232298004	Structural anomaly of the cochlea and vestibular labyrinth
232299007	Aplasia of the cochlea and vestibular labyrinth
232300004	Congenital deformity of labyrinth
232301000	Incomplete formation of the bony cochlea
232302007	Mondini defect
232335002	Earpit syndrome
232373003	Choanal atresia with radial ray hypoplasia
232374009	Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association
23238000	Common variable agammaglobulinemia
232381002	Agenesis of nasal cartilages
232384005	Median nasal dermoid fistula
232412004	Bifid epiglottis
232441008	Congenital vocal cord palsy
232442001	Congenital laryngeal abductor palsy
232443006	Congenital laryngeal adductor palsy
232461002	Congenital cleft larynx
23269001	Double heterozygous sickling disorder
23359005	Multiple malformation syndrome with facial-limb defects as major feature
233627004	Congenital cystic bronchiectasis
233646003	Congenital chylothorax
233663004	Primary ciliary dyskinesia due to transposition of ciliary microtubules
233664005	Immotile cilia syndrome due to defective radial spokes
233666007	Young's syndrome
233667003	Rutland ciliary disorientation syndrome
23371004	Epsilon gamma delta beta thalassemia
233718008	Pulmonary tuberous sclerosis
233720006	Pulmonary lipid storage disease
233779005	Congenital tracheal fistula
233862006	Calcific aortic stenosis - bicuspid valve
233902009	Congenital His bundle tachycardia
23402009	Congenital stricture of ureterovesical orifice
23407003	Congenital pes planus
234095009	Lymphatic malformation
234118009	Capillary malformation
234119001	Arterial malformation
234122004	Persistence of primitive artery
234123009	Persistent cerebral embryonic artery
234125002	Venous valvular anomaly
234126001	Deep vein aplasia
234127005	Deep vein hypoplasia
234129008	True congenital varicose veins
234131004	Splenoportal vascular anomaly
234132006	Congenital abnormality of great veins and coronary sinus
234133001	Capillary-venous malformation
234134007	Venous-lymphatic malformation
234136009	Capillary-venous-lymphatic malformation
234138005	Bannayan syndrome
234139002	Vascular neurocutaneous syndrome
234141001	Congenital arteriovenous malformation
234142008	Cerebral arteriovenous malformation
234143003	Parkes Weber syndrome
234146006	Hennekam lymphangiectasia-lymphedema syndrome
234147002	Arteriovenous angioma
234148007	Congenital arteriovenous fistula
234149004	Congenital arteriovenous fistula of brain
234150004	Congenital arteriovenous fistula occlusion
234151000	Congenital arteriovenous fistula stenosis
234152007	Congenital arteriovenous fistula thrombosis
234153002	Congenital arteriovenous fistula infection
234154008	Congenital arteriovenous fistula aneurysm
234155009	Congenital arteriovenous fistula hemorrhage
234156005	Congenital arteriovenous fistula rupture
234157001	Arteriovenous-lymphatic malformation
234158006	Specific mixed vascular syndrome
234159003	Multiple dysplasia syndrome
234160008	Weber's true diffuse phlebarteriectasis
234353009	Congenital transferrin deficiency
234361004	Congenital deficiency of intrinsic factor
234362006	Biermer's congenital pernicious anemia
234383000	Homozygous alpha thalassemia
234385007	Alpha thalassemia-2 trait
234386008	Hemoglobin Constant Spring trait
234387004	Hemoglobin Lepore trait
234388009	Delta-beta-Lepore thalassemia
234389001	Alpha-beta thalassemia
234390005	Gamma thalassemia
234391009	Sickle cell anemia with high hemoglobin F
234392002	Hemoglobin E/beta thalassemia disease
234395000	Congenital methemoglobinaema with defective methemoglobin-reducing system
234396004	Congenital methemoglobinemia with abnormal methemoglobins
234410008	Hereditary elliptocytosis with transient poikilocytosis
234444001	Congenital factor IX deficiency variant
234445000	Congenital factor IX deficiency with inhibitor
234446004	Congenital von Willebrand's disease
234447008	Congenital von Willebrand's disease type I
234448003	Congenital von Willebrand's disease type II
234450006	Congenital von Willebrand's disease type III
234456000	Congenital fibrinogen abnormality
234458004	Hypodysfibrinogenemia
234459007	Alpha chain defect dysfibrinogenemia
234460002	Beta chain defect dysfibrinogenemia
234461003	Gamma chain defect dysfibrinogenemia
234474009	Dense body defect
234501002	Epidermoid cyst of spleen
234533006	X-linked agammaglobulinemia with growth hormone deficiency
234534000	Autosomal agammaglobulinemia with absent B-cells
234570002	Severe combined immunodeficiency with maternofetal engraftment
234571003	Warts, hypogammaglobulinemia, infections, and myelokathexis
234582006	Leukocyte adhesion deficiency - type 1
234583001	Leukocyte adhesion deficiency - type 2
234954009	Supernumerary cusp
234955005	Talon cusp
234961008	Amelogenesis imperfecta - hypoplastic autosomal dominant - local
234962001	Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth
234963006	Amelogenesis imperfecta - hypoplastic autosomal dominant - rough
234964000	Amelogenesis imperfecta - recessive - rough
234965004	Amelogenesis imperfecta - hypomaturation - recessive pigmented
234966003	Amelogenesis imperfecta - hypomaturation - snow capped teeth
234988003	Lateral radicular cyst
23501004	Arginase deficiency
235110008	Odontogenic cyst
235111007	Glandular odontogenic cyst
235112000	Inflammatory odontogenic cyst
23512004	Atresia of salivary duct
235143007	Midline sinus of the upper lip
23536000	Iodotyrosyl coupling defect
23544000	Congenital stenosis of vagina
2355008	Rud's syndrome
235640006	Tracheoesophageal fistula without atresia of esophagus
23568008	Metatarsus adductus
235729009	Congenital microvillous atrophy
235730004	Familial absence of villi
235812003	Malrotation of the intestine type IA
235813008	Malrotation of the intestine type IIA
235814002	Malrotation of the intestine type IIB
235815001	Malrotation of the intestine type IIC
235816000	Malrotation of the intestine type IIIA
235817009	Malrotation of the intestine type IIIB
23585005	Disorder of lysosomal enzyme
235898000	Pericellular fibrosis of congenital syphilis
235908005	Glycogen storage disease type IX
235913009	Congenital disorder of gallbladder and biliary tract
235916001	Ichthyosis congenita with biliary atresia
235961002	Polycystic disease of pancreas
235977001	Congenital malformation of pancreas
236033001	Congenital umbilical defect
23610003	Anonychia
236383002	Familial mesangial sclerosis
236384008	Congenital nephrotic syndrome with focal glomerulosclerosis
236385009	Drash syndrome
236443009	Medullary sponge kidney
236466005	Congenital Fanconi syndrome
236482006	Inherited renal tubule insufficiency with cholestatic jaundice
236492003	Congenital renal artery aneurysm
236529001	Prune belly syndrome with pulmonic stenosis, mental retardation and deafness
236530006	Pulmonic stenosis and congenital nephrosis
236533008	Ochoa syndrome
236615008	Primary vesicoureteric reflux
236705005	Derodidymis
236759008	Congenital familial idiopathic priapism
236779000	Congenital abnormality of scrotum
236780002	Bifid scrotum
23678004	Congenital pyloric antral membrane
236790005	Congenital male infertility
236791009	Male infertility of chromosomal origin
236793007	Azoospermia with absent vasa in association with cystic fibrosis trait
236794001	Male infertility of developmental origin
236796004	Hypogonadism with prune belly syndrome
236798003	Androgen resistance - infertile male
236799006	Congenitally impaired spermatogenesis
236800005	Primary spermatogenic failure
236803007	Oligosynaptic infertility
236805000	Congenital impairment of sperm motility
236806004	Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid
236807008	Congenital obstructive azoospermia
23686004	Ring chromosome 20 syndrome
237219002	Bicornuate uterus complicating postpartum care - baby delivered during previous episode of care
237220008	Bicornuate uterus complicating antenatal care, baby not yet delivered
237221007	Bicornuate uterus - baby delivered with postpartum complication
237223005	Bicornuate uterus - baby delivered
237224004	Bicornuate uterus affecting obstetric care
237225003	Bicornuate uterus in pregnancy, childbirth and the puerperium
237227006	Congenital heart disease in pregnancy
237513002	Congenital anomaly of bone and joint
237515009	Congenital hypothyroidism without goiter
237516005	Congenital thyroid hypoplasia
237517001	Congenital atrophy of thyroid
237554005	Familial dyshormonogenetic goiter
237555006	Hypothyroidism due to iodide trapping defect
237556007	Hypothyroidism due to iodide organification defect
237559000	Thyroid hormone resistance syndrome
237560005	Generalized thyroid hormone resistance
237565000	Congenital iodine deficiency syndrome - mixed type
237566004	Congenital iodine deficiency syndrome - neurological type
237606005	Hereditary benign acanthosis nigricans with insulin resistance
237616002	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities
237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
237749004	Virilization-adrenogenital syndrome
237750004	Pseudohermaphrodite, female with adrenocortical disorder
237751000	Congenital adrenal hyperplasia
237753002	Salt-losing congenital adrenal hyperplasia
237754008	Late onset congenital adrenal hyperplasia
237755009	Congenital adrenal hyperplasia - desmolase deficiency
237764004	Congenital adrenal hypoplasia, X-linked
237830009	Ectopic parathyroid hormone-related protein secretion
237888005	Hypophosphatemic rickets with nephrotic-glycosuric dwarfism
237889002	Autosomal dominant hypophosphatemic rickets
237890006	Autosomal dominant hypophosphatemic bone disease
237894002	Vitamin D-dependent rickets type II with alopecia
237895001	Vitamin D-dependent rickets type II without alopecia
237918004	Klein-Waardenberg's syndrome
237919007	Minimal pigment oculocutaneous albinism
237920001	Temperature-sensitive oculocutaneous albinism
237945003	Complete deficiency of methylmalonyl-coenzyme A mutase
237946002	Partial deficiency of methylmalonyl-coenzyme A mutase
237960000	D-2-hydroxyglutaric aciduria
237961001	L-2-hydroxyglutaric aciduria
237964009	Glycogen synthase deficiency
237965005	Phosphate transport defect
237966006	Glucose transport defect
237981000	Disorder of pyruvate metabolism and mitochondrial respiratory chain
237982007	Lactate dehydrogenase deficiency
237983002	Fumarase deficiency
237984008	Neurogenic muscle weakness, ataxia and retinitis pigmentosa
237985009	Pearson's syndrome
237986005	Disorder of mitochondrial respiratory chain complexes
237987001	Deficiency in enzyme complexes of mitochondrial respiratory chain
237988006	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
237989003	Succinate-coenzyme Q reductase deficiency
237990007	Ubiquinone dehydrogenase deficiency
237993009	Combined complex deficiencies
237994003	Deletion and duplication of mitochondrial deoxyribonucleic acid
237995002	Depletion of mitochondrial deoxyribonucleic acid
237996001	Long chain acyl-coenzyme A dehydrogenase deficiency
237997005	Very long chain acyl-coenzyme A dehydrogenase deficiency
237998000	Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
237999008	Mitochondrial trifunctional protein deficiency
238000002	Combined deficiency of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and enoyl-coenzyme A hydratase
238001003	Carnitine palmitoyltransferase I deficiency
238002005	Carnitine palmitoyltransferase II deficiency
238003000	Carnitine acylcarnitine translocase deficiency
238004006	Succinyl-coenzyme A acetoacetate transferase deficiency
238018004	Total hexosaminidase deficiency - infantile
238019007	Total hexosaminidase deficiency - juvenile
238020001	Total hexosaminidase deficiency - adult
238021002	B variant hexosaminidase A deficiency - infantile
238022009	B variant hexosaminidase A deficiency - juvenile
238023004	B variant hexosaminidase A deficiency - adult
238024005	B1 variant hexosaminidase A deficiency
238025006	GM1 gangliosidosis
238026007	Infantile GM1 gangliosidosis
238027003	Adult GM1 gangliosidosis
238043005	Disorder of glycosaminoglycan metabolism
238044004	Mucopolysaccharidosis type IVB
238045003	Disorder of glycoprotein metabolism
238047006	Beta-D-mannosidosis
238048001	Alpha-N-acetylgalactosaminidase deficiency
238049009	Carbohydrate-deficient glycoprotein syndrome
238050009	Disorder of sialic acid metabolism
238051008	Sialuria
238053006	Homozygous erythropoietic protoporphyria
238059005	Disorder of peroxisomal function
238060000	General loss of peroxisomal function
238061001	Neonatal adrenoleucodystrophy
238062008	Infantile Refsum's disease
238063003	Loss of multiple peroxisomal functions
238064009	Zellweger's-like syndrome
238065005	Pseudoinfantile Refsum's disease
238066006	Loss of single peroxisomal function
238067002	Peroxisomal thiolase deficiency
238068007	Bifunctional peroxisomal enzyme deficiency
238069004	Acyl-coenzyme A oxidase deficiency
238070003	Glutaryl-coenzyme A oxidase deficiency
238071004	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia
238072006	Isolated dihydroxyacetone phosphate acyltransferase deficiency
238073001	Isolated alkyldihydroxyacetone phosphate synthase deficiency
238074007	Xanthomatosis, familial
238093009	Familial hypobetalipoproteinemia - homozygous form
238094003	Familial hypobetalipoproteinemia - heterozygous form
23817003	Levy-Hollister syndrome
23849003	Sandhoff disease
238627002	Follicular ichthyosis
238736006	Clastothrix
23876003	Congenital dislocation of shoulder
238798005	Simple lymphangioma
238799002	Lymphangioma circumscriptum
238800003	Diffuse lymphangioma
23880008	Congenital anomaly of peripheral nerve
238803001	Oral lymphangioma
238804007	Systemic lymphangiomatosis
238851009	Extensive congenital erosions, vesicles and reticulate scarring
238855000	Hereditary camptodactyly
238861002	Juvenile hyaline fibromatosis
238866007	Juvenile elastofibromatosis
238870004	Hutchinson-Gilford syndrome
238871000	Metageria
238872007	Acrogeria
238874008	Neonatal pseudo-hydrocephalic progeroid syndrome
238875009	Wrinkly skin syndrome
238904008	Congenital diffuse lipomatosis
238905009	Encephalocraniocutaneous lipomatosis
239001006	Genodermatosis
239006001	Ectodermal dysplasia with hair-tooth-nail-sweating defect
239007005	Hypohidrotic X-linked ectodermal dysplasia
239009008	Roselli-Gulienetti ectodermal dysplasia
239010003	Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia
239011004	Basan syndrome
239012006	Greither type of ectodermal dysplasia
239013001	Anonychia with bizarre flexural pigmentation
239014007	Tricho-onychodental dysplasia
239015008	Ectodermal dysplasia with hair-tooth-nail defects
239018005	Schoepf-Schulz-Passage syndrome
239019002	Odonto-onychial dysplasia with alopecia
239020008	Fried's tooth and nail syndrome
239021007	Hypodontia and nail dysgenesis
239022000	Dermodental dysplasia
239023005	Salamon's syndrome
239024004	Ectodermal dysplasia, syndactyly and pili torti
239025003	Dwarfism, alopecia, pseudoanodontia, cutis laxa
239026002	Hypohidrosis-diabetes insipidus syndrome
239027006	Ectodermal dysplasia with hair-tooth defects
239028001	Odontotrichomelic syndrome
239030004	Orofacial-digital syndrome III
239031000	Orofacial-digital syndrome IV
239032007	Berlin syndrome
239035009	Ectodermal dysplasia with hair-nail defect
239036005	Tricho-oculodermovertebral syndrome
239037001	Curly hair, ankyloblepharon, nail dysplasia syndrome
239038006	Kirman syndrome
239040001	Ectodermal dysplasia with tooth-nail defects
239041002	Dento-oculocutaneous syndrome
239042009	Ectodermal dysplasia with tooth-sweating defect
239043004	Sandman-Andra syndrome
239046007	Ectodermal dysplasia with nail defect
239048008	Ectodermal dysplasia with sweating defect
239049000	Hypohidrosis with neurolabyrinthitis
239050000	Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections
239053003	Multiple benign annular creases of extremities
239054009	Reticulate pigmented anomaly of flexures
239055005	Hereditary clubbing
239056006	Flynn-Aird syndrome
239057002	Cutaneous syndrome with ichthyosis
239059004	Keratitis ichthyosis and deafness syndrome
239060009	Atypical ichthyosis vulgaris with hypogonadism
239068002	Autosomal dominant mutilating keratoderma
239072003	Congenital palmoplantar and perioral keratoderma of Olmsted
239074002	Keratoderma with pachyonychia congenita
239076000	Keratoderma with scleroatrophy of the extremities
239079007	Inherited cutaneous hyperpigmentation
239082002	Dyschromatosis universalis
239084001	Naegeli-Franceschetti-Jadassohn syndrome
239085000	Symmetrical dyschromatosis of extremities
239088003	Dermatopathia pigmentosa reticularis
239089006	Acromelanosis
2391001	Achondrogenesis
239127008	Hair follicle nevus
239133004	Reticulate acropigmentation of Kitamura
23914009	Ectopic splenic tissue
239144007	Congenital erector pili hamartoma
239145008	Diffuse smooth muscle hamartoma
239152005	Congenital absence of skin on scalp
239153000	Congenital absence of skin on scalp with epidermal nevi
23931000119104	Hydrocephalus due to Arnold Chiari malformation type 2
23939000	Imperfect fusion of skull
23941000119108	Arnold Chiari type 2 without hydrocephalus
23971000119101	Congenital lumbar spondylolisthesis
240047005	X-linked muscular dystrophy with limb girdle distribution
240048000	X-linked muscular dystrophy with abnormal dystrophin
240049008	Intermediate X-linked muscular dystrophy
240050008	Manifesting female carrier of X-linked muscular dystrophy
240051007	X-linked limb girdle muscular dystrophy with normal dystrophin
240052000	Ji muscular dystrophy
240053005	Hereditary myopathy limited to females
240055003	Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
240058001	Reunion-Indiana Amish type muscular dystrophy
240060004	Western type of congenital muscular dystrophy
240061000	Congenital muscular dystrophy with arthrogryposis multiplex congenita
240062007	Ullrich congenital muscular dystrophy
240063002	Eichsfeld type congenital muscular dystrophy
240064008	Hutterite type of muscular dystrophy
240071003	X-linked muscular dystrophy not predominantly limb girdle
240072005	Benign scapuloperoneal muscular dystrophy with cardiomyopathy
240073000	Autosomal recessive muscular dystrophy not predominantly limb girdle
240074006	Scapulohumeral muscular dystrophy
240075007	Autosomal dominant muscular dystrophy not predominantly limb girdle
240076008	Benign scapuloperoneal muscular dystrophy
240078009	Benign congenital muscular dystrophy with finger flexion contractures
240080003	Benign congenital hypotonia
240081004	Autosomal recessive centronuclear myopathy
240082006	Myopathy with abnormality of histochemical fiber type
240083001	Myopathy with type I hypotrophy
240084007	Congenital myopathy with fiber type disproportion
240085008	Congenital myopathy with uniform fiber type
240086009	Myopathy with cytoplasmic inclusions
240087000	Myopathy with tubular aggregates
240095001	Lipid storage myopathy
240104008	Congenital myotonic dystrophy
240156000	Juvenile idiopathic generalized osteoporosis
240487007	Congenital parvoviral infection
240551003	Chronic congenital cytomegalic inclusion disease
240554006	Hutchinson's triad
240669002	Congenital Lyme disease
24140005	Median mandibular cyst
24194000	Complete bilateral cleft palate
24210004	Congenital chorioretinal degeneration
24269006	Distal arthrogryposis syndrome
24291004	Congenital dilatation of colon
24297000	Xiphopagus
24308003	Cystathionine beta-synthase deficiency
24358005	Accessory thymic tissue
2438005	Iniencephaly
24412005	Congenital secretory diarrhea, chloride type
24533004	Thoracodelphus
24559001	Mutilating keratoderma
24606006	Accessory eyelid
24614000	Laterality sequence
24629003	Metaphyseal chondrodysplasia, Jansen type
24661004	Glucose-6-phosphate dehydrogenase deficiency class III variant anemia
24663001	von Willebrand disease, type IIH
24679000	Thoracopagus parasiticus
247127002	Retinal arteriovenous shunt
247204001	Morning glory disc
247209006	Optic disc vascular anomaly
247476001	Raised birthmark
247477005	Flat birthmark
24750000	Townes syndrome
24752008	Infantile cortical hyperostosis
24786004	7p partial monosomy syndrome
24787008	Congenital absence of broad ligament
24814002	Potter's facies
248845002	Septate hymen
24897005	Congenital postural lordosis
249491000119100	Structural developmental anomalies of neurenteric canal
2495006	Congenital cerebral arteriovenous aneurysm
24963004	Congenital anomaly of sternocleidomastoid muscle
25010000	Benign adult cystinosis
250591000119109	Salt-losing congenital adrenal hyperplasia with virilism
25065001	Hemoglobin E disease
250941001	Right ventricular fibromuscular infundibular stenosis
250942008	Right ventricular muscular infundibular stenosis
250983006	Bicuspid doming of aortic cusp
251038002	Aortic root congenital abnormality
25129008	Hydromeningocele
25148007	Congenital absence of uvula
251729009	Congenital malformation of angle of anterior chamber of eye
251730004	Goniodysgenesis
251731000	Barkan membrane
25201000119104	Transitional lumbosacral vertebra
253098009	Neural tube defect
253101008	Congenital cerebral hernia
253103006	Frontal encephalocele
253104000	Frontoethmoidal encephalocele
253106003	Nasofrontal encephalocele
253107007	Nasopharyngeal encephalocele
253108002	Temporal encephalocele
253109005	Parietal encephalocele
253111001	Thoracolumbar spina bifida without hydrocephalus - closed
253113003	Rachischisis with hydrocephalus
253114009	Myelocele with hydrocephalus
253115005	Hydromyelocele with hydrocephalus
253117002	Closed spina bifida with Arnold-Chiari malformation
253118007	Thoracolumbar spina bifida with hydrocephalus - closed
253119004	Hemimyelocele
253120005	Lipomeningocele
253124001	Myelodysplasia of spinal cord
253125000	Spinal hamartoma
253128003	Abnormality of neurogenesis
253135006	Defect of telencephalic division
253136007	Lobar holoprosencephaly
253137003	Alobar holoprosencephaly
253138008	Semi-lobar holoprosencephaly
253139000	Agenesis of corpus callosum with lipoma
253140003	Partial agenesis of corpus callosum
253143001	Absence of septum pellucidum
253145008	Reduction anomaly of hypothalamus
253146009	Disorder of neuronal migration and differentiation
253147000	Type 1 lissencephaly
253148005	Miller Dieker syndrome
253149002	Type 2 lissencephaly
253150002	Neuronal heterotopia
253151003	Nodular heterotopia
253152005	Laminar heterotopia
253153000	Cortical dysplasia
253154006	Localized cortical dysplasia
253156008	Cortical dysplasia with hemimegalencephaly
253158009	Hydranencephaly with proliferative vasculopathy
253159001	Schizencephaly
253160006	Colpocephaly
253166000	Lateral meningocele
253167009	Microdysgenesis
253168004	Familial megalencephaly
253169007	Sporadic megalencephaly
253170008	Hemimegalencephaly
253171007	Dysgenesis of the cerebellum
253172000	Agenesis of cerebellum
253174004	Aplasia of the vermis
253175003	Familial aplasia of the vermis
253176002	Gillespie syndrome
253178001	Granular cell hypoplasia
253179009	Cerebellar cortical dysplasia
253180007	Dysgenesis of the brainstem
253181006	Olive dysplasia
253182004	Dentate dysplasia
253183009	Olivary heterotopia
253184003	Chiari malformation
253185002	Chiari malformation type I
253186001	Chiari malformation type III
253187005	Chiari malformation type IV
253188000	Abnormality of canalization and retrogressive differentiation
253189008	Sacral dysgenesis
253190004	Lumbosacral agenesis
253192007	Fibrolipoma of filum terminale
253193002	Vascular malformation of the nervous system
253195009	Persistent embryonic trigeminal artery
253196005	Persistent embryonic otic artery
253197001	Persistent embryonic hypoglossal artery
253198006	Persistent embryonic proatlantal intersegmental artery
253199003	Congenital malformation of the meninges
253203003	Hypoplasia of brain gyri
253204009	Congenital malformation of eye, ear and neck
253205005	Congenital blocked tear duct
253206006	Congenital malformation of the eyebrow
253207002	Synophrys
253208007	Absent eyebrow
253209004	Double eyebrow
253212001	Epiblepharon
253213006	Congenital ankyloblepharon
253214000	Congenital distichiasis
253215004	Alacrima
253217007	Imperforate lacrimal punctum
253218002	Supernumerary lacrimal punctum
253219005	Agenesis of nasolacrimal duct
253220004	Congenital lacrimal fistula
253221000	Lenticonus
253223002	Congenital polar cataract
253224008	Congenital anterior polar cataract
253225009	Congenital posterior polar cataract
253226005	Congenital sutural cataract
253227001	Rubella cataract
253228006	Embryotoxon
253229003	Anterior embryotoxon
253230008	Congenital anterior staphyloma
253231007	Aniridia type 1
253232000	Aniridia type 2
253233005	Pseudo-polycoria
253234004	Congenital heterochromia iridis
253235003	Congenital cyst of iris
253236002	Congenital malformation of vitreous humor
253238001	Partial hypoplasia of optic disc
253239009	Sectorial hypoplasia of optic disc
253240006	Trabecular dysgenesis
253241005	Orbital dystopia
253242003	Horizontal orbital dystopia
253243008	Vertical orbital dystopia
253244002	Rotational orbital dystopia
253247009	Congenital stricture of osseous meatus
253251006	Posteriorly rotated ear
253252004	Vulcan ear
253253009	Cat ear
253254003	Aztec ear
253255002	Simple ear
253259008	Sinus of branchial cleft
253264007	Congenital heart disease, septal and bulbar anomalies
253267000	Congenital abnormality of relationship of cardiac component
253268005	Abnormal relationship of right ventricle to left ventricle
253269002	Criss-cross heart
253270001	Abnormal relationship of aortic orifice to pulmonary orifice
253271002	Mirror-imaged heart
253272009	Congenital abnormality of cardiac connection
253274005	Abnormal atrioventricular connection
253275006	Abnormal atrioventricular connection - biventricular
253276007	Cor triloculare biventriculare
253277003	Discordant atrioventricular connection
253278008	Ambiguous atrioventricular connection
253279000	Absent atrioventricular connection with straddling valve
253280002	Abnormal atrioventricular connection - univentricular
253281003	Double inlet ventricle
253282005	Double inlet right ventricle
253283000	Double inlet left ventricle
253284006	Double inlet to ventricle of indeterminate morphology
253285007	Absent right sided atrioventricular connection
253286008	Left sided atrium connecting to left ventricle
253287004	Left sided atrium connecting to right ventricle
253288009	Left sided atrium connecting to both ventricles
253289001	Left sided atrium connecting to ventricle of indeterminate morphology
253290005	Absent left sided atrioventricular connection
253291009	Right sided atrium connecting to right ventricle
253293007	Right sided atrium connecting to both ventricles
253294001	Right sided atrium connecting to ventricle of indeterminate morphology
253295000	Abnormal ventriculoarterial connection
253297008	Transposition of aorta
253298003	Double outlet right ventricle with subaortic ventricular septal defect
253299006	Double outlet right ventricle with noncommitted ventricular septal defect
253300003	Double outlet right ventricle with doubly committed ventricular septal defect
253301004	Double outlet from ventricle of indeterminate morphology
253302006	Single outlet ventriculoarterial connection
253303001	Solitary aortic trunk with pulmonary atresia
253304007	Solitary pulmonary trunk with aortic atresia
253305008	Solitary arterial trunk
253306009	Abnormality of right superior vena cava
253307000	Atretic right superior vena cava
253308005	Absent right superior vena cava
253310007	Anomalous insertion of right superior vena cava to left atrium
253311006	Bilateral superior vena cava
253312004	Absent bridging vein
253313009	Inferior vena cava interruption with left sided hemiazygos continuation
253314003	Inferior vena cava interruption with right sided azygos continuation
253315002	Inferior vena cava interruption with bilateral azygos continuation
253316001	Abnormal inferior vena caval connection
253317005	Inferior vena cava connecting to morphological left atrium
253318000	Inferior vena cava connecting to coronary sinus
253319008	Inferior vena cava to left of spine
253320002	Inferior cava to left of spine with right descending aorta
253321003	Anomalous termination of right pulmonary vein
253324006	Coronary sinus defect in left atrium
253326008	Coronary sinus orifice atresia
253327004	Congenital coronary sinus stenosis
253329001	Ductus venosus abnormality
253330006	Patent ductus venosus
253331005	Closed ductus venosus
253333008	Abnormal connection of hepatic vein to atrium
253335001	Isomerism of atrial appendages
253336000	Isomerism of right atrial appendage
253337009	Isomerism of left atrial appendage
253338004	Mirror imaged atria
253340009	Prominent valve of inferior vena cava
253341008	Obstructive Eustachian valve
253342001	Prolapse of Eustachian valve
253343006	Anomalous valve of coronary sinus
253345004	Right atrial appendage absent
253346003	Right atrial appendage - left - juxtaposition
253348002	Right atrial endocardial fibroelastosis
253349005	Right atrial hypoplasia
253353007	Divided left atrium
253354001	Supramitral left atrial ring
253356004	Left atrial appendage absent
253357008	Left atrial appendage - right - juxtaposition
253359006	Left atrial endocardial fibroelastosis
253360001	Left atrial hypoplasia
25336002	Uterus parvicollis
253364005	Foramen ovale valvar aneurysm
253371000	Atrial septal defect through coronary sinus orifice
253373002	Atrioventricular septal defect - isolated atrial component
253374008	Congenital abnormality of atrioventricular valves in atrioventricular septal defect
253376005	Tricuspid annulus hypoplasia
253377001	Dilatation of tricuspid annulus
253378006	Overriding tricuspid valve
253379003	Straddling tricuspid valve
253381001	Absent tricuspid leaflet
253382008	Double orifice of tricuspid valve
253384009	Accessory tissue on tricuspid leaflet
253391007	Parachute malformation of tricuspid valve
253392000	Absent tricuspid papillary muscle
253393005	Fused tricuspid papillary muscle
253394004	Hypoplastic tricuspid papillary muscle
253395003	Mitral valve dysplasia
253396002	Mitral leaflet dysplasia
253397006	Overriding mitral valve
253399009	Straddling mitral valve
2534005	Congenital absence of vena cava
253403000	Ebstein-like downward displacement of mitral valve
253404006	Anterior leaflet of mitral valve attached to septum
253405007	Accessory tissue on mitral leaflet
253411005	Absent mitral papillary muscle
253412003	Fused mitral papillary muscles
253413008	Hypoplastic mitral papillary muscle
253414002	Atrioventricular septal defect and common atrioventricular junction
253415001	Atrioventricular septal defect - isolated ventricular component
253416000	Atrioventricular septal defect: atrial and ventricular components
253417009	Atrioventricular septal defect - ventricular component
253418004	Atrioventricular septal defect - ventricular component under superior bridging leaflet
253419007	Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum
253420001	Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum
253421002	Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall
253422009	Atrioventricular septal defect - ventricular component under inferior bridging leaflet
253423004	Malaligned atrial septum
253425006	Double outlet right atrium
253426007	Double outlet left atrium
253439006	True cleft of common atrioventricular valve leaflet
253441007	Double orifice of common atrioventricular valve
253450009	Parachute malformation of common atrioventricular valve
253451008	Absent common atrioventricular valve papillary muscle
253458002	Right atrioventricular valve hypoplasia
253465005	Absent right atrioventricular valve leaflets
253468007	Ebstein's anomaly of right atrioventricular valve
253479002	Parachute malformation of right atrioventricular valve
253480004	Absent right atrioventricular valve papillary muscle
253483002	Abnormality of left atrioventricular valve in double inlet ventricle
253484008	Left atrioventricular valve atresia
253485009	Imperforate left atrioventricular valve
253486005	Left atrioventricular valve dysplasia
253487001	Left atrioventricular valve hypoplasia
253489003	Overriding left atrioventricular valve
253492004	Straddling left atrioventricular valve
253493009	Left atrioventricular valve leaflet abnormality
253494003	Absent left atrioventricular valve leaflets
253495002	Double orifice of left atrioventricular valve
253496001	Ebstein's anomaly of left atrioventricular valve
253497005	Left atrioventricular valve prolapse
253498000	True cleft of left atrioventricular valve leaflet
253499008	Accessory tissue on left atrioventricular valve leaflet
253500004	Left atrioventricular valve leaflet dysplasia
253501000	Abnormality of left atrioventricular valve chordae tendinae
253502007	Left atrioventricular valve chordae too short
253503002	Left atrioventricular valve chordae too long
253504008	Left atrioventricular valve chordae to outlet septum
253505009	Arcade abnormality of left atrioventricular valve chordae
253506005	Abnormality of left atrioventricular valve papillary muscle
253507001	Parachute malformation of left atrioventricular valve
253508006	Absent left atrioventricular valve papillary muscle
253509003	Fused left atrioventricular valve papillary muscles
253510008	Hypoplastic left atrioventricular valve papillary muscle
253511007	Congenital abnormality of ventricles and ventricular septum
253512000	Tetralogy of Fallot with pulmonary stenosis
253513005	Tetralogy of Fallot with pulmonary atresia
253514004	Dextraposition of aorta in Fallot's tetralogy
253515003	Ventricular septal defect in Fallot's tetralogy
253518001	Diffuse hypoplasia of right ventricle
253519009	Hypoplasia of right ventricular inflow tract
253520003	Hypoplasia of right ventricular outflow tract
253521004	Hypoplasia of right ventricular outflow tract and trabecular area
253523001	Primary right ventricular endocardial fibroelastosis
253524007	Two chambered right ventricle
253525008	Congenital right ventricular diverticulum
253527000	Congenital right ventricular aneurysm
253529002	Right ventricular outflow tract abnormality
253533009	Right ventricular outflow tract atresia
253534003	Right ventricular outflow tract absent
253536001	Left ventricular hypoplasia
253537005	Diffuse hypoplasia of left ventricle
253538000	Hypoplasia of left ventricular inflow tract
253539008	Hypoplasia of left ventricular outflow tract
253540005	Hypoplasia of left ventricular outflow tract and trabecular area
253542002	Abnormal left ventricular muscle band
253543007	Primary left ventricular endocardial fibroelastosis
253544001	Congenital left ventricular aneurysm
253545000	Left ventricular outflow tract abnormality
253547008	Left ventricular outflow tract atresia
253548003	Indeterminate ventricular outflow tract obstruction
253550006	Multiple ventricular septal defects
253551005	Restrictive ventricular septal defect
253552003	Perimembranous ventricular septal defect with extension to right ventricular inlet
253553008	Perimembranous ventricular septal defect with extension to right ventricular trabecular component
253554002	Perimembranous ventricular septal defect with extension to right ventricular outlet
253555001	Perimembranous ventricular septal defect with extension to all right ventricular components
253556000	Ventricular septal defect with malaligned outlet septum to right
253559007	Ventricular septal defect with malaligned outlet septum to left
253562005	Ventricular septal defect with absent outlet septum and overriding truncal valve
253563000	Muscular ventricular septal defect in inlet septum
253564006	Muscular ventricular septal defect in central trabecular septum
253565007	Muscular ventricular septal defect in apical trabecular septum
253566008	Muscular ventricular septal defect in marginal septum
253567004	Muscular ventricular septal defect in outlet septum
253568009	Doubly committed subarterial ventricular septal defect
253569001	Doubly committed subarterial ventricular septal defect with membranous septum extension
253570000	Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim
253571001	Giant ventricular septal defect
253573003	Subpulmonary infundibulum
253574009	Subaortic infundibulum
253575005	Bilateral muscular infundibula
253576006	Bilateral deficient infundibula
253578007	Congenital abnormality of arterial valves
253580001	Truncal valve dysplasia
253584005	Accessory tissue on truncal valve cusp
253585006	Pulmonary valve cusp hypoplasia
253586007	Pulmonary valve ring hypoplasia
253587003	Commissural fusion of pulmonary valve
253588008	Pulmonary valve dysplasia
253591008	Pulmonary atresia with ventricular septal defect
253593006	Imperforate pulmonary valve
253596003	Absent pulmonary valve syndrome
253597007	Accessory tissue on pulmonary valve cusp
253598002	Unicuspid pulmonary valve
253599005	Bicuspid pulmonary valve
253600008	Quadricuspid pulmonary valve
253601007	Aortic valve ring hypoplasia
253602000	Commissural fusion of aortic valve
253603005	Eccentric opening of aortic valve
253607006	Hypoplasia of aortic valve cusp
253608001	Accessory tissue on aortic valve cusp
253609009	Abnormal number of aortic valve cusps
253610004	Unicuspid aortic valve
253611000	Quadricuspid aortic valve
253614008	Tubular hypoplasia of aorta
253615009	Anomalies of the aorta excluding coarction
25362006	Phytanic acid storage disease
253622001	Pulmonary trunk hypoplasia
253623006	Pulmonary trunk atresia
253624000	Pulmonary atresia with confluent pulmonary arteries
253625004	Pulmonary atresia with absent pulmonary artery
253627007	Pulmonary trunk absent with confluent pulmonary arteries
253628002	Pulmonary trunk absent with non-confluent pulmonary arteries
253629005	Pulmonary trunk absent with absent pulmonary artery
253632008	Abnormal origin of right pulmonary artery
253633003	Anomalous origin of right pulmonary artery from ductus arteriosus
253634009	Anomalous origin of right pulmonary artery from ascending aorta
253635005	Abnormal origin of left pulmonary artery
253636006	Anomalous origin of left pulmonary artery from ductus arteriosus
253637002	Anomalous origin of left pulmonary artery from ascending aorta
253638007	Anomalous origin of left pulmonary artery from right pulmonary artery
253643000	Ascending aortic atresia
253644006	Ascending aorta absent
253646008	Congenital aneurysm of ascending aorta
253649001	Aortic tunnel
253650001	Aorta to right ventricle tunnel
253652009	Right descending aorta
253653004	Left aortic arch and right descending aorta
253654005	Right aortic arch and right descending aorta
253655006	Right aortic arch and left descending aorta
253656007	Aortic arch centrally descending
253657003	Cervical aortic arch
253658008	Persisting fifth aortic arch
253660005	Double aortic arch with both patent
253663007	Vascular ring with left aortic arch
253664001	Vascular ring with right aortic arch
253667008	Aberrant retroesophageal brachiocephalic artery
253668003	Isolation of subclavian artery
253669006	Ductus arteriosus from subclavian artery
253670007	Ductus arteriosus from retroesophageal aortic diverticulum
253672004	Preductal aortic stenosis
253673009	Preductal interruption of aorta
253674003	Preductal hypoplasia of aorta
253675002	Juxtaductal aortic coarctation
253676001	Postductal aortic stenosis
253677005	Postductal interruption of aorta
253678000	Thoracic aortic coarctation
253679008	Abdominal aortic coarctation
253680006	Postductal hypoplasia of aorta
253681005	Interrupted aortic arch distal to left subclavian artery
253682003	Interrupted aortic arch between left subclavian and left common carotid artery
253683008	Interrupted aortic arch between left common carotid and brachiocephalic artery
253685001	Patent ductus arteriosus - delayed closure
253687009	Abnormal origin of ductus arteriosus
253688004	Collaterals to pulmonary arteries
253689007	Major aortopulmonary collateral artery
253690003	Systemic to pulmonary collateral artery
253691004	Stenosis of systemic to pulmonary artery collateral artery
253692006	Bronchopulmonary collateral artery
253693001	Congenital abnormalities of thoracic aortic branches
253696009	Distal origin of brachiocephalic trunk
253697000	Isolation of branch of aortic arch
253698005	Isolation of brachiocephalic trunk
253699002	Isolation of common carotid artery
253700001	Variant coronary origin from aortic sinus
253703004	Anomalous origin of coronary artery from non-facing sinus
253704005	Anomalous origin of left anterior descending from right coronary artery
253706007	Anomalous origin of coronary artery from pulmonary arterial tree
253707003	Anomalous origin of coronary artery from right pulmonary artery
253708008	Anomalous origin of coronary artery from left pulmonary artery
253710005	Coronary orifice abnormally high
253711009	Coronary orifice asymmetrical
253712002	Dual coronary orifice
253714001	Abnormal coronary artery course
253715000	Intramural coronary artery course
253716004	Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract
253717008	Coronary artery runs between aorta and pulmonary trunk
253718003	Circumflex runs posterior to pulmonary trunk
253719006	Circumflex runs posterior to aorta
253720000	Congenital coronary arteriovenous fistula
253725005	Congenital coronary artery calcification
253728007	Right dominant coronary system
253729004	Left dominant coronary system
253730009	Balanced coronary system
253731008	Partial agenesis of pericardium
253732001	Totally absent pericardium
253734000	Pericardial diverticulum
253736003	Laryngeal hypoplasia
253737007	Congenital laryngomalacia
253740007	Congenital malformation of trachea and bronchus
253741006	Congenital tracheoesophageal cleft
253742004	Primary congenital bronchomalacia
253743009	Secondary congenital bronchomalacia
253745002	Dysplasia of lung
253746001	Ectopic bone and cartilage in lung
253747005	Bronchopulmonary isomerism
253750008	Congenital malformation of tongue, mouth and pharynx
253751007	Flat palate
253752000	Lobulated tongue
253755003	Congenital malformation of salivary glands and ducts
253756002	Displacement of Wharton's duct
253757006	Accessory salivary duct
253758001	Congenital palatoesophageal incoordination
253760004	Congenital esophageal ring
253764008	Congenital absence, atresia and stenosis of small intestine
253767001	Congenital functional disorders of the small intestine
253768006	Congenital dysmotility of small intestine
253769003	Congenital stenosis of colon
253770002	Congenital stenosis of appendix
253771003	High anorectal malformation
253772005	Low anorectal malformation
253773000	Congenital fistula of rectum
253774006	Congenital fistula of anus
253778009	Congenital functional disorders of the colon
253780003	Total colonic aganglionosis
253781004	Megacystis, microcolon, hypoperistalsis syndrome
253782006	Small left colon syndrome
253783001	Neuronal intestinal dysplasia
253784007	Hyperganglionosis
253785008	Generalized congenital intestinal dysmotility
253786009	Congenital volvulus
253789002	Familial intestinal malrotation
253791005	Congenital blind loop syndrome
253792003	Congenital diverticulosis
253793008	Congenital redundant rectal mucosa
253794002	Congenital redundant colon
253795001	Enteric duplication
253796000	Jejunum duplex
253797009	Ileum duplex
253799007	Partial duplication of appendix
253800006	Complete duplication of appendix
253801005	Triplication of appendix
253802003	Embryonic cyst of mesentery
253804002	Biliary anomalies
253806000	Aplasia of gallbladder
253807009	Intrahepatic biliary atresia
253808004	Congenital kink of cystic duct
253811003	Abnormal liver lobulation
253812005	Trilobular liver
253813000	Ectopic liver
253814006	Focal nodular hypoplasia of liver
253815007	Pancreatic duct anomaly
253817004	Congenital absent hemidiaphragm - bilateral
253818009	Congenital malformation of anterior abdominal wall
253822004	Congenital torsion of ovary
253823009	Embryonic cyst of ovary
253825002	Congenital hydrosalpinx
253826001	Embryonic cyst of broad ligament
253827005	Congenital malformation of uterus and cervix
253828000	Mullerian aplasia
253829008	Solid rudimentary uterus
253832006	Hypoplasia of uterus and cervix
253833001	Embryonic cyst of cervix
253834007	Agenesis of lower vagina
253835008	Atresia of lower vagina
253836009	Hypoplasia of vagina
253837000	Congenital urethrovaginal fistula
253838005	Congenital absence of labium minor
253839002	Congenital absence of labium major
253840000	Duplication of external genitalia
253842008	Congenital malformation of clitoris
253843003	Hooded clitoris
253844009	Duplication of clitoris
253845005	Maldescent of testis, bilateral
253849004	Congenital buried penis
253851000	Diphallus
253852007	Webbed penis
253854008	Congenital phimosis
253855009	Short preputial frenulum
253856005	Congenital parameatal cyst
253857001	False hermaphrodite
253859003	Congenital malformation of the urinary system
253860008	Pyelon triplex
253862000	Trifid kidney
253864004	Familial hypoplastic, glomerulocystic kidney
253865003	Crossed ectopia of kidney, without fusion
253866002	Crossed ectopia of kidney with fusion anomaly
253867006	Thoracic kidney
253869009	Cake kidney
253872002	Bifid kidney
253873007	Duplex kidney with reflux in one ureter
253874001	Duplex kidney with reflux in both ureters
253875000	Congenital calyceal diverticulum
253878003	Adult type polycystic kidney disease type 1
253879006	Adult type polycystic kidney disease type 2
253880009	Autosomal dominant polycystic kidney disease in childhood
253884000	Medullary sponge kidney with nephrocalcinosis
253885004	Medullary sponge kidney without nephrocalcinosis
253886003	Congenital obstructive defect of renal pelvis
253887007	Congenital ureteric valves
253888002	Triplex ureter
253890001	Crossed ectopic ureter
253891002	Transcaval ureter
253892009	Congenital diverticulum of ureter
253893004	Congenital polyp of ureter
253894005	Ectopic ureterocele
253897003	Congenital vesicoureterorenal reflux, bilateral
253899000	Urachal diverticulum
253900005	Congenital posterior urethral valves
253901009	Congenital urethral posterior valvular stricture
253902002	Atresia of urethra
253903007	Congenital short urethra
253904001	Megacystis-megaureter syndrome
253905000	Megalourethra
253906004	Congenital urethral syringocele
253907008	Congenital anterior urethral valve
253909006	Congenital gastrointestinal-urinary tract fistula
253916007	Aberrant muscle of the upper limb
253917003	Failure of differentiation of bones of forearm
253918008	Duplication of upper limb
253919000	Duplication of whole upper limb
253920006	Overgrowth of upper limb
253924002	Acrosyndactyly of the thumb
253925001	Acrosyndactyly of the fingers
253926000	Phocomelia of upper limb
253929007	Hypoplasia of upper limb
253932005	Brachysyndactyly of thumb
253933000	Macrodactyly of thumb
253936008	Hypoplasia of thumb
253937004	Congenital abnormality of lower limb and pelvic girdle
253939001	Duplication of whole lower limb
253940004	Duplication of femur
253941000	Duplication of tibia
253942007	Duplication of fibula
253943002	Duplication of tarsal bone
253944008	Duplication of the whole foot
253945009	Congenital overgrowth of partial lower limb
253946005	Congenital undergrowth of partial lower limb
253947001	Congenital leg bone bowing
253953001	Dislocatable hip
253954007	Subluxatable hip
253955008	Congenital deformity of foot and ankle
253958005	Congenital metatarsus valgus
253959002	Hypoplasia of lower limb
253961006	Transverse deficiency of toe
253963009	Phocomelia of the lower limb
253965002	Agenesis of multiple metatarsal bones
253966001	Congenital abnormality of foot and toes
253967005	Mesoaxial polydactyly of toe
253968000	Simple syndactyly of toes second to fourth web
253969008	Osseous syndactyly of toes second to fourth web
25397008	Aqueduct of Sylvius anomaly
253971008	Bifid digit
253972001	Syndactyly of the thumb
253975004	Symphalangism
253977007	Congenital sternomastoid tumor
253979005	Skull congenital deformities
253980008	Defect of skull ossification
253984004	Bilateral complete and incomplete cleft lip
253989009	Bilateral incomplete cleft lip and alveolus
253993003	Cleft hard palate, central
253994009	Cleft hard palate, bilateral
253995005	Incomplete cleft hard and soft palate
253996006	Complete cleft hard and soft palate
253997002	Cleft of soft palate
254000002	Cleft soft palate, bilateral
254001003	Complete cleft of soft palate
254002005	Incomplete cleft of soft palate
254003000	Occult submucous cleft palate
254004006	Midline facial cleft - Tessier cleft 0
254005007	Midline facial cleft - Tessier cleft 14
254006008	Midline facial cleft - Tessier cleft 30
254007004	Paramedian facial cleft - Tessier cleft 1
254008009	Paramedian facial cleft - Tessier cleft 2
254009001	Paramedian facial cleft - Tessier cleft 3
254010006	Supraorbital facial cleft - Tessier cleft 8
254011005	Supraorbital facial cleft - Tessier cleft 9
254012003	Supraorbital facial cleft - Tessier cleft 10
254013008	Supraorbital facial cleft - Tessier cleft 11
254014002	Supraorbital facial cleft - Tessier cleft 12
254015001	Supraorbital facial cleft - Tessier cleft 13
254016000	Infraorbital facial cleft - Tessier cleft 4
254017009	Infraorbital facial cleft - Tessier cleft 5
254018004	Infraorbital facial cleft - Tessier cleft 6
254019007	Infraorbital facial cleft - Tessier cleft 7
254020001	Unicoronal craniosynostosis
254021002	Bicoronal craniosynostosis
254022009	Cloverleaf skull syndrome
254023004	Congenital abnormality of skull shape
254025006	Hemifacial microsomia
254026007	Craniofacial microsomia
254027003	Bilateral craniofacial microsomia
254033007	Congenital deformity of lumbosacral region
254034001	Congenital deformity of lumbosacral joint
254038003	Congenital absence of spine
254039006	Congenital lumbosacral fusion
254040008	Congenital sacrococcygeal anomaly
254041007	Congenital malformation of sternum
254043005	Defects of the tubular (and flat) bones and/or axial skeleton
254044004	Multiple congenital exostosis
254045003	Spondylodysplasia
254046002	Spondylodysplasia, San Diego type
254047006	Spondylodysplasia, Torrance type
254048001	Spondylodysplasia, Luton type
254049009	Schneckenbecken dysplasia
254050009	Short rib dysplasia
254051008	Type III short rib polydactyly syndrome
254052001	Type IV short rib polydactyly syndrome
254054000	Boomerang dysplasia
254055004	Atelosteogenesis type 2
254058002	Pseudodiastrophic dysplasia
254059005	Kniest-Stickler dysplasia
254060000	Otospondylomegaepiphyseal dysplasia
254061001	Achondrogenesis, type II
254062008	Spondyloepimetaphyseal disorder
254064009	Namaqualand hip dysplasia
254065005	Progressive pseudorheumatoid dysplasia
254066006	Wolcott-Rallison dysplasia
254067002	Immuno-osseous dysplasia
254068007	Opsismodysplasia
254069004	Dysostosis multiplex
254078005	Spondylometaphyseal dysplasia - Sutcliffe type
254079002	Spondyloenchondrodysplasia
254080004	Epiphyseal dysplasia
254082007	Chondrodysplasia punctata, X-linked recessive type
254083002	Chondrodysplasia punctata, tibia-metacarpal type
254084008	Metaphyseal chondrodysplasia, Spahr type
254085009	Metaphyseal anadysplasia
254087001	Brachyrachia (short spine dysplasia)
254088006	Brachyolmia
254090007	Acromicric dysplasia
254091006	Trichorhinophalangeal dysplasia type I
254092004	Saldino-Mainzer dysplasia
254093009	Cranioectodermal dysplasia
254094003	Dysplasias with significant membranous bone involvement
254095002	Bent bone dysplasia
254096001	Kyphomelic dysplasia
254097005	Stuve-Wiedemann dysplasia
254098000	Multiple dislocations with dysplasia
254099008	Desbuquois syndrome
254100000	Spondyloepimetaphyseal dysplasia with joint laxity
254101001	Osteodysplastic primordial dwarfism
254102008	Osteodysplastic primordial dwarfism, type 1
254103003	Osteodysplastic primordial dwarfism, type 2
254104009	Dysplasia with decreased bone density
254110009	Osteogenesis imperfecta type IIA
254111008	Osteogenesis imperfecta type IIB
254112001	Osteoporosis with pseudoglioma
254113006	Bruck syndrome
254114000	Singleton-Merten syndrome
254116003	Geroderma osteodysplastica
254117007	Dysplasia with defective mineralization
254120004	Dysplasia with increased bone density
254121000	Osteopetrosis - intermediate type
254122007	Osteopetrosis with renal tubular acidosis
254123002	Dysosteosclerosis
254124008	Osteosclerosis - Stanescu type
254125009	Axial osteosclerosis
254129003	Osteopathia striata with cranial sclerosis
254130008	Endosteal hyperostoses
254131007	Worth disease
254132000	Endosteal hyperostoses with cerebellar hypoplasia
254133005	Pachydermoperiostosis - familial
254134004	Craniometaphyseal dysplasia - severe type
254135003	Craniometaphyseal dysplasia - mild type
254137006	Oculodento-osseous dysplasia
254138001	Oculodento-osseous dysplasia - severe type
254139009	Oculodento-osseous dysplasia - mild type
254140006	Disorganized development of cartilaginous and fibrous components of the skeleton
254142003	Pseudochondroplasia
254144002	Osteoglophonic dysplasia
254146000	Infantile myofibromatosis
254149007	Carpal-tarsal osteolysis with nephropathy
254150007	Francois syndrome
254151006	Winchester syndrome
254152004	Torg type osteolysis
254153009	Familial expansile osteolysis
254154003	Congenital ectodermal defect
254156001	Congenital ichthyosiform erythroderma
254157005	Ichthyosis vulgaris
254158000	Autosomal dominant ichthyosis vulgaris
254159008	Severe ichthyoses
254161004	Erythrodermic lamellar ichthyosis
254163001	Non-erythrodermic lamellar ichthyosis
254164007	Autosomal dominant lamellar ichthyosis
254167000	Bullous ichthyosiform erythroderma
254168005	Localized bullous ichthyosiform erythroderma
254169002	Ichthyosis bullosa of Siemens
254170001	Ichthyosis hystrix of Curth-Macklin
254171002	Maleformatio ectodermalis generalisata of Bafverstedt
254172009	Ichthyosis hystrix gravior of Rheydt
254173004	Hystrix ichthyosis with deafness
254174005	Porcupine man
254176007	Progressive recessive dystrophic epidermolysis bullosa
254177003	Epidermolysis bullosa simplex with hypodontia
254179000	Epidermolysis bullosa simplex herpetiformis
254180002	Epidermolysis bullosa simplex with mottled pigmentation
25418001	Primordial cyst
254181003	Epidermolysis simplex superficialis
254183000	Lethal autosomal recessive epidermolysis bullosa simplex
254185007	Dystrophic epidermolysis bullosa
254186008	Localized dystrophic epidermolysis bullosa
254187004	Localized recessive dystrophic epidermolysis bullosa
254188009	Generalized dystrophic epidermolysis bullosa
254189001	Generalized recessive dystrophic epidermolysis bullosa mitis
254191009	Localized junctional epidermolysis bullosa
254192002	Inverse junctional epidermolysis bullosa
254193007	Progressive junctional epidermolysis bullosa (neurotrophic)
254194001	Generalized junctional epidermolysis bullosa
254196004	Junctional epidermolysis bullosa mitis
254197008	Cicatricial junctional epidermolysis bullosa
254206003	Congenital vascular nevus
254207007	Reticulate vascular nevus
254208002	Nevus sanguineous
254209005	Mixed hemangioma
254211001	Salmon patch nevus
254217002	Hereditary acantholytic dermatosis
254220005	Inherited cutis laxa
254221009	Neonatal cutis laxa with marfanoid phenotype
254222002	Cutis laxa, recessive, type I
254223007	Cutis laxa, recessive, type II
254225000	Congenital alopecia with keratin cysts
254227008	Hypotrichosis with keratosis pilaris and lentiginosis
254230001	Uncombable hair syndrome
254231002	Congenital wooly hair
254233004	Congenital ringed hair
254234005	Marie Unna syndrome
254236007	Congenital enlarged nails
254239000	Congenital retraction of nipple
254241004	Segmental neurofibromatosis
254243001	Ash leaf spot, tuberous sclerosis
254246009	Congenital malformation caused by cytotoxic agents
25425008	Autosomal recessive glutaric aciduria, type 2
254255007	Congenital malformation of anterior pituitary
254256008	Congenital malformation of posterior pituitary
254261005	Pseudotrisomy 18
254264002	Partial trisomy 21 in Down's syndrome
254266000	Partial trisomy 18 in Edward's syndrome
254268004	Partial trisomy 13 in Patau's syndrome
254269007	Whole chromosome trisomy meiotic nondisjunction
254270008	Whole chromosome trisomy - mitotic nondisjunction mosaicism
254272000	Triploidy and polyploidy
254273005	Autosomal deletion - mosaicism
254274004	Deletion of part of autosome
254277006	Sex chromosome abnormality - female phenotype
254280007	Turner's phenotype, partial X deletion karyotype
254281006	Turner's phenotype - ring chromosome karyotype
254282004	Female with more than three X chromosomes
254283009	Mosaicism - lines with various numbers of X chromosomes
254284003	Sex chromosome abnormality - male phenotype
254285002	Male with structurally abnormal sex chromosome
254286001	Male with sex chromosome mosaicism
254287005	FRAXA
254288000	FRAXE
25443007	X chromosome-linked pyridoxine responsive sideroblastic anemia
25472008	Sickle cell-hemoglobin D disease
254774003	Cobb's syndrome
254775002	Bregeat's syndrome
254778000	Congenital livedo reticularis
254780006	Arteriovenous malformation of skin
254784002	Blue rubber bleb nevus
254787009	Verrucous hemangioma of skin
254793001	Cavernous lymphangioma of skin
254815002	Congenital giant pigmented nevus of skin
254817005	Oculocutaneous melanocytic nevus
254836000	Congenital lymphangioma
255581000119100	Simple craniosynostosis
25559009	Congenital absence of left pulmonary artery
2560006	Syndactyly of fingers with fusion of bones
25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient
25617003	Congenital duodenal obstruction due to malrotation of intestine
25642007	Congenital fissure of sternum
25792000	Kearns-Sayre syndrome
2583009	Chiari's network
25896009	Congenital atresia of ileum
25898005	Congenital secretory diarrhea
2593002	Dubowitz's syndrome
25971000119100	Vascular birthmark
25972003	Congenital absence of rectum
26015003	Maroteaux-Lamy syndrome, intermediate form
26061003	Congenital absence of external auditory canal
26098002	Microcornea
26132002	5-Oxoprolinase deficiency
261407007	Band of Ladd
26146002	Complete transposition of great vessels
261482004	Spinal arteriovenous malformation
26155004	Disorder: ectopic bone tissue, congenital
26179002	Congenital atresia of esophagus
26201005	Aortic left ventricular tunnel
262263007	Vitellointestinal band
2625009	Senter syndrome
26252007	Chronic granulomatous disease, type IIA
26287007	Uterus incudiformis
26315009	Congenital obstruction of small intestine
26336006	Tyrosinase-positive oculocutaneous albinism
263944006	Anterolateral muscle band
263961009	Bilateral isomeric atria
26399002	Ocular albinism
263993001	Epoophoron
26408002	Congenital tracheocele
264086008	Malaligned outlet septum
26409005	Congenital dyserythropoietic anemia, type III
264162009	Posteromedial muscle band
264195003	Simonart's band
264258007	Persistent vertical vein
26445008	Cat eye syndrome
264467005	False tendon - heart
264480008	Persistent Gartner's duct
264491001	Mullerian remnant
264571006	Septoparietal trabeculations
26480007	11p partial trisomy syndrome
264917009	Upper moiety ureter of duplex kidney
264918004	Lower moiety ureter of duplex kidney
265569002	Aland eye disease and ocular albinism
26568002	Faun tail syndrome
265798000	Amelia of lower limb
26590002	Congenital ectropion
26595007	Congenital absence of part of brain
266125005	Early congenital syphilis with symptoms
266126006	Late congenital neurosyphilis
26624006	Anodontia
266673001	Ectopic neuronal tissue
26682008	Homozygous beta thalassemia
26718008	Robinson nail dystrophy-deafness syndrome
267207004	Congenital cardiovascular disorders during pregnancy, childbirth and the puerperium
267212003	Congenital abnormality of uterus in pregnancy, childbirth and the puerperium
267213008	Congenital abnormality of uterus affecting obstetric care
267214002	Congenital abnormality of uterus - baby delivered
267215001	Congenital abnormality of uterus - baby delivered with postpartum complication
267216000	Congenital abnormality of uterus complicating antenatal care, baby not yet delivered
267217009	Congenital abnormality of uterus complicating postpartum care - baby delivered during previous episode of care
26730002	Persistent thyroglossal duct
267372009	Congenital non bullous ichthyosiform erythroderma
267424007	Generalized glycogenosis
26745009	Mucopolysaccharidosis type I-H/S
267454002	Acatalasemia
267524009	Constitutional aplastic anemia with malformation
267535004	Congenital thrombocytopenic purpura
267550008	Congenital methemoglobinemia
267585008	Rieger eye malformation sequence
26780008	Coarctation of pulmonary artery
268143001	Spina bifida with hydrocephalus - open
268146009	Spina bifida without hydrocephalus - open
268158009	Megalocornea
268160006	Congenital corneal opacity
268163008	Congenital ptosis
268166000	Ear auricle and external auditory canal absent
268172000	Congenital malposition of ear
268173005	Branchial cleft sinus and fistula
268174004	Bulbus cordis and cardiac septal closure anomalies
268180007	Right hypoplastic heart syndrome
268187005	Congenital pulmonary artery aneurysm
268190004	Congenital peripheral aneurysm
268195009	Ectopic tissue in lung
268197001	Central incomplete cleft palate
268201001	Esophageal atresia, stenosis and fistula
268205005	Atresia and stenosis of large intestine, rectum and anal canal
268209004	Idiopathic congenital megacolon
268213006	Congenital abnormality of liver and/or biliary tract
268219005	Embryonic cyst of fallopian tube and broad ligament
268223002	Congenital fusion of labia
268228006	Undescended testes - bilateral
268232000	Bilateral renal hypoplasia
268234004	Fibrocystic kidney disease
268236002	Congenital bladder neck stenosis
268237006	Congenital urethral valvular stricture
268239009	Congenital abnormality of skull and face bones
268240006	Congenital torticollis
268243008	Genu recurvatum and long leg bone bowing
268251006	Simple syndactyly of fingers
268262006	Acrocephalosyndactyly
268264007	Constriction ring of upper limb with lymphedema
268265008	Congenital anomalies of elbow and upper arm
268274005	Enchondromatosis
268276007	Congenital exostosis
268288009	Congenital generalized alopecia
268290005	Hypoplasia of nipple
268302006	Aberrant thyroid gland
26865008	Congenital absence of superior vena cava
26885007	Cervical auricle
268854008	Congenital renal failure
2689001	Dominant dystrophic epidermolysis bullosa with absence of skin
269175006	Beta thalassemia trait
270117002	Platelet type pseudo-von Willebrand disease
27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
270510008	Anomalous coronary artery communication
270513005	Central complete cleft palate
270516002	Congenital macroglossia
270517006	Triple kidney with triple pelvis
270519009	Localized congenital skull defect
270520003	Whole chromosome monosomy - mitotic nondisjunction mosaicism
270521004	Trisomy and partial trisomy of autosome
27080008	beta^0^ Thalassemia, deletion type
270889005	Deletion of long arm of chromosome 18
270890001	Deletion of short arm of chromosome 18
270963009	Congenital absence of thumb
271015004	Congenital instability of hip joint
271018002	Congenital absence of tendon
271020004	Congenital absence of breast with absent nipple
271387005	Congenital enlarged kidney
271431003	Congenital stenosis of nasolacrimal duct
271432005	Congenital renal artery stenosis
271542005	Aberrant intrinsic muscles of hand
271573009	Congenital abnormality of thoracic aorta and pulmonary arteries
271574003	Congenital partial fusion of spine
27173008	Tarsal coalitions
27183007	Anomaly of chromosome pair 14
271961001	Congenital malformation of ovaries and fallopian tubes
27262009	Congenital absence of pectoral muscle
27272007	Byzanthine arch palate
27299009	Congenital maxillary hypoplasia
27409004	Congenital macrocheilia
274151005	Congenital absence of testis
274864009	Glycogen storage disease, type II
2749000	Congenital deformity of hip joint
274908005	Deletion with complex rearrangement
274947007	Divided right atrium
27503000	Gilbert's syndrome
275259005	Congenital malformation of ear
275260000	Congenital malformation of the respiratory system
275262008	Congenital malformation of upper alimentary tract
275263003	Klinefelter's syndrome XXXY
275264009	Klinefelter's syndrome XXXXY
275348004	Adactyly
275376007	Congenital syphilitic chronic coryza
275407001	Double kidney with double pelvis
275416002	Congenital bilateral aplasia of vas deferens
275468009	Congenital quadriplegia
275519006	Peripheral arteriovenous malformation
275598004	Familial lipoprotein lipase deficiency
27637000	Dextrocardia
27642008	Dysmorphic sialidosis, congenital form
27648007	Congenital syphilitic periostitis
276524004	Neonatal chloridorrhea
276578004	Physiological anemia of infancy
276579007	Late anemia of newborn
276585000	Congenital nephritis
276627004	Congenital uremia
276654001	Congenital malformation
276655000	Congenital deformity
276660001	Congenital viral disease
276663004	Congenital human parvovirus infection
276664005	Congenital coxsackie infection
276665006	Congenital acquired immune deficiency syndrome
276666007	Congenital human immunodeficiency virus positive status syndrome
276670004	Congenital non-bacterial non-viral infection
276671000	Congenital falciparum malaria
276672007	Congenital candidiasis
276692000	Congenital viral pneumonia
276693005	Congenital bacterial pneumonia
276700005	Congenital syphilitic rhinitis
276720006	Dysmorphism
276723008	Intrahepatic biliary hypoplasia
276752006	Embryological remnant
27680009	Congenital hyperplasia of sebaceous glands of lip
27718001	Maple syrup urine disease
27729002	Pyloric atresia
277299009	Ruptured cerebral arteriovenous malformation
277301002	Ruptured spinal arteriovenous malformation
27742002	Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association
277485007	Secondary pulmonary hypoplasia
277486008	Pulmonary hypoplasia associated with short gestation
277494001	Vascular loops of inner ear
277495000	Vascular malformation of inner ear
277644009	Congenital varicella syndrome
277656005	Primary pulmonary hypoplasia
27774009	Congenital deformity of ankle joint
277807007	Curry-Hall syndrome
277810000	Trichodental syndrome
277893002	Carbohydrate-deficient glycoprotein syndrome type I
277894008	Carbohydrate-deficient glycoprotein syndrome type II
277895009	Carbohydrate-deficient glycoprotein syndrome type III
277921008	Atelencephaly
277922001	Aprosencephaly
277949001	Combined malformation of central nervous system and skeletal muscle
277950001	Muscle eye brain disease
27837003	Pyle metaphyseal dysplasia
278503003	Congenital hypothyroidism with diffuse goiter
278509004	Congenital non-progressive ataxia
278530008	Atresia of nasolacrimal duct
278531007	Congenital hydrocalicosis
278532000	Transverse deficiency lower limb - knee level
278682004	Dental midlines coincident and incorrect
278708009	Spondylodysplastic group
278713008	Spondyloepiphyseal dysplasia congenita group
278715001	Chondrodysplasia punctata (stippled epiphyses) group
278832007	Bent bone dysplasia group
278833002	Craniometadiaphyseal dysplasia
278834008	Idiopathic multicentric osteolysis
278929008	Congenital hepatitis C infection
278991002	Sialic storage disease
279014003	Congenital abnormality of nipple
279081001	Dysostosis multiplex group
279082008	Acromesomelic dysplasia group
279309008	Osteogenesis imperfecta, type IV B
27943000	Congenital glucose-galactose malabsorption
27986000	Congenital pulmonary arteriovenous aneurysm
279919005	Tubule of epoophoron
279920004	Duct of epoophoron
279921000	Vesicular appendix of ovary
279922007	Paroophoron
279923002	Tubule of paroophoron
280143008	Venous remnant
280144002	Persistent descending vein
280159008	Osteogenesis imperfecta, type IV A
28016005	Jackson's membrane
28041003	Congenital lip pits
28065000	Intralobar bronchopulmonary sequestration
28070007	Congenital maxillary hyperplasia
280831005	Arterial embryological remnant
28093001	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
281095009	Congenital stricture of common bile duct
281109007	Vestigial gastrointestinal remnant
281372009	Lumbarized first sacral vertebra
281373004	Sacralization of fifth lumbar vertebra
281585008	Crossed ectopia of testis
281587000	Pentalogy of Cantrell
2818004	Congenital vascular anomaly of eye
28183005	Fructose-biphosphatase deficiency
281899002	Congenital hydrocephalus caused by toxoplasmosis
282036005	Congenital arterial aneurysm
282038006	Congenital abnormality of external ear
282040001	Congenital abnormality of nose and nasopharynx
28204005	Inherited arthrogryposis
282041002	Congenital abnormality of oral cavity
282042009	Congenital abnormality of salivary duct
28212002	Intestinal lipofuscinosis
28259009	Crigler-Najjar syndrome
2828008	Congenital stenosis of nares
2829000	Uhl's disease
284449005	Congenital total lipodystrophy
285251000119101	Dextrotransposition of the great arteries
28550007	Congenital capsular cataract
28557005	Geleophysic dysplasia
28574005	Congenital anomaly of coronary artery
285765003	Manifest-latent nystagmus
28599006	Ascher's syndrome
286071000119109	Congenital peripheral pulmonary artery stenosis
286331000119109	Total anomalous pulmonary venous connection to coronary sinus
286341000119100	Total anomalous pulmonary venous connection to hepatic vein
286351000119103	Total anomalous pulmonary venous connection to right atrium
286361000119101	Total anomalous pulmonary venous connection to superior vena cava
28656008	Congenital insufficiency of aortic valve
28681006	Metaphyseal chondrodysplasia
28682004	Congenital duplication of colon
286920009	Amino acid/carbohydrate metabolic disorder
287080001	Congenital anomaly of nervous system of head/neck
287085006	Genitourinary congenital anomalies
287087003	Congenital lordosis/scoliosis
28740008	Trigonocephaly
28770003	Polycystic kidney disease, infantile type
288248009	Congenital bowing of tibia, fibula and femur
28828001	Gastric atresia
2884008	Weill-Marchesani syndrome
28861008	Crouzon syndrome
2893009	Anomaly of chromosome pair 10
28975000	Constitutional aplastic anemia
290006	Melnick-Fraser syndrome
29052002	Bilobed right lung
29057008	Venous anomaly of umbilical cord
29076005	Meckel-Gruber syndrome
29110005	Congenital absence of small intestine
29145002	Schwartz-Jampel syndrome
29155003	Ectromelia of upper limb
29248006	Metaphyseal chondrodysplasia, Schmid type
29257000	13q partial monosomy syndrome
29271008	Camptodactyly
29272001	Chronic granulomatous disease, type I
29291001	Glycogen storage disease, type VI
29307005	Craniolacunia
29326002	Ectopic hyperparathyroidism
29328001	Notomelus
29345006	Congenital atresia of ejaculatory duct
29352008	Thanatophoric dysplasia
29375001	Abnormal number of cusps
29379007	8q partial monosomy syndrome
294705005	Dominant epidermolysis bullosa simplex, Weber-Cockayne type
29504002	Posterior polymorphous corneal dystrophy
29581008	Longitudinal deficiency of tarsal bone
29590001	Congenital total cataract
29632002	Congenital atresia of pharynx
29633007	Glycogen storage disease
29642000	Congenital adhesions of peritoneum
2965006	Congenital alopecia
29715005	Darwin's tubercle
297163001	Congenital urethral valve
297165008	Duodenal web
297195000	Macrodactyly of hand
297218007	Congenital abnormality of ductus arteriosus
297222002	Congenital abnormality of vein
297226004	Disorder of creatine synthesis
297251003	Glycogen phosphorylase kinase deficiency, X-linked
297252005	Glycogen phosphorylase kinase deficiency, autosomal recessive
297253000	Cardiac glycogen phosphorylase kinase deficiency
297254006	Hepatic and muscle glycogen phosphorylase kinase deficiency
297255007	Hepatic glycogen phosphorylase kinase deficiency
297267009	Retrosternal thyroid gland
29914000	Dihydrolipoamide dehydrogenase deficiency
29928006	Congenital insufficiency of mitral valve
29934004	Anomalous pulmonary venous drainage to coronary sinus
29938001	Extralobar bronchopulmonary sequestration
29956001	Myelatelia
29980002	Congenital malrotation of intestine
30023002	Hydranencephaly
30028006	Spondyloschisis
3004001	Congenital dilatation of esophagus
30102006	Glucose-6-phosphate transport defect
30174008	Childhood hypophosphatasia
30188007	Alpha-1-antitrypsin deficiency
302174000	Congenital abnormality of iris and ciliary body
302297009	Congenital deformity of foot
302298004	Congenital rearfoot valgus
302299007	Congenital forefoot valgus
30248008	Pygoamorphus
30275001	Accessory kidney
30278004	Kundrat's syndrome
302811004	Progressive congenital rubella encephalomyelitis
302882002	Hydrocephalus associated with congenital aqueduct stenosis
302943003	Abnormal number of pulmonary valve cusps
302948007	Accessory salivary gland or duct
302949004	Congenital bronchoesophageal fistula without atresia
302951000	Congenital macrocolon, not aganglionic
302952007	Congenital fistula of rectum and anus
302953002	Agenesis of gallbladder
302954008	Embryonic cyst of fallopian tube
302955009	Congenital extension contracture of the knee
302956005	Transverse deficiency of hand
302957001	Transverse arrest metacarpal second to fifth rays
302958006	Congenital absence of multiple toes
302959003	Duplication of lower limb
302960008	Mosaicism 45, X; 46, XX
302961007	Hereditary splenic hypoplasia
303085006	Paratubal cyst arising in mesonephric duct
303094000	Propionyl-coenzyme A carboxylase deficiency pccA complementation group
303095004	Propionyl-coenzyme A carboxylase deficiency pccBC complementation group
303138003	Thyroglossal duct anomaly
30361005	1q partial monosomy syndrome
304068004	Bilateral cleft lip
304576008	Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency
30468000	Dolichocolon
304931000119109	Congenital absence of left forearm and hand
30526003	Omocephalus
30575002	Fanconi's anemia
30592006	Brachymetatarsia
30620003	Spina bifida of dorsal region
30652003	Ehlers-Danlos syndrome, type 3
306949002	Laryngeal cleft type I
306950002	Laryngeal cleft type II
306951003	Laryngeal cleft type III
306953000	Laryngeal cleft type IV
307127004	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
307128009	Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency
307130006	3-Ketoacyl-coenzyme A triolase deficiency
3073006	Ruvalcaba syndrome
307343001	Acquired hemoglobin H disease
307355007	Congenital athetosis
307359001	Congenital agenesis of brainstem nuclei
307670000	Congenital nystagmus with sensory abnormality
307671001	Congenital nystagmus without sensory abnormality
307691000119108	Monostotic fibrous dysplasia of left femur
307771000119103	Monostotic fibrous dysplasia of right femur
308561000119101	Syndactyly of toes of bilateral feet
30915001	Holoprosencephaly sequence
31076000	Congenital ischemic atrophy of central nervous system structure
310798000	Brachydactyly of hand
310800007	Brachyphalangia of toe
31080005	Pericarditis secondary to Mulibrey nanism
311808009	Aberrant retroesophageal subclavian artery causing dysphagia lusoria
312005008	Congenital penoscrotal transposition
312214005	Floating-Harbor syndrome
312514006	Netherton's syndrome
312857009	Alpha-2-antitrypsin deficiency
31290005	Congenital hydroureter
31291009	Ectodermal dysplasia-ocular malformation syndrome
31323000	Severe combined immunodeficiency disease
31325007	Ring chromosome 21 syndrome
313339007	Multiple epiphyseal dysplasia tarda type IIIa
31339007	Congenital cyst of vulva
313426007	Kabuki make-up syndrome
31368008	Thiamin-responsive maple syrup urine disease
31401003	Bicornuate uterus
314270008	Persistent hyperplastic primary vitreous
31429000	Cerebral cortical dysgenesis
314508003	Congenital myogenic ptosis
314786000	Congenital exotropia
315027009	Congenital conduction defect
315271000119104	Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine
315297006	Congenital dysgenetic ptosis
31570000	Congenital atresia of artery
31686000	Congenital anomaly of lower alimentary tract
31742004	Arteriohepatic dysplasia
31798004	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
318761000119105	Progressive diaphyseal dysplasia
31915006	Congenital deviation of ureter
31925001	Hereditary factor I deficiency disease
31981007	12p partial monosomy syndrome
32003007	Congenital anomaly of face bones
32107005	Anomaly of chromosome pair 17
32113001	Syndactyly of toes
32194006	Anomalous pulmonary venous drainage to hepatic veins
32219008	Craniorachischisis
32232003	Spina bifida of cervical region
32299009	Anomaly of chromosome pair 2
32339005	Longitudinal deficiency of metacarpal bone
32361000119104	Congenital hemangioma
323751000119109	Simple syndactyly of toes of bilateral feet
323761000119106	Simple syndactyly of toes of left foot
323771000119100	Simple syndactyly of toes of right foot
32454003	Congenital anomaly of the thyroid gland
32614006	Microglossia
32659003	Congenital hypoplasia of kidney
32735002	Congenital syphilitic encephalitis
327877008	Incomplete ossification of bone
328011000119101	Congenital imperforate cervix
32809005	Congenital anomaly of sclera
32855007	Hereditary persistence of fetal hemoglobin unlinked to beta-globulin gene cluster
32891000	Rotor syndrome
32958008	Congenital micrognathism
32985001	Greig cephalopolysyndactyly syndrome
330041000119103	Congenital porencephalic cyst
33010005	Floppy infant syndrome
33169001	Factor XI deficiency, type II
33225004	Anorectal anomaly
33229005	Microphthalmos associated with other anomalies of eye AND/OR adnexa
33257003	Congenital duplication of digestive organs
33313004	Radioulnar synostosis
33316007	GM 2 gangliosidosis
33322003	Congenital deformity of forehead
33410002	Marshall syndrome
33504000	Concrescence of teeth
33521009	Congenital anomaly of lens shape
335331000119104	Duane's syndrome of right eye
33534005	Congenital bowing of femur
335831000119107	Congenital posterior subcapsular polar cataract of right eye
335841000119103	Congenital nuclear cataract of right eye
335861000119104	Congenital cataract of right eye
335871000119105	Congenital anterior subcapsular polar cataract of right eye
33706001	7q partial trisomy syndrome
337471007	Cleft upper lip, upper jaw AND palate
33754009	Congenital coxa valga
338486003	Cheilognathouranoschisis
33979003	Nievergelt's syndrome
33990008	Ectopic parotid gland tissue
34048007	Syndactyly of fingers
340941000119101	Duane's syndrome of left eye
34111000	Congenital anomaly of the hand
341441000119102	Congenital posterior subcapsular polar cataract of left eye
341451000119100	Congenital nuclear cataract of left eye
341471000119109	Congenital cataract of left eye
341481000119107	Congenital anterior subcapsular polar cataract of left eye
341751000000103	Congenital dextroposition of heart
342821000119103	Congenital posterior subcapsular polar cataract
342831000119100	Congenital combined form cataract
342841000119109	Congenital choroidal fold
342911000119104	Congenital anterior subcapsular polar cataract
3439009	Severe combined immunodeficiency due to absent peripheral T cell maturation
34420000	Storage disease
34424009	Congenital duplication of vagina
34488005	Dimelia
34513009	Zebra body myopathy
34566007	Sialic acid storage disease, severe infantile type
34612006	Pelvis justo major
34638006	Lamellar ichthyosis AND trichorrhexis invaginata syndrome
34643004	Diaphyseal dysplasia
346691000119104	Congenital posterior subcapsular polar cataract of bilateral eyes
346701000119104	Congenital nuclear cataract of bilateral eyes
346711000119101	Congenital combined form cataract of bilateral eyes
346721000119108	Congenital cataract of bilateral eyes
346731000119106	Congenital anterior subcapsular polar cataract of bilateral eyes
34748004	Adams-Oliver syndrome
34774005	Congenital absence of bronchus
348151000119103	Congenital pit of optic disc of right eye
34821005	Congenital stenosis of choanae
34852006	Glucose-6-phosphate dehydrogenase deficiency class II variant anemia
348601000119109	Congenital pit of optic disc of left eye
348971000119105	Congenital pseudostrabismus
34911001	Congenital hypoplasia of penis
34925000	Megaloblastic anemia due to inborn errors of metabolism
349281000119109	Congenital zonular cataract of bilateral eyes
35031005	Hanhart's syndrome
350353007	De Vaal's syndrome
35045004	Microtia
35066007	von Willebrand disease, type IID
35082008	Cervical thymic remnant
35111000119109	Cystic malformation of posterior fossa
35111009	Trisomy X syndrome
351287008	Reticular dysgenesis with congenital aleukocytosis
35156002	Hypoplasia of cementum
35266001	Congenital duplication of appendix
35272001	Microphakia
35387008	Congenital aphakia
35434009	Sickle cell-hemoglobin C disease
35484002	Aplasia cutis congenita
35520007	Nager syndrome
35547002	Polyotia
35555009	Accessory trachea
35577008	Holoacardius acephalus
35595006	Deradelphus
35691006	Combined deficiency of sialidase AND beta galactosidase
35742006	Congenital syphilis
35778001	Megaloblastic anemia due to error of folate metabolism
35850006	Infantile uterus
359531004	Amegakaryocytic thrombocytopenia with congenital malformation
35962006	Nevus comedonicus
35964007	Congenital anomaly of nail
359704000	von Willebrand disease, type 1^a^
359709005	von Willebrand disease type IA
359714009	von Willebrand disease type 2A
359721009	von Willebrand disease type 2B
359824007	Incomplete anencephaly
36010004	Congenital cerebral meningocele
36025004	Fibrous skin tumor of tuberous sclerosis
360348000	Pituitary thyroid hormone resistance
360353005	Thyrotoxicosis due to pituitary thyroid hormone resistance
360369003	Holocarboxylase synthase deficiency
360422007	Doubling of uterus with doubling of cervix and vagina
360424008	Dysplastic ovary
360426005	Congenital ovarian dysplasia
360429003	Congenital epiblepharon-inferior oblique syndrome
360430008	Swan's syndrome II
360431007	Embedded tooth
360434004	Aganglionosis of Auerbach's plexus
360441005	Aganglionosis of colon
360447009	Mesonephric cyst
360473004	Congenital muscular subaortic stenosis
360481003	Common atrioventricular canal
360491009	Congenital atresia of jejunum
360494001	Malrotation of the intestine type IIID
360495000	Familial megaloblastic anemia
360507004	Chondrodysplasia punctata congenita
360522009	Congenital epulis of newborn
360525006	Congenital gingival granular cell tumor
360526007	Congenital absence of upper limb
360527003	Diplomyelia
360530005	Myeloschisis
36070007	Wiskott-Aldrich syndrome
36079008	Double cardiac valve orifice
361010007	Deficiency of proline dipeptidase
36110001	Congenital anomaly of pulmonary artery
36114005	Sex phenotype-karyotype dissociation syndrome
361146001	Congenital small renal papilla
361147005	Congenital hypoplasia of renal papilla
361203007	Malonic aciduria
361213004	Congenital absence of pelvis and lower limb
361263009	Paravaginal cyst arising in mesonephric duct
361264003	Congenital arteriovenous fistula of kidney
361265002	Congenital stenosis of external auditory canal
36133000	Abnormal position of cardiac valve
36138009	Congenital immunodeficiency disease
36172001	Congenital subluxation of hip
36233006	Congenital stenosis of tricuspid valve
36297009	Septate vagina affecting pregnancy
362984008	Anomaly of chromosome pair
362993009	Autosomal recessive severe combined immunodeficiency disease
362998000	Branchial cleft anomaly
363009005	Complement component deficiency
363024001	Congenital anomaly of abdomen
363025000	Congenital anomaly of back
363026004	Congenital anomaly of body cavity
363027008	Congenital anomaly of body wall
363028003	Congenital anomaly of cardiovascular structure of trunk
363029006	Congenital anomaly of epidermal appendages
363030001	Congenital anomaly of lower trunk
363031002	Congenital anomaly of lymphatic structure of trunk
363032009	Congenital anomaly of musculoskeletal structure of trunk
363034005	Congenital anomaly of neural structure of trunk
363035006	Congenital anomaly of thorax
363036007	Congenital anomaly of tympanic anulus
363037003	Congenital anomaly of upper trunk
363038008	Congenital bacterial disorder
363039000	Congenital connective tissue disorder
363040003	Congenital immunodeficiency involving the hematopoietic system
363041004	Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism
363042006	Congenital sequelae of disorders
36313005	Dolichopellic pelvis
363627009	Parathyromatosis
36369001	1p partial monosomy syndrome
36376006	Congenital absence of esophagus
36422005	Transposition of pulmonary veins
36467003	Alpha plus thalassemia
36472007	Sickle cell-thalassemia disease
3650004	Congenital absence of liver
36517007	Polyostotic fibrous dysplasia of bone
36574005	Transverse deficiency of lower limb
36601008	Craniometaphyseal dysplasia
36608002	16q partial monosomy syndrome
36619004	Congenital duplication of cystic duct
36631002	Hepatomphalocele
36659001	Congenital notching of tip of nose
366951000119109	Adolescent X-linked adrenoleukodystrophy
366961000119106	Albinism co-occurrent with hematologic disorder
367041000119108	Childhood cerebral X-linked adrenoleukodystrophy
367101000119105	Congenital malformation of bladder and urethra
367121000119101	Congenital prolapse of urinary meatus
367406009	Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase
367462009	Facio-auriculo-vertebral spectrum
367468008	Congenital atresia of nares
367489004	Infantile malignant osteopetrosis
367506006	Polydactyly
367520004	Incontinentia pigmenti syndrome
36752001	Congenital splenomegaly
36775008	Displaced ureteric orifice
36799008	Glutamate-cysteine ligase deficiency
3680009	Monocephalus tripus dibrachius
369071000119105	Congenital renal cyst
36980009	Severe combined immunodeficiency due to absent adenosine deaminase
36985004	Inherited disorder of thyroid metabolism
3699000	Transverse deficiency of upper limb
370473000	Congenital arthrogryposis caused by teratogen
370480003	Hepatoportal microvascular dysplasia
370481004	Transitional vertebra
370483001	Mittendorf's dot
3705009	Congenital anomaly of anterior chamber of eye
37054000	Congenital atresia of colon
370966000	Congenital anomaly of endocrine ovary
371015003	Congenital absence of both testes
37104009	Congenital enlargement of coronary sinus
371045000	Translocation Down syndrome
371076006	Congenital syringomyelia
371080001	Congenital leg length discrepancy
371118004	Congenital anomaly of endocrine gonad
371122009	Congenital anomaly of endocrine testis
371189003	Bilateral acheiria
371191006	Bilateral congenital absence of feet
371197005	Congenital absence of foot
371199008	Congenital absence of hand
371313002	Congenital cerebellar cortical atrophy
371629001	Congenital dislocation of elbow
37221009	Congenital absence of all toes
37260006	Congenital tuberculosis
37281006	Cyclops hypognathus
373131000	Non-restrictive ventricular septal defect
3733009	Congenital eventration of right crus of diaphragm
373413006	Syndactyly
373427001	Congenital bony fusion of phalanges
373583002	Congenital obstructive megaureter
373584008	Congenital pelviureteric junction obstruction
373585009	Congenital ureterovesical obstruction
373586005	Congenital urinary meatus obstruction
373587001	Chiari malformation type II
373637000	Congenital vesicoureterorenal reflux
373643003	Cleft lip and alveolus
373650004	Hypoplasia of optic disc
373661007	Optic disc structural anomaly
37367006	Anomaly of chromosome pair 7
37373007	Meckel's diverticulum
373905003	Jervell and Lange-Nielsen syndrome
373937002	Incomplete ossification of ilium
37404003	Failure of rotation of colon
37495007	Familial adrenocortical hypoplasia
37506004	4q partial monosomy syndrome
37528004	Malrotation of cecum
37535007	Anomaly of chromosome pair 12
37548006	Hypopigmentation-immunodeficiency disease
37639005	Anomalous pulmonary venous drainage to right atrium
37666005	Glycogen storage disease type X
37687000	Congenital absence of cervix
37767008	Congenital deformity of wall of nasal sinus
378007	Morquio syndrome
37849005	Congenital uterine anomaly
37939008	Congenital anomaly of the bladder
37975005	Accessory ovary
38116000	Hydromyelocele
38164009	Congenital anomaly of integument
38215007	Oculodentodigital syndrome
38296007	Congenital anomaly of ovary
38353004	Congenital porencephaly
38371006	Poland anomaly
38385001	Persistent left posterior cardinal vein
38437003	Uterus arcuatus
38439000	Cranial duplication
3845008	Congenital duplication of intestine
38494008	Langer mesomelic dysplasia syndrome
385482004	Osteogenesis imperfecta type I
385483009	Osteogenesis imperfecta type III
38632003	Pharyngeal pituitary tissue
387732009	Becker muscular dystrophy
387759001	Chronic granulomatous disease
38776003	Congenital absence of skeletal muscle
38795005	Sialidosis
38804009	Turner syndrome
38824008	Congenital anomaly of the thymus
38827001	Congenital fusion of spine
38847009	XXXXY syndrome
38856001	Congenital anomaly of appendix
38859008	Syndactyly of toes with fusion of bones
3886001	Congenital fecaliths
388981000	Congenital dystrophia brevicollis
389157002	Thanatophoric dysplasia, type 1
389158007	Thanatophoric dysplasia, type 2
389159004	Mild spondyloepiphyseal dysplasia with premature onset arthrosis
389160009	Spondyloepiphyseal dysplasia with joint laxity
389161008	Sponastrime dysplasia
389162001	Acroscyphodysplasia
389163006	Metaphyseal chondrodysplasia, Sedaghatian type
389165004	Brachyolmia - Maroteaux type
389166003	Trichorhinophalangeal dysplasia type III
389167007	Hunter-Thompson dysplasia
389168002	Brachydactyly syndrome type B
389169005	Brachydactyly syndrome type C
389170006	Precocious osteodysplasty
389171005	Yunis-Varon dysplasia
38919006	Congenital absence of auricle with atresia of auditory canal
389191003	Osteoplastic dysplasia
389193000	Osteodysplastic dysplasia, type I
389195007	Osteodysplastic dysplasia, type II
389199001	Cole-Carpenter dysplasia
389207000	Mixed sclerosing bone dysplasia
389214003	Diaphyseal dysplasia with anemia
389216001	Diaphyseal medullary stenosis with bone malignancy
389236000	Neonatal osteosclerotic dysplasia
389237009	Blomstrand dysplasia
389239007	Raine dysplasia
389260001	Lethal chondrodysplasia with fragmented bone
389261002	Greenberg dysplasia
389262009	Dappled diaphyseal dysplasia
389263004	Astley-Kendall dysplasia
389264005	Genochondromatosis
389268008	Spondyloenchondromatosis
389271000	Spondyloenchondromatosis with basal ganglia calcification
389272007	Carpotarsal osteochondromatosis
389273002	Cherubism with gingival fibromatosis
389276005	Congenital dysplasia of patella
389277001	Scypho-patellar dysplasia
38993008	Tricho-dento-osseous syndrome
38998004	Brachyphalangia
39112005	Glutathione synthase deficiency with 5-oxoprolinuria
39150004	Congenital anomaly of spinal meninges
391982004	Congenital pectus excavatum
392437005	Posterior embryotoxon
392461003	Congenital ectopic pupil
39302008	Fundus coloboma
39390005	Niemann-Pick disease, type B
39401000	Dolichocephalic dwarfism
39427000	Pachyonychia congenita syndrome
39476006	Congenital stricture of rectum
394910004	Congenital malformation of thumb
39513007	Congenital atresia of vas deferens
39526006	Redundant prepuce
39540007	Congenital depression in skull
39564008	Monocephalus
395693008	Congenital positional talipes
39574006	Congenital hypoplasia of inner granular layer of cerebellum
39586009	Hereditary persistence of fetal hemoglobin A gamma beta^+^ thalassemia
39589002	Hypoplasia of right heart
3961000119101	Relative macrocephaly
39719008	Transposition of intestine
397433001	Congenital tracheal collapse
397868007	Choledochocele
39788007	Ectrodactyly-ectodermal dysplasia-clefting syndrome
397894003	Congenital pericardial defect
398071000	Epidermolysis bullosa simplex, Ogna type
398114001	Ehlers-Danlos syndrome
398170002	Autosomal dominant epidermolysis bullosa simplex
398197009	Congenital choledochal cyst
398206004	Congenital deformity of face
398302004	Congenital anomaly of face
398316009	Patent urachus
398660000	Nevus spilus
398696001	Congenital pigmented melanocytic nevus
3987009	Congenital absence of trachea
398719004	Chondrodysplasia punctata, Conradi-Hünermann type
398943008	Congenital pigmented melanocytic nevus of skin
398958000	Chondrodysplasia punctata, X-linked dominant type
399040002	Congenital central hypoventilation
399045007	Juvenile fucosidosis
399046008	L - transposition of the great vessels
39905002	Scimitar syndrome
399087009	Propionic acidemia, type I
399091004	Facioscapulohumeral muscular dystrophy
39912006	Hereditary spastic paraplegia
399149003	Propionic acidemia, type II
399216004	D - transposition of the great vessels
399228007	Tetralogy of Fallot with absent pulmonary valve
399249008	Adult fucosidosis
39929009	Disorder of fatty acid metabolism
39987008	Congenital absence of right pulmonary artery
399882002	Cystic hygroma
399947002	Progeroid short stature with pigmented nevi
399959003	Premature aging syndrome
399960008	Congenital hamartoma
399971009	Junctional epidermolysis bullosa
399974001	Ectodermal dysplasia with tooth-nail-sweating defect
399982001	Congenital vascular disorder
400014002	Hereditary benign intraepithelial dyskeratosis
400017009	Mixed vascular malformation
400018004	Acrokeratosis verruciformis of Darier disease
400036004	Hypoplastic enamel-onycholysis-hypohidrosis syndrome
400038003	Congenital malformation syndrome
400042000	Cutaneous vascular malformation
400083002	Congenital hamartoma of skin
400085009	Acrokeratosis verruciformis of Hopf
400128006	Lethal tight skin contracture syndrome
400140006	Junctional epidermolysis bullosa gravis of Herlitz
400159008	Congenital vascular malformation
40028009	Congenital hyperplasia of intrahepatic bile duct
40052002	Congenital anomaly of neck
400945000	Congenital sixth nerve palsy
400946004	Congenital fibrosis syndrome
400947008	Congenital fibrosis of inferior rectus muscle
400951005	Cryptophthalmos
400952003	Ankyloblepharon filiforme adnatum
400953008	Congenital tarsal kink
400954002	Euryblepharon
400962005	Congenital miosis
400963000	Congenital mydriasis
400965007	Congenital iris ectropion
401046009	Nicolaides-Baraitser syndrome
40108008	Thalassemia
401138005	Pena-Shokeir syndrome type I
40130009	Spina bifida without hydrocephalus
401315004	Smith-Magenis syndrome
40145002	Congenital neutrophil actin dysfunction
40158001	Papillon-Lefèvre syndrome
40159009	Congenital macrostomia
40197009	Chronic granulomatous disease, type IA
402483002	Immunodeficiency with multicarboxylase deficiency
402559007	Congenital malignant melanoma
402704005	Developmental anomaly of vitelline duct
40272001	Congenital absence of coronary sinus
40273006	Gemination of teeth
402767001	Ectodermal syndrome with hair-tooth-sweating defects
402768006	Ectodermal syndrome with hair-sweating defects
402770002	Autosomal dominant ichthyosis
402772005	Autosomal recessive ichthyosis
402774006	Genetic defect of hair shaft
402788005	Genetic disorder of lipid storage
402808004	Congenital vascular malformation due to inherited syndrome
402809007	Congenital malformation of cutaneous lymphatics
402810002	Developmental malformation of branchial arch
40291001	Mietens syndrome
40315008	Annular pancreas
40320008	Double auditory canal
403281007	Congenital onychodysplasia of index fingers
403282000	Congenital malalignment of the toenails
403283005	Congenital pterygium of nail
403284004	Congenital onychoatrophy
403409009	Solitary infantile myofibromatosis
403410004	Multicentric infantile myofibromatosis
403411000	Aggressive systemic infantile myofibromatosis
403438007	Congenital lower lip pits
403442005	Hereditary mucoepithelial dysplasia
403460005	Patent vitelline duct
403461009	Vitelline duct polyp
403532006	Hypertrichosis with congenital macrogingivae
403533001	Vertical alopecia
403534007	Sutural alopecia
403535008	Triangular alopecia
403540000	Congenital pigmented nevus with atypical melanocytic proliferation
40354009	De Lange syndrome
403544009	Port-wine stain with associated anomalies
403545005	Port-wine stain with oculocutaneous melanosis
403546006	Lymphangiomatosis
403547002	Segmental lymphangiomatosis
403548007	Aplasia cutis congenita due to underlying malformation (Type 4)
403549004	Aplasia cutis congenita associated with fetus papyraceus (Type 5)
403550004	Aplasia cutis congenita in association with epidermolysis bullosa (Type 6)
403551000	Aplasia cutis congenita due to teratogenic drug (Type 7)
403552007	Aplasia cutis congenita following intra-uterine infection (Type 8)
403553002	Aplasia cutis congenita secondary to malformation syndrome (Type 9)
403554008	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects)
403556005	Constricting band of extremity
403557001	Midline cervical cleft
403560008	Port-wine stain associated with spinal dysraphism
403561007	Cutaneous lesion resulting from spina bifida
403562000	Rudimentary digit
403756008	Aplasia cutis in Trisomy 13 syndrome
403757004	Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn)
403758009	Café-au-lait spots and ring chromosome 11
403760006	XXYY syndrome
403761005	Poly Y syndrome
403762003	Odonto-onycho-dermal dysplasia
403763008	Aplasia cutis in Johanson-Blizzard syndrome
403764002	Odontomicronychial ectodermal dysplasia
403765001	Port-wine stain in Rubinstein-Taybi syndrome
403766000	Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma
403767009	Acrocephalopolysyndactyly type II
403768004	Acrocephalopolysyndactyly type III
403769007	Cardio-acral-facial syndrome
403770008	Cardio-facio-cutaneous syndrome
403772000	Cleft palate lateral synechia syndrome
403773005	Facial milia, lobate tongue, lingual and labial frenula syndrome
403775003	Hereditary neurocutaneous angiomata
403777006	Lamellar ichthyosis (limited type)
403778001	X-linked dominant chondrodysplasia punctata of Happle
403779009	Ichthyosis, cerebellar degeneration and hepatosplenomegaly
403780007	Autosomal recessive keratitis-ichthyosis-deafness syndrome
403781006	Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
403782004	Ichthyosis follicularis with alopecia and photophobia
403783009	Flexural Darier's disease
403784003	Hypertrophic Darier's disease
403785002	Linear/nevoid/zosteriform Darier's disease
403786001	Acral Darier's disease
403787005	Palmar pitting due to Darier's disease
403788000	Nail dystrophy due to Darier's disease
403794008	Autosomal dominant familial wooly hair
403795009	Autosomal recessive familial wooly hair
403796005	Brittle hair-impaired intellect-decreased fertility-short stature syndrome
403798006	Atrichia congenita
403799003	Congenital hypertrichosis lanuginosa
403801000	Pachyonychia congenita type II of Jackson-Lawler
403802007	Pachyonychia congenita type III of Schafer-Brunauer
403805009	Albinism-deafness syndrome of Tietz
403806005	Ziprkowski-Margolis syndrome
403807001	Phylloid hypomelanosis
403808006	Generalized recessive non-mutilating dystrophic epidermolysis bullosa
403809003	Dystrophic epidermolysis bullosa inverse type
403810008	Epidermolysis bullosa pruriginosa
403813005	Localized congenital cutis laxa
403815003	Axillary freckling due to neurofibromatosis
403816002	Multiple café-au-lait macules due to neurofibromatosis
403817006	Multiple neurofibromas in neurofibromatosis
403819009	Elephantiasis neurofibromatosa
403820003	Café-au-lait macules with pulmonary stenosis
403821004	Café-au-lait macules with temporal dysrhythmia
403822006	Familial multiple café-au-lait macules without neurofibromatosis
403835002	X-linked hyper-immunoglobulin M syndrome
403836001	Autosomal recessive hyperimmunoglobulin M syndrome
403837005	Wiskott-Aldrich autosomal dominant variant syndrome
403855001	Congenital anomaly of digit
403856000	Port-wine stain in proteus syndrome
40389006	12q partial trisomy syndrome
4041005	Congenital anomaly of macula
40467008	Mongolian spot
405287008	Intermediate maple syrup urine disease
405288003	Intermittent maple syrup urine disease
405752007	Congenital atrial septal defect
405769009	Klinefelter's syndrome, XXY
405772002	Congenital kyphoscoliosis
4061000119104	Myelomeningocele without hydrocephalus
40627003	Congenital absence of vein
406476007	Epispadias
406477003	Epispadias, male
407000	Congenital hepatomegaly
40751003	Persistent hyperphenylalaninemia AND tyrosinemia
40802007	Metachromatic leukodystrophy, congenital type
408537003	Barber-Say syndrome
40873003	Sulfite oxidase deficiency syndrome
40888008	Congenital anomaly of the hematopoietic system
40929003	Nevus anemicus
40951006	Primary hyperoxaluria, type II
410060009	Hydrencephalomeningocele
410065004	Congenital anomaly of aortic arch AND/OR descending aorta
410066003	Congenital anomaly in number of teeth
41013004	Argininosuccinate lyase deficiency
41040004	Complete trisomy 21 syndrome
41049003	Holoacardius amorphus
41060007	Pre-eruptive color change of tooth
41069008	Langer-Giedion syndrome
41132007	Dicephalus tripus tribrachius
41215002	Congenital abnormality of uterus, affecting pregnancy
412787009	Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
41279003	Congenital esophagobronchial fistula
41283003	Cerebro-oculo-facio-skeletal syndrome
41300001	X-linked reduction of thyroxine-binding globulin
413221004	Ectopic gastric mucosa - multiple sites
413255001	Pancreas divisum - complete
413256000	Pancreas divisum - incomplete
41337007	Conjoined twins
4135001	11p partial monosomy syndrome
4136000	Macrodactyly of toe
413678004	Bohn's nodule
41371000119100	Shone complex
413905004	Congenital absence of heart structure
413906003	Congenital failure of fusion between maxillary and mandibular processes
414063002	Duane syndrome with vertical deviation
414116002	Epstein's pearl of palate
414342007	Gingival cyst of neonate
41443008	Multiple malformation syndrome with limb defect as major feature
414494005	Infertility due to testicular hypoplasia
41452004	Uterus acollis
414667000	Meningomyelocele
41483000	Multiple malformation syndrome, small stature, without skeletal dysplasia
41495000	Disseminated superficial actinic porokeratosis
41514002	Congenital supravalvular mitral stenosis
41517009	Congenital hypertrophy of sphenoid bone
415176004	Primary congenital glaucoma
41527003	Glycogen storage disease type VIII
415713009	Thoracic hydromeningocele
41572006	Mucopolysaccharidosis III-A
4160001	Congenital anomaly of upper respiratory system
416010008	Hypospadias
416180004	Hemoglobin SS disease without crisis
41620007	Congenital anomaly of lacrimal gland
416214006	Sickle cell-hemoglobin D disease without crisis
416290001	Hemoglobin S sickling disorder without crisis
416377005	Port-wine stain of skin
416417002	Hereditary hemoglobin S
416484003	Sickle cell-hemoglobin E disease with crisis
41656005	Leri's pleonosteosis syndrome
416633008	Congenital hereditary endothelial dystrophy type 1
416638004	Sickle cell-hemoglobin E disease without crisis
416671000	Microspherophakia
416792008	Vein of Galen malformation
416826005	Sickle cell-thalassemia disease with crisis
416834004	Epicapsular star
4170004	Ehlers-Danlos syndrome, procollagen proteinase resistant
417048006	Sickle cell-thalassemia disease without crisis
417161008	Supernumerary canaliculus
417279003	Hemoglobin S sickling disorder with crisis
41729002	Horseshoe kidney
417357006	Sickling disorder due to hemoglobin S
417395001	Congenital hereditary endothelial dystrophy type 2
417425009	Hemoglobin SS disease with crisis
417517009	Sickle cell-hemoglobin C disease with crisis
417604002	Axenfeld-Rieger syndrome
417651000	Congenital hereditary endothelial dystrophy
417658006	Holoanencephaly
417683006	Sickle cell-hemoglobin C disease without crisis
417748003	Sickle cell-hemoglobin D disease with crisis
41788008	Hereditary factor IX deficiency disease
41797007	5,10-Methylenetetrahydrofolate reductase deficiency
418087009	Congenital absence of lacrimal drainage structure
4184009	Congenital anomaly of endocrine gland
418653000	Secondary lens coloboma
41878001	Symbrachydactyly
41893002	Left ventricular-right atrial communication
41895009	Longitudinal deficiency of carpal bone
419097006	Danon disease
419237004	Ectopia lentis et pupillae
419281007	Lentiglobus
419496009	Congenital corneal keloid
4195003	Congenital duplication of anus
419544009	Primary lens coloboma
41962002	Oligohydramnios sequence
4199009	18p partial trisomy syndrome
420049001	Congenital abnormality of lacrimal drainage system
42012007	Neuronal ceroid lipofuscinosis
42162004	Congenital varus deformity of foot
42190000	Congenital absence of abdominal muscle
422348008	Andersen Tawil syndrome
422474003	Partial absence of septum pellucidum
422731002	Dysgenesis of lacrimal punctum
42283001	Cochleate uterus
422977003	Congenital anomaly of tooth
423095007	Congenital plagiocephaly with pelvic obliquity
42323001	Eruption cyst of jaw
42324007	Congenital duplication of cecum
423368008	Congenital pelvic obliquity
423462008	Dural carotid cavernous fistula
42376006	Occipital encephalocele
42402006	Kartagener syndrome
424045003	Myocardial bridge of coronary artery
424087001	Congenital ectopia of lacrimal punctum
4242009	18q partial monosomy syndrome
424286001	Fibrous dysplasia of orbit
42432003	Oto-palato-digital syndrome, type II
424728002	Prepapillary vascular loop
42484009	Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency
425687007	Spina bifida aperta of cervical spine
425871007	Congenital spondylolisthesis of cervical vertebra
42601008	Congenital hemolytic anemia
42618007	Congenital atresia of fallopian tube
426199009	Congenital factor IX deficiency without inhibitor
426387005	Long-chain fatty acid transport deficiency
42666000	Congenital anomaly of tracheal cartilage
42681006	Islet cell hyperplasia
427103005	Congenital contracture of gastrocnemius muscle
427199002	Congenital arteriovenous malformation of small intestine
427216002	Spina bifida aperta of thoracic spine
42725006	Achondrogenesis, type IA
427306008	Hereditary hemoglobinopathy
427791009	Congenital velopharyngeal incompetence
42780004	Congenital lobulation of spleen
427944007	Congenital asymmetry of forehead
42808000	Longitudinal deficiency of tibia
428522008	Congenital anomaly of male urogenital tract
428543009	Congenital vascular malformation of lip
42866003	Congenital coronary artery sclerosis
428680008	Congenital female urogenital anomaly
428862002	Congenital flat back deformity
429200006	Congenital inguinal hernia
42930003	Inborn error of amino acid metabolism
429304004	Congenital vascular malformation of orbit
429448005	Congenital anomaly of anterior segment of eye
429449002	Congenital hypoplasia of fovea centralis
429466000	Spina bifida aperta of lumbar spine
429631000124104	Glanular hypospadias
429641000124109	Coronal hypospadias
429651000124106	Penile shaft hypospadias
429661000124108	Penile mid-shaft hypospadias
429753001	Congenital nonprogressive myopathy with Moebius and Robin sequences
429967001	Cryptotia
430166008	Congenital anomaly of peripheral blood vessel
43036001	Ectromelia
43039008	Mesatipellic pelvis
43063000	Congenital atresia of osseous meatus of middle ear
430686008	Spinal dysgenesis
4313003	Acardiacus anceps
431395004	Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome
43152001	Central core disease
43162008	Ectopic tooth
43176009	Congenital hypoplasia of tricuspid valve
431768007	Congenital malformation of sphenoid wing
43226001	Sarcotubular myopathy
432293006	Congenital anomaly of blood vessel of upper limb
432461000	Congenital anomaly of renal blood vessel
43248007	Penta X syndrome
4325000	11q partial monosomy syndrome
432993002	Congenital absence of quadriceps muscle
43353004	Congenital anomaly of inner ear
43383008	Congenital diverticulum of bronchus
43387009	Fetus in fetu
43420005	9q partial monosomy syndrome
43427008	Ectopic glial tissue
43437003	Submucous cleft of hard palate
43449002	Thyroglobulin proteolysis defect
43465001	Inborn error of lipoprotein metabolism
43476002	Brachydactyly
43557002	Congenital stricture of external auditory canal
4359001	Early congenital syphilis (less than 2 years)
4374004	Congenital anomaly of tricuspid valve
43814000	Atelosteogenesis
438372000	Hereditary factor IX deficiency disease with inhibitor
438504004	Lenz microphthalmia syndrome
438583008	Congenital bilateral perisylvian syndrome
43876007	Situs inversus viscerum
438792009	Hereditary factor IX deficiency disease without inhibitor
438827002	Hereditary thrombophilic dysfibrinogenemia
43910005	Congenital hypoplasia of aorta
439143004	Simpson-Golabi-Behmel syndrome
439145006	Congenital hypofibrinogenemia
43916004	Mucopolysaccharidosis type VII
439258003	Deformity of toe due to amniotic band
43929004	Smith-Lemli-Opitz syndrome
43970002	Congenital stenosis of vagina affecting pregnancy
4397001	Partial congenital duodenal obstruction
440009	Persistent hyperphenylalaninemia
440092001	Endemic congenital iodine deficiency syndrome of myxedematous type
440206000	Hemoglobin SS disease with vasoocclusive crisis
440350001	Fibroblast growth factor receptor 3-related craniosynostosis
440391004	Congenital deformity of scapula
4406004	Congenital anomaly of male genital system
440624006	Deformity of digit of hand due to amniotic band
440866009	Severe hereditary factor IX deficiency disease with inhibitor
440867000	Moderate hereditary factor IX deficiency disease with inhibitor
440868005	Mild hereditary factor IX deficiency disease with inhibitor
441190003	Severe hereditary factor IX deficiency disease without inhibitor
441191004	Moderate hereditary factor IX deficiency disease without inhibitor
441192006	Mild hereditary factor IX deficiency disease without inhibitor
441686004	Delta phalanx of finger
441944007	Oto-onycho-peroneal syndrome
44215001	Radiation chimera
442300000	Rhombencephalosynapsis
44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency
442917000	Congenital long QT syndrome
44295002	Congenital coloboma of optic disc
44315004	Congenital absence of auricle with stenosis of auditory canal
443379009	Functional single ventricle
4434006	Bloom syndrome
443905007	Developmental dislocation of ankle and/or foot
444108000	Acute sickle cell splenic sequestration crisis
44444001	Longitudinal deficiency of ulna
444462006	Developmental dislocation of joint of shoulder region
444550009	Developmental anomaly of odontoid process of axis
444667006	Congenital deformity of pharynx
444707001	Glycogen storage disease type Ia
444844007	Congenital aplasia of odontoid process
444851003	Bifid apex of heart
444860006	Meningomyelocele of lumbosacral spine
444869007	Cavernous hemangioma of brain
444944006	Deficiency of 2,4-dienoyl-coenzyme A reductase
444961009	Atrioventricular septal defect with common atrioventricular orifice
444964001	Lungs in mirror image arrangement
444976001	Congenital hemolytic uremic syndrome
445002005	Atrioventricular septal defect with separate atrioventricular orifices
445027003	Left superior caval vein persisting to coronary sinus
445106006	Congenital dilation of left pulmonary artery
445109004	Isolation of left common carotid artery
445116003	Encephalocele of vertex
44513007	Congenital anomaly of the kidney
445167000	Congenital dilation of right pulmonary artery
445175006	Symbrachydactyly of toe
445176007	Congenital dilation of ascending aorta
44518003	Celosomus
445208002	Congenital hypoplasia of right pulmonary artery
445209005	Congenital hypoplasia of left pulmonary artery
445257004	Nance-Horan syndrome
445264002	Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle
445268004	Apex of heart anterior to cardiac base
445270008	Aortic orifice left side by side with respect to pulmonary orifice
445294008	Common atrioventricular orifice in double inlet ventricle
445296005	Infracardiac location of anomalous pulmonary venous connections to portal system
445298006	Aortic orifice anterior with respect to pulmonary orifice
445299003	Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle
445306000	Cleft of alveolar ridge
445307009	Spina bifida of sacral region
445308004	Split spinal cord malformation
445330003	Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice)
445334007	Atrioventricular septal defect with additional muscular ventricular septal defect
445338005	Testicular dysgenesis syndrome
445349004	Isolation of right common carotid artery
445350004	Isolation of left subclavian artery
445351000	Isolation of right subclavian artery
445371009	Infracardiac location of anomalous pulmonary venous connections to inferior caval vein
445373007	Aortic orifice posterior with respect to pulmonary orifice
445435009	Apex of heart posterior to cardiac base
445436005	Left superior caval vein persisting to left sided atrium
445468002	Occipital meningocele
445486004	Congenital malformation of blood vessel of orbit proper
44553005	Dubin-Johnson syndrome
445542007	Hemoglobin O-Arab trait
445543002	Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums
445554007	Congenital asymmetry of tonsils
445607003	Aortic orifice posterior left with respect to pulmonary orifice
445636003	Aortic orifice anterior right with respect to pulmonary orifice
445650008	Aortic orifice anterior left with respect to pulmonary orifice
445898001	Abnormal atrial arrangement
445928005	Eisenmenger's syndrome
44593008	Orbital separation diminished
44621005	Congenital anomaly of organ of Corti
44622003	Congenital hypoplasia of umbilical artery
446326008	Premature restriction of foramen ovale
446432002	Pulmonary venous hypoplasia
446449009	Renal coloboma syndrome
44647001	Persistent hyaloid artery
4465002	Spherophakia
446656007	Mirror image bronchial anatomy
446657003	Criss-cross heart with rightward rotation
446659000	Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle
446667008	Two atrioventricular valves in double inlet ventricle
446670007	Aortic orifice right side by side with respect to pulmonary orifice
446890001	Obstructed pulmonary venous connection at coronary sinus orifice
446909006	Midline apex of heart
446916007	Functionally univentricular heart
446923008	Lipoprotein glomerulopathy
44697002	Melorheostosis
447085008	Functionally congenital single lung
44710007	Anomaly of chromosome pair 6
447117006	Hemoglobin H constant spring thalassemia
447269006	Persistent common pulmonary vein
447275002	Alveolar capillary dysplasia with pulmonary venous misalignment
447283008	Solitary ventricle of indeterminate morphology
447284002	Double outlet right ventricle with intact ventricular septum
447285001	Ventricular imbalance
447286000	Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle
447289007	Criss-cross heart with leftward rotation
447415007	Median raphe cyst of penis
447660003	Retroaortic brachiocephalic vein
447661004	Diverticulum of coronary sinus
447663001	Pulmonary venous confluence remote from left atrium
447664007	Partial anomalous pulmonary venous connection of part of left lung
447665008	Interatrial communication through coronary sinus orifice
447666009	Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium
447667000	Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium
447668005	Discontinuous pulmonary arteries
447669002	Hypoplasia of left heart without intrinsic valve stenosis and without atresia
447670001	Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve
447671002	Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve
447672009	Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve
447673004	Right ventricle to left of left ventricle
447674005	Right bronchial isomerism
447681003	Continuity between mitral valve and pulmonary valve
447683000	Discontinuity between mitral valve and pulmonary valve
447689001	Prolapse of Eustachian valve through atrial septum
447690005	Prolapse of Eustachian valve through tricuspid valve
447691009	Pulmonary venous confluence in direct proximity to left atrium
447696004	Unicommissural unicuspid aortic valve
447697008	Unicommissural unicuspid pulmonary valve
447698003	Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve
447700007	Distal aortopulmonary window with minimal superior rim
447701006	Intermediate aortopulmonary window with adequate superior and inferior rim
447702004	Confluent aortopulmonary window with minimal superior and inferior rim
447703009	Double aortic arch with left arch dominant and coarctation of right arch
447772003	Persisting fifth aortic arch with double barrell arch
447773008	Proximal aortopulmonary window with minimal inferior rim
447774002	Congenital midvalvar ring of mitral leaflet
447779007	Trifoliate left atrioventricular valve
447780005	Restrictive interatrial communication with obligatory shunt
447810006	Congenital stenosis of trachea due to complete rings
447811005	Congenital stenosis of trachea due to tracheal web
447812003	Left superior vena cava persisting to right atrium and left atrium
447813008	Pulmonary venous confluence in horizontal orientation
447814002	Pulmonary venous confluence in vertical orientation
447821002	Congenital posterolateral diaphragmatic hernia
447822009	Congenital prolapse of aortic valve
447823004	Congenital abnormality of hepatic vein
447824005	Congenital abnormality of left atrium
447825006	Congenital abnormality of middle cardiac vein
447827003	Partial anomalous pulmonary venous connection of entire right lung
447829000	Congenital abnormality of tricuspid chordae tendinae
447830005	Congenital abnormality of tricuspid leaflet
447832002	Total anomalous pulmonary venous connection of supracardiac type
447838003	Pulmonary atresia and ventricular septal defect with aorta from left ventricle
447839006	Pulmonary atresia and ventricular septal defect with aorta from right ventricle
447845003	Right ventricle posterior to left ventricle
447849009	Double aortic arch with right arch dominant and atresia of left arch
447850009	Double aortic arch with right arch dominant and coarctation of left arch
447851008	Congenital tracheoesophageal fistula with esophageal stenosis
447852001	Ventricular septal defect of inlet of right aspect of ventricular septum
447860000	Partial anomalous pulmonary venous connection of part of right lung
447861001	Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence
447874007	Congenital abnormality of atrial septum
447875008	Congenital mass of mitral leaflet
447876009	Congenital aneurysm of subaortic left ventricle
447901004	Aortopulmonary window with tubular connection
447902006	Atresia of left superior vena cava
447903001	Coarctation of right pulmonary artery
447913009	Completely unroofed coronary sinus defect in left atrium
447914003	Total anomalous pulmonary venous connection of intracardiac type
447915002	Ebstein's anomaly of left sided tricuspid valve with discordant atrioventricular connections
447917005	Liver in central position
447919008	Univentricular atrioventricular connection with absent right sided atrioventricular connection
447928009	Double aortic arch with balanced arches
447929001	Double aortic arch with left arch dominant
447930006	Double aortic arch with right arch dominant
447932003	Double outlet ventriculoarterial connections
447933008	Nonfenestrated interatrial communication within oval fossa
447937009	Congenital abnormality of aortic valve cusp
447938004	Congenital abnormality of cardiac vein
447939007	Partial anomalous pulmonary venous connection of entire left lung
447941008	Residual ventricular septal defect
447943006	Tripartite right ventricle
44796002	Ectopic ureter
447962009	Divided left atrium with restrictive outlet of proximal chamber to left atrium
447968008	Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava
447970004	Double aortic arch with left arch dominant and atresia of right arch
447988007	Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch
447997006	Vascular ring with retrotracheal right pulmonary artery from ascending aorta
447998001	Single ventricular outlet above right ventricle
447999009	Single ventricular outlet above left ventricle
448000003	Right superior vena cava connecting to left atrium and right atrium
448004007	Acommissural unicuspid pulmonary valve
448005008	Atresia of systemic vein
448007000	Atrioventricular septal defect associated with tetralogy of Fallot
448016001	Congenital aneurysm of systemic artery
448026008	Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet
448028009	Congenital left ventricular submitral valve aneurysm
448059006	Pulmonary trunk absent with absent left pulmonary artery
448060001	Pulmonary trunk absent with absent right pulmonary artery
448062009	Ventricular septal defect with malaligned outlet septum
448063004	Congenital abnormality of posterior cardiac vein of left ventricle
448064005	Congenital abnormality of right atrium
448065006	Congenital abnormality of systemic vein
448066007	Divided left atrium with nonrestrictive outlet of proximal chamber to left atrium
448072007	Single inlet ventricle with absent atrioventricular connection
448073002	Congenital abnormality of tricuspid papillary muscle
448074008	Ebstein's anomaly with functional tricuspid stenosis
448075009	Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve
448078006	Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery
448079003	Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery
448080000	Single ventricular outlet above ventricle of indeterminate morphology
448081001	Hepatic vein to coronary sinus
448084009	Absent pulmonary trunk
448085005	Acommissural unicuspid aortic valve
448086006	Atresia of pulmonary trunk with absent left pulmonary artery
448087002	Atresia of pulmonary trunk with absent right pulmonary artery
448092000	Vascular ring due to aberrant subclavian artery and bilateral arterial ducts
448095003	Aortic left ventricular tunnel with right coronary artery from tunnel
448096002	Aberrant origin of left subclavian artery
448097006	Abnormal course of aortic arch
448103004	Right ventricle inferior to left ventricle
448105006	Anomalous origin of pulmonary artery from patent arterial duct
448113007	Right superior vena cava connecting to coronary sinus
448118003	Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves
448119006	Atrioventricular septal defect with atrioventricular valve regurgitation
448120000	Common arterial trunk with crossed over pulmonary arteries
448153005	Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal right subclavian artery
448154004	Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum
448155003	Pulmonary atresia with ventricular septal defect of Fallot type
448161000	Aortic valve overriding ventricular septum
448162007	Bipartite right ventricle
448164008	Cecum in left sided position
448181004	Anomalous coronary venous return
448182006	Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet
448183001	Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet
448184007	Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices
448202002	Left bronchial isomerism
448227009	X-linked periventricular heterotopia
448277007	Midline posterior apex of heart
448278002	Coronary sinus drainage cephalad to left superior vena cava
448280008	Malalignment of aortic sinus in relation to pulmonary sinus
448303009	Vascular ring with left aortic arch to right descending aorta and right arterial ligament
448304003	Vascular ring with left aortic arch to right descending aorta and right patent arterial duct
448305002	Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct
448320008	Divided left atrium with some pulmonary veins to proximal chamber
448326002	Right inferior vena cava connecting to left atrium and right atrium
448331000	Atrioventricular septal defect with restrictive ventricular component
448332007	Left superior vena cava persisting to right sided atrium
448356006	Coronary sinus drainage cephalad to right superior vena cava
448357002	Midline anterior apex of heart
448412007	Tracheal origin of right upper lobe bronchus
448413002	Pulmonary valve overriding ventricular septum
448415009	Subaortic stenosis due to common atrioventricular valve
448471006	Congenital abnormality of ascending aorta
448472004	Congenital abnormality of pulmonary trunk
448475002	Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type
448477005	Superior to inferior ventricular relationship
448478000	Systemic to pulmonary collateral artery from coronary artery
448479008	Ductus arteriosus from brachiocephalic artery
448480006	Ductus arteriosus from left subclavian artery
448486000	Anomalous pulmonary to systemic collateral vein
448487009	Anomalous pulmonary venous connection of mixed type
448493001	Stomach in central position
448495008	Stomach in right sided position
448497000	Congenital deformity of mitral valve annulus
448499002	Infracardiac location of anomalous pulmonary venous connection
448500006	Intracardiac location of anomalous pulmonary venous connection
448501005	Interrupted left inferior vena cava
448516008	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
448517004	Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery
448574001	Unipartite right ventricle
448575000	Fenestrated interatrial communication within oval fossa
448577008	Muscular subvalvar atresia of aorta
448595006	Scimitar syndrome with additional anomalous pulmonary venous connection
448599000	Total anomalous pulmonary venous connection of infracardiac type
448602005	Spleen in right sided position
448604006	Congenital abnormality of pulmonary valve cusp
448611005	Vascular ring with left aortic arch and retrotracheal right patent arterial duct
448612003	Single ventricular outlet above both ventricles
448614002	Inferior vena cava anterior and same side as descending aorta
448619007	Anterior deviation of infundibular septum of Fallot type
448620001	Azygos continuation of inferior vena cava to right superior vena cava
448624005	Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve
448625006	Univentricular atrioventricular connection with absent left sided atrioventricular connection
448626007	Gelatinous atrioventricular valve leaflet in atrioventricular septal defect
448627003	Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery
448628008	Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery
448629000	Vascular ring with left aortic arch and right arterial ligament
448630005	Vascular ring with left aortic arch and right patent arterial duct
448631009	Right inferior vena cava connecting to left sided atrium
448632002	Left inferior vena cava connecting to left atrium and right atrium
448634001	Absent aortic valve cusp
448635000	Absent ductus venosus
448637008	Coarctation of left pulmonary artery
448645003	Aortic arch hypoplasia between subclavian and common carotid arteries
448646002	Aortic arch hypoplasia distal to subclavian artery
448647006	Bilateral bilobed lungs due to isomerism of left lung
448648001	Bilateral trilobed lungs due to isomerism of right lung
448681000	Indeterminate atrial arrangement
448683002	Liver in left sided position
448721009	Abnormal course of aortic arch and descending aorta
448726004	Parallel course of aorta and pulmonary artery
448727008	Total anomalous pulmonary venous connections of mixed type
448728003	Supracardiac location of anomalous pulmonary venous connection
448729006	Common atrioventricular valve in functionally univentricular heart
448747000	Common arterial trunk with pulmonary origin from truncal valve sinus
448780007	Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum
448782004	Interrupted right inferior vena cava
448786001	Posterior deviation of infundibular septum of obstructive aortic arch type
448790004	Anterior-posterior orientation of bicuspid aortic valve
448793002	Bicuspid truncal valve
448794008	Double outlet right ventricle with subpulmonary ventricular septal defect
448809003	Common arterial trunk with obstruction of aortic arch
448819009	Right-left orientation of bicuspid aortic valve
448827000	Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim
448842002	Aortico-left ventricular tunnel of simple type
448843007	Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall
448844001	Multiple mitral papillary muscles with hammock valve
448872008	Systemic venovenous collateral vein
448876006	Subarterial ventricular septal defect
448887003	Common arterial trunk with isolated pulmonary artery
448915004	Cleft of hard palate
448919005	Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest
448920004	Congenital abnormality of mitral subvalvular apparatus
448923002	Hypoplasia of infundibular septum
448946000	Anterior-posterior orientation of bicuspid pulmonary valve
448947009	Congenital abnormality of left atrioventricular valve in double inlet ventricle
448948004	Overriding ventriculoarterial valve
448965008	Inferior vena cava connecting to right atrium and left atrium
448966009	Hypoplasia of trabecular portion of right ventricle
448968005	Persisting fifth aortic arch with atresia of fourth arch
448975006	Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall
449005003	Absence of mitral chordae tendinae
449009009	Left inferior vena cava connecting to left sided atrium
449010004	Left inferior vena cava connecting to right sided atrium
449014008	Hepatic vein to left sided atrium
449015009	Hepatic vein to right sided atrium
449016005	Hepatic vein to left atrium and right atrium
449025004	Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery
449027007	Distal origin of brachiocephalic artery with tracheal compression
449029005	Imperforate ventriculoarterial valve
449031001	Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle
449032008	Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle
449037002	Truncal valve overriding ventricular septum
449040002	Hypoplasia of right atrioventricular valve annulus in double inlet ventricle
449085001	Pulmonary artery connecting to coronary artery via collateral artery
449086000	Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart
449087009	Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart
449098005	Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle
449099002	Left atrioventricular valve stenosis in double inlet ventricle
449110001	Congenital billowing of mitral valve leaflet
449111002	Double orifice of right atrioventricular valve in double inlet ventricle
449116007	Tricuspid but functionally bicuspid aortic valve
449123008	Eccentric opening of tricuspid aortic valve
449124002	Eccentric opening of tricuspid pulmonary valve
449125001	Congenital stenosis of pulmonary artery
449133000	Absence of pulmonary valve cusp
449135007	Congenital stenosis of mitral subvalvular apparatus
449139001	Commissural fusion of truncal valve
449140004	Right-left orientation of bicuspid pulmonary valve
449158005	Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber
449178002	Doubly committed ventricular septal defect in double outlet ventriculoarterial connection
449188001	Left superior vena cava persisting to coronary sinus and then to right sided atrium
449190000	Muscular ventricular septal defect in trabecular septum
449228007	Hypoplasia of left atrioventricular valve annulus in double inlet ventricle
449232001	Aortic arch hypoplasia between carotid arteries
449270002	Hypoplasia of mitral valve annulus
449315003	Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle
449316002	Congenital abnormality of right atrioventricular valve in double inlet ventricle
449350006	Pulmonary artery with absent proximal arterial connection
449353008	Hypoplasia of trabecular portion of left ventricle
449354002	Hypoplasia of pulmonary cusps of absent pulmonary valve type
449379004	Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum
449382009	Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect
449383004	Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect
449385006	Confluent muscular ventricular septal defect
449398002	Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion
44940001	Adenosine deaminase deficiency
449425007	Intracardiac location of anomalous pulmonary venous connection to coronary sinus
449426008	Left sided azygos continuation of inferior vena cava to left superior vena cava
449427004	Double aortic arch with right arch dominant and left arch patent
449428009	Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication
449429001	Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium
449430006	Double aortic arch with left arch dominant and right arch patent
449434002	Supracardiac location of anomalous pulmonary venous connection to left superior vena cava
449435001	Infracardiac location of anomalous pulmonary venous connection with two descending veins
449436000	Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium
449439007	Absent ductus venosus with direct connection of umbilical vein to right atrium
449440009	Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with extracardiac pulmonary venous chamber communication
449441008	Divided left atrium with all pulmonary veins to proximal chamber without communication to left atrium with pulmonary venous chamber communication to right atrium
449442001	Congenital abnormality of great cardiac vein
449443006	Supracardiac location of anomalous pulmonary venous connection to left sided vertical vein
449444000	Infracardiac location of anomalous pulmonary venous connection to hepatic vein
449445004	Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries
449451009	Supracardiac location of anomalous pulmonary venous connection to hemiazygos vein
449452002	Intracardiac location of anomalous pulmonary venous connection to right atrium
449455000	Abnormal attachment of tricuspid chordae tendinae
449456004	Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure
449457008	Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure
449458003	Right superior vena cava connecting to coronary sinus and then to left sided atrium
449459006	Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure
449479003	Malattachment of atrial septum
449486006	Absent ductus venosus with direct connection of umbilical vein to renal vein
449490008	Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure
449492000	Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber communication to right atrium
449493005	Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein
449494004	Supracardiac location of anomalous pulmonary venous connection to right superior vena cava
449495003	Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus
4495005	Congenital hypertrophy of ureteric valve
449511008	Imperforate left ventriculoarterial valve
449512001	Imperforate right ventriculoarterial valve
449513006	Anomalous pulmonary venous connection of mixed type with one pulmonary venous confluence
449514000	Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria
449516003	Separate hepatic vein and inferior vena cava connections to heart
449521000	Anomalous pulmonary venous connection of mixed type with two pulmonary venous confluences
449523002	Right superior vena cava persisting to coronary sinus and then to right sided atrium
449527001	Absent ductus venosus with direct connection of umbilical vein to inferior vena cava
449532000	Congenital abnormality of anterior cardiac vein
449533005	Supracardiac location of anomalous pulmonary venous connection to azygos vein
449534004	Obstructed interchordal space of tricuspid chordae tendinae
449536002	Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum
449537006	Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure
449538001	Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure
449539009	Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure
449547009	Right pulmonary artery with absent proximal arterial connection
449563001	Absence of primary mitral chordae tendinae
449567000	Overriding left ventriculoarterial valve
449568005	Overriding right ventriculoarterial valve
449576007	Left pulmonary artery with absent proximal arterial connection
449587004	Divided left atrium with all pulmonary veins to proximal chamber and then to left atrium with additional pulmonary venous chamber extracardiac communication
449593007	Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting directly to left atrium
449594001	Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium and others connecting anomalously
449595000	Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting anomalously
449596004	Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting directly to left atrium
449599006	Malattachment of atrial septum with posterior aspect of septum primum to left
449600009	Malattachment of atrial septum with superior aspect of septum primum to left and posterior
44964000	Congenital fusion of testis
449682004	Congenital absence of part of upper limb
449683009	Congenital absence of part of upper arm
449692007	Congenital shortening of upper arm
449770003	Botryoid odontogenic cyst
449777000	Transient infantile osteopetrosis
449790007	Orofacial cleft
449817000	Peters plus syndrome
449818005	22q11 partial monosomy syndrome
449819002	3p partial monosomy syndrome
449821007	Branchiooculofacial syndrome
449866003	Vitreoretinal dysplasia
449870006	Congenital anomaly of blood vessel of limb
449871005	Congenital anomaly of blood vessel of lower limb
449904002	Intramedullary glomus arteriovenous malformation of spinal cord
449905001	Intramedullary and extramedullary arteriovenous malformation of spinal cord
450300002	Anomalous origin of right coronary artery from pulmonary artery
450301003	Anomalous origin of left coronary artery from pulmonary artery
450302005	Anomalous origin of left anterior descending coronary artery from pulmonary artery
450303000	Congenital pericardial effusion
450304006	Coarctation of suprarenal abdominal aorta
450305007	Coarctation of infrarenal abdominal aorta
450306008	Major systemic to pulmonary collateral artery supplying both lungs
450307004	Major systemic to pulmonary collateral artery supplying entire right lung
450308009	Major systemic to pulmonary collateral artery supplying entire left lung
450309001	Major systemic to pulmonary collateral artery supplying part of right lung
450310006	Major systemic to pulmonary collateral artery supplying part of left lung
450311005	Major systemic to pulmonary collateral artery supplying unknown zone of distribution
450312003	Coarctation of aorta between subclavian artery and common carotid artery
450313008	Coarctation of aorta between left common carotid artery and right common carotid artery
450314002	Vascular ring with right aortic arch and left patent ductus arteriosus
450315001	Vascular ring with right aortic arch and left ligamentum arteriosum
450808003	Bathrocephaly
450849003	Congenital monosaccharide malabsorption
451030007	Urachal sinus
45142002	Congenital pulmonary lymphangiectasis
45163000	Congenital pontocerebellar hypoplasia
45237002	Congenital dilatation of aorta
4530000	Madelung's deformity
45366001	Hereditary dysfibrinogenemia
45390000	Severe combined immunodeficiency due to absent interleukin-2 production
45414006	Glucocorticoid deficiency with achalasia
45482001	Partial aphalangia of upper limb
45484000	Partial ablepharon
45492009	Congenital stenosis of superior vena cava
45503006	Common ventricle
45525000	16q partial trisomy syndrome
45582004	Rubinstein-Taybi syndrome
45615004	Manus cava
45795007	Melanosis oculi
45798009	Congenital cardiospasm
458039003	Anomalous origin of left circumflex coronary artery from pulmonary artery
458040001	Thoracopagus with separate hearts and pericardial sacs
458041002	Thoracopagus with separate hearts and common pericardial sac
458042009	Thoracopagus with conjoined atria
458043004	Thoracopagus with conjoined atria and ventricles
458044005	Rachipagus
45806008	Reduction deformity of upper limb
458085000	Parapagus
458086004	Dithoracic parapagus
458087008	Dicephalic parapagus
458088003	Major systemic to pulmonary collateral artery
458422009	Malrotation of intestine with midgut volvulus
458427003	Bridging bronchus
459054000	Malrotation of intestine with internal herniation
459062008	Fatal congenital nonlysosomal heart glycogenosis
459063003	Congenital disorder of glycosylation type Ia
459065005	Congenital atresia of left main stem coronary artery
459066006	Anomalous origin of accessory coronary artery from pulmonary artery
459164007	Systemic to pulmonary collateral artery from descending thoracic aorta
459165008	Systemic to pulmonary collateral artery from abdominal aorta
459173004	Infective endarteritis at site of aortopulmonary window
45920002	Pelvis plana
45963004	Factor XI deficiency, type III
45987002	Congenital shortening of tendon
4602007	Robin sequence
460307002	Systemic to pulmonary collateral artery from right carotid artery
460312001	Systemic to pulmonary collateral artery from left carotid artery
460365008	Systemic to pulmonary collateral artery from right renal artery
460370001	Systemic to pulmonary collateral artery connecting with artery
460375006	Systemic to pulmonary collateral artery from left renal artery
460380002	Systemic to pulmonary collateral artery from right brachiocephalic artery
460387004	Systemic to pulmonary collateral artery from left brachiocephalic artery
46041001	Maffucci syndrome
460437005	Anomalous origin of dual left anterior descending coronary arteries from right coronary artery and left coronary artery
460438000	Anomalous origin of large conus artery from right coronary artery
460471001	Anomalous origin of conus artery from separate aortic sinus orifice
460510005	Anomalous origin of coronary arteries from anterior aortic sinus
460517008	Anomalous origin of coronary arteries from both aortic sinuses of bicuspid valve
460524009	Anomalous origin of right coronary artery from left anterior descending coronary artery
460531008	Anomalous origin of right coronary artery from left circumflex coronary artery
460538002	Anomalous origin of left coronary artery from right coronary artery
460545002	Congenital atresia of right coronary artery orifice
460581004	Anomalous origin of accessory coronary artery from aortic sinus
460582006	Anomalous origin of left coronary artery and right coronary artery from pulmonary artery
460583001	Anomalous origin of sinus node coronary artery from separate aortic sinus orifice
460584007	Anomalous course of coronary artery posterior to pulmonary trunk
460585008	Anomalous course of coronary artery posterior to aorta
460586009	Anomalous origin of right coronary artery from left coronary artery
460587000	Anomalous origin of single coronary artery from left coronary artery aortic sinus
460588005	Anomalous origin of left circumflex coronary artery from right coronary aortic sinus
460589002	Vascular ring with right aortic arch and left ligamentum arteriosum between left subclavian artery and left common carotid artery
460590006	Vascular ring with right aortic arch and left ligamentum arteriosum with anomalous retroesophageal left subclavian artery
460591005	Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal left subclavian artery
460592003	Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta and anomalous left subclavian artery
460593008	Vascular ring with right aortic arch and left ductus arteriosus from anomalous retroesophageal brachiocephalic artery
460594002	Vascular ring with right aortic arch and left ductus arteriosus from retroesophageal diverticulum of aorta
460595001	Systemic to pulmonary collateral artery connecting with central pulmonary arteries
460596000	Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries
460597009	Systemic to pulmonary collateral artery connecting with tracheobronchial arteries
460604001	Anomalous origin of ductus arteriosus from right carotid artery
460605000	Anomalous origin of ductus arteriosus from left carotid artery
460606004	Anomalous origin of ductus arteriosus from ascending aorta
460607008	Anomalous origin of ductus arteriosus from aortic arch
460608003	Anomalous origin of ductus arteriosus from left brachiocephalic artery
460609006	Anomalous insertion of ductus arteriosus
460610001	Anomalous insertion of ductus arteriosus into pulmonary trunk
460611002	Anomalous insertion of ductus arteriosus into right pulmonary artery
460614005	Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle
460880006	Arteriovenous fistula of great cerebral vein of Galen
460890003	Anomalous common origin of brachiocephalic artery and left common carotid artery
460899002	Anomalous origin of left common carotid artery from brachiocephalic artery
460906001	Vascular ring with mirror image branching of right aortic arch and left ligamentum arteriosum
460913001	Systemic to coronary collateral artery
460923005	Anomalous origin of right coronary artery from left coronary artery aortic sinus
460930004	Anomalous origin of left coronary artery from right coronary aortic sinus
460937001	Anomalous origin of single coronary artery from right coronary artery aortic sinus
460944005	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
46100008	Parasitic twin of asymmetrical conjoined twins
461090007	Right ductus arteriosus
461091006	Patent right ductus arteriosus
461093009	Bilateral ductus arteriosus
461094003	Bilateral ductus arteriosus with patent left ductus arteriosus and closed right ductus arteriosus
461095002	Bilateral ductus arteriosus with closed left ductus arteriosus and patent right ductus arteriosus
461096001	Bilateral patent ductus arteriosus
461097005	Bilateral closed ductus arteriosus
461101001	Anomalous origin of ductus arteriosus from distal descending aorta
461102008	Anomalous insertion of ductus arteriosus into distal left pulmonary artery
461103003	Anomalous origin of ductus arteriosus from right subclavian artery
461104009	Interruption of coronary artery
461105005	Anomalous origin of coronary artery from aorta
461107002	Single coronary artery dividing into right coronary artery and left coronary artery
461109004	Anomalous course of coronary artery anterior to pulmonary trunk and aorta
461110009	Anomalous course of coronary artery posterior to pulmonary trunk and aorta
461111008	Anomalous course of coronary artery anterior to aorta
461112001	Anomalous course of coronary artery anterior to pulmonary trunk
461326001	Anomalous separate origins of internal carotid arteries and external carotid arteries from single aortic arch
461331004	Malposition of coronary artery orifice
461345005	Coronary artery orifice abnormally low
461359003	Common coronary artery orifice
461366002	Congenital hypoplasia of descending aorta
461371009	Congenital hypoplasia of abdominal aorta
461376004	Congenital hypoplasia of thoracoabdominal aorta
461381008	Anomalous intramural course of proximal portion of coronary artery within aortic sinus
461382001	Anomalous intramural course of proximal portion of coronary artery across commissure of aortic valve
461383006	Anomalous intramural course of proximal portion of coronary artery above aortic sinus
461384000	Anomalous course of coronary artery across right ventricular outflow tract
461385004	Anomalous course of coronary artery through infundibular septum
461386003	Patent ductus arteriosus with normal origin and insertion
461387007	Anomalous origin of left ductus arteriosus from right aortic arch
461388002	Anomalous origin of right ductus arteriosus from right aortic arch
461389005	Anomalous origin of ductus arteriosus from aortic diverticulum
461390001	Anomalous insertion of ductus arteriosus into unknown site
461420008	Anomalous coronary artery with acute angulation of less than 45 degrees relative to aorta
461421007	Anomalous coronary artery without acute angulation of less than 45 degrees relative to aorta
461433002	Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation
461434008	Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation
461435009	Anomalous origin of left anterior descending coronary artery from right coronary artery aortic sinus
461436005	Anomalous origin of dual left anterior descending coronary arteries
461438006	Double barrel dual coronary artery orifices within aortic sinus
461439003	Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus
461440001	Congenital abnormality of systemic artery
461557000	Congenital atresia of aortic arch
461562004	Atresia of aortic arch with fibrous cord
461567005	Atresia of aortic arch with fibrous cord distal to subclavian artery
461572001	Atresia of aortic arch with fibrous cord between subclavian artery and common carotid artery
461577007	Atresia of aortic arch with fibrous cord between left common carotid artery and right common carotid artery
461587006	Congenital luminal atresia of aortic arch distal to subclavian artery
461592008	Congenital luminal atresia of aortic arch between subclavian artery and common carotid artery
461597002	Congenital luminal atresia of aortic arch between left common carotid artery and right common carotid artery
461629004	Right aortic arch branching pattern
46235002	Early latent congenital syphilis, positive serology, negative spinal fluid
46248003	Hemoglobin E trait
46284005	Congenital obstruction of bladder neck
46395002	Multiple renal arteries
46434000	Assimilation pelvis
46619002	Congenital heart block
46659004	Von Hippel-Lindau syndrome
4667004	Female infertility due to structural congenital anomaly of vagina
46683007	Pyruvate dehydrogenase complex deficiency
46698009	Dicephalus dipus dibrachius
46722007	Congenital anomaly of pleural folds
46760003	Estren-Dameshek anemia
46804001	Severe x-linked myotubular myopathy
46829007	Developmental displacement of brachial plexus
46907007	Congenital duplication of gallbladder
46965001	Agenesis of left lung
47017007	Ring chromosome 1 syndrome
4702003	Inherited disorder of folate metabolism
47024008	Sickle cell-hemoglobin E disease
47028006	Congenital hiatus hernia
47032000	Congenital hydrocephalus
47047009	Thalassemia with other hemoglobinopathy
47054003	Septate vagina
47070001	Congenital web of larynx
47082005	Congenital rubella pneumonitis
47084006	beta^+^ Thalassemia, normal Hb A>2<, type 1, silent
4711003	Congenital anomaly of bile ducts
471274000	Systemic to pulmonary collateral artery contributing to dual lung supply
471276003	Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery
471277007	Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery
471285003	Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus
471286002	Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus
471287006	Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus
471288001	Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus
471289009	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
471290000	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
471291001	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
471292008	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
471293003	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
471294009	Congenital pericardial cyst
471297002	Anomalous origin of single coronary artery from nonfacing aortic sinus
471298007	Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus
471299004	Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus
47139007	Congenital leukonychia
47147007	Congenital anomaly of lung
47206001	Long tubular intestinal duplication
472101004	Interruption of aortic arch distal to subclavian artery
472102006	Interruption of aortic arch between subclavian artery and common carotid artery
472103001	Interruption of aortic arch between left common carotid artery and right common carotid artery
472133008	Congenital tortuosity of branch of aortic arch
472703008	Pseudoacardia
47276000	Congenital absence of femur
472777008	Congenital intrapericardial cyst
472778003	Congenital extrapericardial cyst
472792009	Congenital abnormality of supraaortic branch of thoracic aorta
472796007	Congenital subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart
472801002	Congenital subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart
472820000	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
472823003	Cecoureterocele
473362006	Congenital stenosis of distal coronary artery
473393007	Congenital occlusion of coronary sinus
473394001	Congenital occlusion of iliac vein
473395000	Congenital occlusion of femoral vein
473443007	Anomalous origin of right coronary artery
473444001	Anomalous origin of left coronary artery
47434006	Waardenburg's syndrome
4749004	Naso-palatine duct cyst
47507006	Rieger syndrome
47526003	Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency
47535005	Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association
47583008	Congenital anomaly of the pelvis
47686007	Incomplete bilateral cleft palate
47713000	Congenital absence of humerus
47719001	Hypervalinemia
47757001	Corticosterone 18-monooxygenase deficiency
47880003	Congenital absence of muscle AND/OR tendon
47895001	Congenital emphysema
48008009	Manus vara
48043005	Pelvis justo minor
48061001	Congenital calculus of kidney
48069004	Acrocephaly
48082007	Anomaly of chromosome pair 8
48121000	Congenital cardiomegaly
48180002	Otocephalic syndrome
48249002	Congenital anisocoria
48301005	Congenital absence of finger
48334007	Congenital dislocation of hip
48337000	Congenital stricture of urinary meatus
48376004	Congenital pseudoporencephaly
48449000	Congenital macrodactyly
48520006	Congenital atresia of cardiac vein
48528004	Recessive dystrophic epidermolysis bullosa
48543002	Nevus of Ito
48553001	Hemoglobin H disease
48607003	Accessory parotid gland
48611009	Darier disease
48637007	Multiple malformation syndrome with early overgrowth
48644003	Congenital hypertrophic pyloric stenosis
48672005	Accessory fallopian tube
48718006	Roberts-SC phocomelia syndrome
4874006	11q partial trisomy syndrome
48760005	10p partial trisomy syndrome
48763007	Congenital hernia of foramen of Morgagni
48777005	Cranioschisis
48796009	Congenital nephrotic syndrome
48812004	17q partial trisomy syndrome
4887000	Hypertyrosinemia, Richner-Hanhart type
48980001	Congenital obstruction of urethra
48983004	X chromosome-linked sideroblastic anemia
49008000	Malrotation of kidney
49013001	17 alpha-Hydroxyprogesterone aldolase deficiency
49024004	4p partial trisomy syndrome
49096008	Duhamel's syndrome
4920001	Acetyl-CoA: carboxylase deficiency
49224008	Supernumerary ear lobule
49227001	Phosphatidylcholine-sterol acyltransferase deficiency
49284006	Juvenile type megaloblastic anemia
49347007	Osteosclerosis
49381001	Congenital anomaly of retina
4945003	Microgyria
49465005	Angioma serpiginosum
49494003	Ectopic adrenal gland
49496001	Double ureter
49534003	Congenital atresia of ureter
49555001	Severe combined immunodeficiency due to absent T cell receptor
49562005	Adult chronic GM 2 gangliosidosis
49714001	Congenital anomaly of gallbladder
49748000	Succinate-semialdehyde dehydrogenase deficiency
49762007	Hereditary factor XI deficiency disease
49813000	Bilateral congenital macrostomia
49946005	Podencephalus
49973006	Familial lipoprotein deficiency
49984004	FG syndrome
50108000	Osteochondrodysplasia with osteopetrosis
50123005	Beals auriculo-osteodysplasia syndrome
50267003	Congenital enlargement of nasopharynx
50307003	Funnel-shaped pelvis
50375007	Thyroid hormone responsiveness defect
50429003	Congenital stenosis of aqueduct of Sylvius
5051002	Anomaly of chromosome pair 9
50513008	Congenital atresia of bronchus
50658006	Testosterone 17-beta-dehydrogenase deficiency
50749006	Double Y syndrome
50751005	Sinus pericranii
50847000	Accessory skeletal muscle
50869007	Ehlers-Danlos syndrome, type 8
5087009	Brachypellic pelvis
50911000	Ectopic testis
50913002	Grob's syndrome
50926003	Job's syndrome
50943000	Congenital anomaly of bronchus
50956007	Accessory nipple
50967008	Gangliosidosis
50986000	Congenital fistula of urachus
50992006	22q partial trisomy syndrome
51010007	Congenital organoaxial volvulus of stomach
5102002	Agenesis of corpus callosum
51022005	Erythropoietic protoporphyria
51038004	Congenital obstruction of bile duct
51053007	Hemoglobin C disease
51060001	Diprosopus tetrophthalmus
51062009	Congenital constriction of pylorus
51089004	Birthmark
51118003	Congenital atresia of duodenum
51174006	Congenital melanosis of sclera
51219000	Bifid thumb
51409009	Asymmetric crying face association
51442005	Congenital atresia of aortic valve
51445007	Protan defect
51485001	Congenital coloboma of iris
51500006	Complete trisomy 18 syndrome
51523009	Congenital laryngocele
5153001	Ectopic anus
51626007	Werner syndrome
51634001	Congenital malaria
51635000	Congenital absence of all fingers
51655004	Congenital anomaly of skull
51693009	Congenital absence of prostate
51720005	Gray platelet syndrome
51780007	Cerebro-costo-mandibular syndrome
51789008	Congenital malposition of cardiac apex
51794008	Congenital anomaly of ureter
51819009	17p partial trisomy syndrome
5187006	Prune belly syndrome
51886007	Tritan defect
51952004	Spondyloepiphyseal dysplasia tarda
51984006	Dysmorphic sialidosis, infantile form
520004	Congenital bent nose
52022007	Congenital absence of ulna
52079000	Congenital human immunodeficiency virus infection
52083000	Infantile lobar overinflation of lung
52137009	von Willebrand disease, type IIE
52159006	Universal mesentery
52165006	Niemann-Pick disease, type A
52186006	Dysmorphic sialidosis
5230009	Congenital absence of coronary artery
52330001	Meningoencephalocele
523411000000105	Townes-Brocks syndrome
52415006	Low assimilation pelvis
52474000	Ectromelia of lower limb
52579008	Accessory lung
52604008	Steroid 21-monooxygenase deficiency, simple virilizing type
52616002	Freeman-Sheldon syndrome
526321000000101	Cystic hygroma of neck
52677002	Deficiency of N-acetylgalactosamine-4-sulfatase
52724003	Iodide oxidation defect
52757001	Congenital supravalvular pulmonary stenosis
52781008	Congenital hip dysplasia
52837007	Longitudinal deficiency of femur
5286009	Congenital absence of vas deferens
52868006	Oral-facial-digital syndrome
52879001	Congenital atresia of glottis
52904006	Congenital anomaly of vagina
529311000000103	Congenital stricture of anus without mention of fistula
52951008	Congenital dyserythropoietic anemia
5300004	Hemoglobin Bart's hydrops syndrome
530041000000105	Lumbar spina bifida without mention of hydrocephalus
53076002	Congenital gastric perforation
53189005	Congenital atresia of trachea
53190001	Vascular compression of esophagus by aberrant artery
53210006	Inborn error of pyruvate metabolism
53318002	Spina bifida with hydrocephalus
53329003	Platypellic pelvis
53346000	Complete trisomy 20 syndrome
5335002	Phosphoenolpyruvate carboxykinase deficiency
53392002	Anomaly of chromosome pair 16
53599007	Testicular regression syndrome
5361003	Embryonal nuclear cataract
53633000	Peutz-Jeghers polyps of small bowel
5364006	Uterus subseptus
53697002	Accessory lacrimal canal
53743006	Anemia following fetal blood loss
53748002	Congenital junctional epidermolysis bullosa-pyloric atresia syndrome
53776005	Encephalocystocele
53790008	Beaked pelvis
53842005	Congenital hallux valgus
5388008	Congenital lactase deficiency
5397007	Congenital anomaly of renal pelvis
53974002	Kniest dysplasia
54006005	Hereditary persistence of fetal hemoglobin delta beta plus thalassemia
54008006	Sternum bifidum
54036001	Oto-palato-digital syndrome, type I
54064006	Classical maple syrup urine disease
54069001	Congenital syphilitic mucous patches
54073003	Monocuspid cardiac valve
54119007	Congenital pancreatic trypsin deficiency
54160000	Congenital aneurysm of sinus of Valsalva
54176009	Congenital cyst of canal of Nuck
54209007	Hidrotic ectodermal dysplasia syndrome
54265003	Congenital anomaly of cerebral artery
5432003	Transposition of appendix
54336006	Ichthyosis linearis circumflexa
54359000	Congenital corneal opacity not interfering with vision
54386000	Congenital fusion of ossicles of ear
54411001	Peutz-Jeghers syndrome
54470008	3 beta-Hydroxysteroid dehydrogenase deficiency
54554009	Pancreas divisum
54616001	Congenital hypertrophy of pylorus
54668008	Uterus biforis
54682008	Congenital hypoplasia of pulmonary artery
54694004	Mobile cecum
54764003	Synchilia
54794009	Ectopic gray matter in centrum ovale
548004	13p partial trisomy syndrome
54837006	Straight back syndrome
54873004	Congenital anomaly of orbit proper
54898003	Multiple sulfatase deficiency
54954004	Aspartylglucosaminuria
54967001	Double kidney
55016009	Congenital muscular hypertrophy-cerebral syndrome
55133004	Multi-core congenital myopathy
55193002	Congenital anomaly of small intestine
55236002	Infantile hypophosphatasia
55296004	X-linked excess of thyroxine-binding globulin
55341000119107	Carnitine deficiency due to inborn error of metabolism
55379003	Congenital pseudoarthrosis of tibia
554003	2p partial trisomy syndrome
55490007	Congenital laryngeal stridor
55510008	Cor triatriatum
55520003	Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta
55536001	Congenital malposition of kidney
55546004	Anomalous origin of left circumflex artery from right coronary artery
55602000	Nezelof's syndrome
55631001	Congenital anomaly of testis
5565008	Congenital diverticulum of trachea
55709000	Ethmocephalus
55711009	Ehlers-Danlos syndrome, procollagen proteinase deficient
55731008	Arylsulfatase deficiency without metachromatic leukodystrophy
55783001	Muscle L-lactate dehydrogenase deficiency
55819001	Albinotic fundus
55821006	Hay-Wells syndrome of ectodermal dysplasia
55838005	Athyrotic hypothyroidism sequence
55852007	Complete phocomelia of lower limb
55856005	Congenital hyperplasia of kidney
55912009	Glycogen storage disease, type V
55999004	Encephalocele
5601008	Klippel-Feil sequence
56013008	Congenital duplication of biliary duct
56041007	Hypothyroidism due to defect in thyroid hormone synthesis
56108007	Congenital pelvic kidney
56112001	Thyroxine transport defect
56118002	Congenital syphilitic splenomegaly
56155002	Hemispheric cerebral agenesis
5619004	Bardet-Biedl syndrome
56205004	Hereditary persistence of fetal hemoglobin, nondeletion type
56212008	Leydig cell agenesis
56309007	Congenital subaortic stenosis of tunnel type
5645008	Nasal glial heterotopia
56531003	Ulegyria
5655007	Inherited disorder of bilirubin metabolism
56558005	Congenital hypotrichia
56604005	Cohen syndrome
56643009	Blunderbuss pelvis
56653005	18p partial monosomy syndrome
56661000	Intestinal enteropeptidase deficiency
5667009	Hunter's syndrome, mild form
56677004	Pallister-Hall syndrome
56692003	Rhizomelic chondrodysplasia punctata syndrome
56759000	Congenital anomaly of subcutaneous tissue
56797000	Congenital hypertrichosis
56823000	Cervical thyroid remnant
56852002	Achromatopsia
57014008	Fistula colli congenita
57058008	Uterus bicornis unicollis
57088004	Microcystic renal disease
57119000	Hyperammonemia, type III
57148006	Congenital anomaly of brain
57218003	Cholesterol ester storage disease
57219006	Craniosynostosis syndrome
57265009	Congenital obstruction of large intestine
5731000119108	Congenital osteodystrophy
57361003	Anomaly of chromosome pair 5
57436000	Congenital absence of external ear
57451009	Congenital tracheobronchomegaly
57497006	Congenital anomaly of spleen
57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
57536002	X-linked asexual dwarfism
57544002	Multiple malformation syndrome due to non-infectious environmental agents
57835009	Hepatic methionine adenosyltransferase deficiency
57838006	Retinitis pigmentosa-deafness syndrome
57863006	Acid phosphatase deficiency
57917004	Seckel syndrome
57918009	Janiceps
57921006	Congenital adhesions of omentum
57938005	Congenital myotonia, autosomal dominant form
58010002	Congenital absence of tibia AND fibula
58034007	Congenital hypergammaglobulinemia
58037000	Cowden syndrome
58112007	Mannosidosis, type II
58135005	Congenital duplication of cervix
58256000	Dihydropteridine reductase deficiency
58258004	Infantile neuronal ceroid lipofuscinosis
58263000	Maroteaux-Lamy syndrome, severe form
58392004	Congenital syphilitic osteochondritis
5842009	Spinal cord dysplasia
58459009	Sphingomyelin/cholesterol lipidosis
58557008	Spina bifida aperta
58561002	Diastrophic dysplasia
58610003	Leber's optic atrophy
58618005	Familial disease with storage of sterols (other than cholesterol)
58670006	Accessory lacrimal gland disorder
58833000	Pseudohypoparathyroidism type I A
58882000	Congenital cystic eyeball
590005	Congenital aneurysm of anterior communicating artery
59033006	Anomaly of chromosome pair 18
59035004	Congenital anomaly of female genital system
59068006	Congenital dislocation of knee
59070002	Partial aphalangia of lower limb
59128005	Congenital honeycomb lung
59178007	Menkes kinky-hair syndrome
59252009	Cutis laxa-corneal clouding-oligophrenia syndrome
59352006	Longitudinal deficiency of radius AND ulna
59399004	Cutis laxa, x-linked
5941000119101	Congenital single renal cyst
59423009	Congenital atresia of nasopharynx
59451000	Cutis laxa, autosomal recessive
59494005	Congenital septal defect of heart
59514009	Congenital absence of large intestine
59527008	Congenital cytomegalovirus infection
59548005	Congenital dyserythropoietic anemia, type I
59554006	Holoacardius acormus
59600000	Persistent omphalomesenteric artery
5963005	Subacute neuronopathic Gaucher's disease
59631007	Anomalous pulmonary venous drainage
59636002	Pelizaeus-Merzbacher disease, connatal variant
5967006	A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis
5968001	Congenital fusion of sacroiliac joint
59693007	Manus plana
59708000	Multiple epiphyseal dysplasia
59721007	Congenital syphilitic pemphigus
59758007	Trifid pelvis of kidney
59761008	Glutamate formiminotransferase deficiency
59763006	Hyperphosphatasemia tarda
59777009	Thoracopagus
5982001	2q partial trisomy syndrome
59857007	Branchial cleft cyst
59877000	Congenital anomaly of aorta
5994005	Hereditary elliptocytosis due to deficiency of protein 4.1
59981001	Congenital absence of penis
59990008	Mucopolysaccharidosis III-B
6002006	10p partial monosomy syndrome
60045007	Moderate steroid 21-hydroxylase deficiency
60091004	Congenital stricture of artery
60106004	Common arterial trunk and separate origin of pulmonary arteries
60108003	Congenital dislocation of one hip with subluxation of other
60192008	Lethal multiple pterygium syndrome
60193003	Familial hypobetalipoproteinemia
60220000	Partial congenital absence of limb
60232001	Cleft leaflet of tricuspid valve
60291005	Congenital absence of clitoris
60318001	Duane's syndrome
60399005	Dermatofibrosis lenticularis disseminata
60447007	Congenital anomaly of tongue
60475009	Congenital anomaly of limb
60498001	Congenital viral hepatitis B infection
60504009	Megaloblastic anemia due to congenital deficiency of intrinsic factor
60505005	Congenital anomaly of optic disc
60590005	Maternal phenylketonuria fetal effect
60637003	Congenital anomaly of adrenal gland
60650002	Ring chromosome 9 syndrome
60652005	Congenital cyst of mediastinum
60680007	Duplication of duodenum
60699003	Congenital anomaly of stomach
60732002	Atrial septal defect with endocardial cushion defect, partial type
60743005	Purine-nucleoside phosphorylase deficiency
6075009	Glycogen storage disease, hepatic form
60787001	Congenital hypoplasia of aortic arch
60876000	Gardner syndrome
60891003	Anomaly of chromosome pair 11
60922004	Heterologous chimera
60952007	Urocanate hydratase deficiency
609528003	Posterior fossa arachnoid cyst
609529006	Persistent Blake's pouch cyst
60983006	Congenital esophagotracheal fistula
61003004	Epidermolysis bullosa
61071003	Proline dehydrogenase deficiency
61108006	Ectopic intestinal mucosa
61142002	Microphthalmos
61165007	Hereditary nephrogenic diabetes insipidus
61172008	Infantile fucosidosis
61293001	Congenital deformity of knee joint
613003	Fragile X syndrome
61367005	Jarcho-Levin syndrome
61395005	Hereditary persistence of fetal hemoglobin G gamma beta plus thalassemia
61476004	Embryonic cyst of vagina
61598006	Glycogenosis with glucoaminophosphaturia
61649007	Congenital oculocutaneous hypopigmentation
61663001	Juvenile neuronal ceroid lipofuscinosis
61758007	Exstrophy of bladder sequence
61772003	Muscle phosphoglycerate mutase deficiency
61777009	Thalassemia-hemoglobin C disease
61819007	Rachischisis
61870003	Homologous chimera
61900003	Longitudinal deficiency of radius
61959006	Common truncus arteriosus
62009002	Adult neuronal ceroid lipofuscinosis
62042001	Splenogonadal fusion
62058003	Congenital hourglass stomach
62067003	Hypoplastic left heart syndrome
62074008	Delta zero thalassemia
62144003	Punctate oculocutaneous albinoidism
62158001	Status marmoratus
62192003	Diprosopus
62216007	Familial arthrogryposis-cholestatic hepatorenal syndrome
62218008	Polydactyly of toes
62250003	Arachnodactyly
62311004	Mannosidosis, type I
62332007	Infantile nephropathic cystinosis
62335009	Congenital stenosis of inferior vena cava
62403005	Glucose-6-phosphate dehydrogenase deficiency anemia
62440002	Infantile GM 2 gangliosidosis
62500006	Accessory bladder
62501005	Chondroectodermal dysplasia
62524003	Ectopic ovary
62578003	Congenital defect of folate absorption
62588002	Amelia
62628008	Multiple synostosis syndrome
62631009	Congenital cyst of posterior segment of eye
62654000	Failure of rotation of cecum
62667002	Congenital deviation of nasal septum
6267005	Congenital syphilitic meningitis
62803002	Frontometaphyseal dysplasia
62815003	Incomplete bilateral cleft lip
6282000	Congenital anomaly of vas deferens
6296006	Congenital dilatation of trachea
62964007	Antley-Bixler syndrome
62977003	Persistent tunica vasculosa lentis
62995000	15q partial monosomy syndrome
63042009	Congenital atresia of tricuspid valve
63119004	Weaver syndrome
63122002	Hajdu-Cheney syndrome
63127008	Thyroglobulin synthesis defect
63135006	Amyotonia congenita
63168004	Peripheral congenital arteriovenous aneurysm
63216003	Congenital keratoconus
63247009	Williams syndrome
63253009	Congenital rectovestibular fistula
63329001	Glycine dehydrogenase (decarboxylating) deficiency
63340009	Acephalocheiria
63387002	Larsen syndrome
63391007	Ulnar dimelia
63413008	Accessory ossification center
63450009	Rufous albinism
63565007	Congenital anemia
63567004	Uranostaphyloschisis
63691004	Dens evaginatus
63702009	Alstrom syndrome
63711009	Brachydactyly syndrome type E
63783001	Brachygnathism
6380005	Inverted pelvis
63844009	Oculocutaneous albinism
63890001	Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta
63934006	Overriding aorta
63935007	Congenital absence of eyelash
64081000	Porphobilinogen synthase deficiency
64162006	Multiple malformation syndrome with unusual brain and/or neuromuscular findings
64190005	Rubella myocarditis
64233004	Embryonic cyst of fimbria of fallopian tube
64235006	Ethanolaminosis
64268004	Median palatal cyst
64283009	Congenital rectovesical fistula
64320007	Congenital chordee
64370005	Aganglionosis of parasympathetic nerve ganglia
64404003	Osteogenesis imperfecta with blue sclerae AND normal teeth
64490002	Anakatadidymus
64491003	Myxedematous form of cretinism
64596006	Congenital clubnail
64635004	Congenital nystagmus
64716005	Fucosidosis
64727007	Accessory ureter
6477005	Malrotation of colon
6479008	Partial albinism
6483008	Tyrosinase-negative oculocutaneous albinism
64852002	Sarcosine dehydrogenase deficiency
64862009	Congenital rhabdomyoma of heart
64969001	Partial congenital absence of teeth
64981002	Congenital atresia of larynx
65033000	Congenital anomaly of hair
65048006	Accessory parathyroid gland
65094009	Multiple malformation syndrome with facial defects as major feature
65144005	Congenital spinal meningocele
65146007	Ectopic spleen
65178004	Deventer's pelvis
65237009	Accessory thyroid gland
65274008	Congenital anomaly of parathyroid glands
65327002	Mucopolysaccharidosis type I-H
6537000	Ectopic pituitary tissue
65389002	Adrenoleukodystrophy
65419005	Sitosterolemia with xanthomatosis
65455002	Nasal encephalocele
65520001	Primary hyperoxaluria, type I
65524005	Mannosidosis
65573001	High assimilation pelvis
65587001	Congenital anomaly of cerebrovascular system
65704008	Congenital anomaly of vulva
6573007	Reniform pelvis
65764006	Pseudo-Hurler polydystrophy
65880007	X-linked agammaglobulinemia
65937002	Imperforate hymen
65950001	Bayonet hair
65959000	Beta thalassemia
65976001	Cleidocranial dysostosis
65997000	Congenital fold of posterior segment of eye
66038001	Miller syndrome
66042003	Congenital hyperplasia of muscle
66055002	Alpha zero thalassemia
66063001	Regional odontodysplasia
66078008	Longitudinal deficiency of lower limb
66091009	Congenital disease
66102006	Congenital fusion of ribs
66149005	Hyperplasia of pancreatic islet beta cell
66185005	Autosomal dominant excess of transthyretin
66262001	Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
66345008	Congenital absence of toe
6636004	Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium
66403007	Vascular ring of aorta
66426000	Craniopagus parietalis
66489009	Congenital absence of lung
66499004	Congenital cortical cataract
66510004	Congenital anomaly of upper limb
66521008	Deficiency of cerebroside-sulfatase
66597000	Congenital cervicoaural fistula
66651005	Triploidy syndrome
6667002	Anadidymus
66729008	Hemoglobin D disease
66751000	Niemann-Pick disease, type C
66758006	Acrodysostosis
66783006	Popliteal pterygium syndrome
66793004	Congenital absence of alimentary tract
66858001	Anomalous pulmonary venous drainage to superior vena cava
66865009	Congenital duplication of esophagus
6688006	Congenital absence of patella
66937008	Glycogen storage disease, type III
66948001	Cleft palate with cleft lip
66985009	18q partial trisomy syndrome
66987001	Congenital lobar emphysema
67012005	Pyloric antral atresia
67049004	Vitamin D-dependent rickets, type 1
67144006	Epidermolysis bullosa simplex
67202007	Ehlers-Danlos syndrome, type 5
6724001	Ectopic pancreas in duodenum
67278007	Congenital stenosis of pulmonary valve
6729006	Cerebral-retinal arteriovenous aneurysm
67341007	Longitudinal deficiency of limb
67434000	Cytochrome-c oxidase deficiency
67504007	Shell teeth
67510007	Ichthyosis hystrix
67531005	Spina bifida
67653003	Pretibial epidermolysis bullosa
67787004	Tongue tie
67817003	Pili torti-deafness syndrome
67845009	Aminomethyltransferase deficiency
67854007	Maroteaux-Lamy syndrome, mild form
67855008	Niemann-Pick disease, type C, subacute form
67876003	Congenital obstruction of aqueduct of Sylvius
67904000	Dwarf pelvis
67944007	Lhermitte-Duclos disease
67985002	Congenital anomaly of membranous labyrinth
67988000	Congenital anomaly of cartilage
679911000119104	Congenital cortical cataract of left eye
679931000119109	Congenital cortical cataract of right eye
68067009	Crigler-Najjar syndrome, type II
68092007	Anomalous origin of pulmonary artery
68094008	Congenital hypoplasia of bile duct
681041000119106	Congenital cortical cataract of bilateral eyes
68186003	Congenital myopathy with abnormal subcellular organelles
68237008	Partial anomalous pulmonary venous connection
683221000119107	Congenital melanocytic nevus of skin of face
683251000119104	Congenital pigmented melanocytic nevus of skin of neck
683261000119102	Congenital pigmented melanocytic nevus of skin of scalp
683271000119108	Congenital melanocytic nevus of trunk
68352004	Accessory adrenal gland
68359008	Congenital hemivertebra
6839008	Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome
68454002	Complete trisomy 8 syndrome
68504005	Ataxia-telangiectasia syndrome
68539005	Congenital bronchopulmonary foregut malformation
68551007	Limb reduction-ichthyosis syndrome
68591005	Congenital hypoplasia of pancreas
68610001	Latent nystagmus
68700003	Megaloblastic anemia due to error of cobalamin metabolism
68716001	Situs inversus abdominalis
6874009	Congenital keratoderma
68764005	Juvenile taboparesis
68870007	Congenital dyserythropoietic anemia, type II
68913001	Alpha thalassemia
68914007	Congenital mesenteroaxial volvulus of stomach
68985000	Benign neonatal hyperaminoaciduria
69015003	Double urethra
69056000	Macrotia
69080001	Propionic acidemia
69093006	Rothmund-Thomson syndrome
69216008	Hb Lepore thalassemia
69248007	Congenital anomaly of fixation of intestine
69278003	Congenital aniridia
6936002	Cleft lip sequence
69381005	Macrodactylia of fingers
69463008	Maroteaux-Lamy syndrome
69478001	Pancreatic colipase deficiency
69488000	Beaded hair
69518005	Congenital anomaly of digestive system
69664005	Ecchordosis physaliphora
69729007	Unilobar lung
69771008	Congenital anomaly of esophagus
69817007	Congenital occlusion of anus
698601005	Single congenital anomaly
698615007	Congenital deaf mutism
698765007	Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome
698766008	Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome
698772008	Extraosseous calcifying odontogenic cyst
698849002	Tetrasomy 18p
698851003	SOX2 anophthalmia syndrome
698870008	2-hydroxyglutaric aciduria
698971006	Congenital subaortic diverticulum
698999002	Congenital atresia of aqueduct of Sylvius
699000000	Thyroglossal duct sinus
699049007	Acrosyndactyly of toe
699051006	Male subcoronal hypospadias
699055002	Prominent renal pelvis
699185005	Myostatin related hypertrophy of muscle
699238006	Congenital prelingual deafness
699251001	Fibrous dysplasia of bone with intramuscular myxoma
699254009	Microdeletion of chromosome 15q13.3
699256006	Timothy syndrome type 1
69927002	Persistent primary vitreous
699275001	WNT4 Müllerian aplasia and ovarian dysfunction
699297004	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type
699298009	Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type
699300009	Oculofaciocardiodental syndrome
699301008	Multiple venous malformation of skin and mucous membrane
699305004	Microdeletion of chromosome 1q21.1
699306003	Chromosome 1p36 deletion syndrome
699307007	Chromosome 16p11.2 deletion syndrome
699308002	Microdeletion of chromosome 15q24
699310000	22q13.3 deletion syndrome
699311001	22q11.2 duplication
699313003	Weissenbacher-Zweymuller syndrome
699315005	Neutral lipid storage disease with myopathy
699316006	Myhre syndrome
699328003	Myoclonic epilepsy myopathy sensory ataxia
699381006	Oculoskeletal dysplasia
699382004	Enamel agenesis
699418008	Shovel-shaped incisor
699420006	Hemifacial myohyperplasia
6996004	Congenital absence of pulmonary valve
699700006	Median cleft lip and alveolus
699762000	Congenital double lip
699812002	Subependymal nodular heterotopia
699853005	Ectopic tooth in labial sulcus
699867001	Duane-radial ray syndrome
699871003	Congenital penile adhesion
699943005	Congenital anomaly of vertebral region of back
700056005	Mosaic variegated aneuploidy syndrome
700057001	Emberger syndrome
700063005	Megalencephaly capillary malformation
700112007	Bartter syndrome type 4
70013003	Asymmetrical conjoined twins
700150001	Congenital leptin deficiency
700211007	Ulnar mammary syndrome
700257009	Congenital megaduodenum
700278007	Congenital vascular anomaly of eyelid
700279004	Congenital vascular anomaly of upper eyelid
700283004	Congenital achalasia of esophagus
700284005	Congenital disseminated toxoplasmosis
700285006	Congenital velopharyngeal dysfunction
700369004	Congenital vascular anomaly of lower eyelid
70041004	Erythrokeratodermia variabilis
700453005	Congenital sensorineural hearing loss
700463002	Alpha-methylacyl-CoA racemase deficiency disorder
700489002	Sensorineural deafness and male infertility
70123009	Congenital cubitus valgus
70156005	Anomaly of chromosome pair 21
70173007	5p partial monosomy syndrome
70195006	Congenital anomaly of superior vena cava
70199000	I-cell disease
702312009	Tarsal-carpal coalition syndrome
702313004	Tetra-amelia syndrome
702339001	Spondyloperipheral dysplasia
702342007	Dolichospondylic dysplasia
702343002	Early onset myopathy with fatal cardiomyopathy
702345009	Ring chromosome 14 syndrome
702346005	Chromosome 11p11.2 deletion syndrome
702347001	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
702350003	Spondyloepimetaphyseal dysplasia, Strudwick type
702351004	Spondylocarpotarsal synostosis syndrome
702356009	X-linked intellectual disability-psychosis-macroorchidism syndrome
702357000	Chromosome 2q37 deletion syndrome
702358005	Persistent Müllerian duct syndrome
702359002	Congenital stromal corneal dystrophy
702360007	Congenital deafness with labyrinthine aplasia, microtia and microdontia
702361006	Crouzon syndrome with acanthosis nigricans
702362004	Craniofacial deafness hand syndrome
702365002	Combined malonic and methylmalonic aciduria
702367005	Genitopatellar syndrome
702382000	Inclusion body myopathy 2
702397002	Renal tubular dysgenesis
702400006	Spondyloepiphyseal dysplasia with congenital joint dislocations
702407009	Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
702413000	RAPADILINO syndrome
702417004	Supernumerary der(22)t(11;22) syndrome
702425002	Hand-foot-genital syndrome
702432006	Diaphragmatic hernia, abnormal face and distal limb anomalies
702433001	Congenital cataracts, facial dysmorphism and neuropathy
702434007	Distal penile hypospadias
702436009	Proximal penile hypospadias
702440000	Cerebral creatine deficiency syndrome 3
702443003	Auriculo-condylar syndrome
702447002	Arthrogryposis-like syndrome
702450004	FOXG1 syndrome
702462000	Scrotal hypospadias
702610009	Congenital aplasia of vas deferens
702611008	Congenital brain aplasia
702612001	Congenital aplasia of lung
702613006	Aplasia of diaphragm
702614000	Aplasia of parathyroid gland
702615004	Aplasia of adrenal gland
702616003	Aplasia of spermatic cord
702623002	Aplasia of thymus
702624008	Aplasia of spleen
702627001	Aplasia of testicle
702628006	Congenital anomaly of cerebrum
702644002	Congenital stenosis of nasal pyriform aperture
702816000	Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome
702829000	Warsaw breakage syndrome
703000	Congenital adhesions of tongue
703132007	Lingual ectopic tooth
70318002	Congenital anomaly of penis
703193000	Congenital malformation of dural sinus
703197004	Congenital capillary hemangioma
70320004	Congenital anomaly of heart valve
703221003	Congenital intracranial vascular malformation
70324008	15q partial trisomy syndrome
703265006	Arteriovenous malformation of face
703266007	Cerebrofacial arteriovenous metameric syndrome
703267003	Cerebrofacial arteriovenous metameric syndrome type 1
703268008	Cerebrofacial arteriovenous metameric syndrome type 3
703284009	Phakomatosis cesioflammea
703285005	Phakomatosis spilorosea
703286006	Phakomatosis caesiomarmorata
703294004	Rapidly involuting congenital hemangioma
703295003	Noninvoluting congenital hemangioma
703298001	Diffuse lymphatic malformation
703299009	Cutaneous capillary malformation
703329004	Arteriovenous malformation of trunk
703331008	Arteriovenous malformation of limb
703334000	Arteriovenous malformation of mandible
703335004	Arteriovenous malformation of maxilla
703336003	Arteriovenous malformation of frontonasal process
703369003	Microcephaly-capillary malformation syndrome
703385008	Anomalous origin of pulmonary artery from ascending aorta
703403003	Ophthalmo-acromelic syndrome
70348004	Pendred's syndrome
703504006	Congenital reticular ichthyosiform erythroderma
703522009	Biotin-thiamine-responsive basal ganglia disease
703523004	Spondyloenchondrodysplasia with immune dysregulation
703525006	Anhidrotic ectodermal dysplasia with immune deficiency
703526007	Progressive epilepsy-intellectual disability syndrome Finnish type
703527003	TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
703528008	Cutis gyrata syndrome of Beare and Stevenson
703532002	Cap myopathy
703533007	Capillary malformation-arteriovenous malformation syndrome
703534001	Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
703535000	Mowat-Wilson syndrome
703536004	Megalencephalic leukoencephalopathy with subcortical cysts
703539006	Manitoba oculotrichoanal syndrome
703540008	Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
703542000	Retinal detachment and occipital encephalocele
703543005	Infantile ascending hereditary spastic paralysis
703544004	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
7037003	Xeroderma, talipes and enamel defect syndrome
703973009	First and second branchial arch syndrome
70410008	Acrocephalosyndactyly type V
70450006	Ectopic gastric tissue
70452003	Anomaly of chromosome pair 22
70499005	Congenital dermal sinus
70528007	Mucolipidosis
70534000	Occult spinal dysraphism sequence
70550008	Streak ovary
70583001	Incomplete development of membranous labyrinth
70602002	Pseudocoarctation of aorta
70610001	Ehlers-Danlos syndrome, recessive type 4
70642007	Pygopagus
70690000	Congenital discoid meniscus
70705008	Accessory salivary gland
707200002	Descending aorta anterior and same side as azygos vein with absent inferior vena cava
707234001	Fourth branchial cleft cyst
707272006	Autosomal recessive dyskeratosis congenita
707273001	Autosomal dominant dyskeratosis congenita
707276009	Hoyeraal-Hreidarsson syndrome
707310009	Globodontia
70737009	Mucopolysaccharidosis type II
707371002	Congenital stenosis of left pulmonary artery
707372009	Congenital stenosis of right pulmonary artery
707442002	Congenital pulmonary alveolar proteinosis
707551007	Pulmonary interstitial glycogenosis
70756004	Bronchial atresia with segmental pulmonary emphysema
707607008	Amelogenesis imperfecta and gingival hyperplasia syndrome
707608003	Amelogenesis imperfecta co-occurrent with cone rod dystrophy
707609006	Solitary median maxillary central incisor syndrome
707679005	Hypoplasia of first permanent molar tooth
707681007	Localized hypoplasia of tooth
707711006	Congenital primary pulmonary lymphangiectasis
707713009	Congenital secondary pulmonary lymphangiectasis
707770004	Congenital duplication of renal collecting system
70794004	Congenital pseudoarthrosis of clavicle
708022000	Congenital pulmonary lymphatic dysplasia syndrome
708028001	Congenital pulmonary alveolar capillary dysplasia
708029009	Congenital pulmonary acinar dysplasia
708059004	Atresia of penile urethra
708536001	X-linked dyskeratosis congenita
708541009	Complete ablepharon
708669006	Bifid mandibular condyle
708672004	Odontohypophosphatasia
708677005	Congenital malformation of mandibular glenoid fossa
709003000	Salivary gland heterotopia
70902004	Longitudinal deficiency of upper limb
709105005	Jackson-Weiss syndrome
709412006	Congenital disorder of glycosylation type 1c
70943004	Allemann's syndrome
709465004	Periodontitis co-occurrent with Chédiak-Higashi syndrome
709466003	Periodontitis co-occurrent with Cohen syndrome
709469005	Periodontitis co-occurrent with Down syndrome
709490002	Desmosterolosis
709535007	Periodontitis co-occurrent with infantile genetic agranulocytosis
709556009	Periodontitis co-occurrent with hypophosphatasia
709561006	Periodontitis co-occurrent with glycogen storage disease
709604005	Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4
70974002	Congenital absence of rib
70978004	Situs inversus thoracis
710008008	Monosomy X
710010005	Mosaic Turner syndrome
710019006	Mosaicism 45, X or other cell line with abnormal sex chromosome
71009001	Multiseptate gallbladder
71016000	Dicheirus
710232008	Congenital saddle nose
710735009	Periodontitis co-occurrent with leukocyte adhesion deficiency
71084008	Congenital absence of upper arm AND forearm
711039004	Acrobrachycephaly
711100005	Caliber persistent labial artery
711151004	Hypomagnesemia with secondary hypocalcemia
711153001	Bowen-Conradi syndrome
711155008	ALG12-congenital disorder of glycosylation
711156009	Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome
711407000	Thrombocytopathy, asplenia and miosis
711409002	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
711543008	Mandibulofacial dysostosis with microcephaly
711546000	Concordant ventriculoarterial connection with parallel great arteries
71178008	Congenital spinal hydromeningocele
71253000	Tay-Sachs disease, variant AB
71311003	Congenital kyphosis
71322004	Ehlers-Danlos syndrome, familial joint laxity type
713277006	Odontogenic keratocyst
7134007	Osteogenesis imperfecta, dominant perinatal lethal
713401006	Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
713509006	Congenital penile torsion
713869000	Congenital calcium pyrophosphate dihydrate crystal deposition disease
71464000	Dipygus
715201005	Congenital short bowel syndrome
715215007	Chromosome 11p13 deletion syndrome
715216008	Distal arthrogryposis type 2B
715217004	Distal arthrogryposis type 5
715240000	X-linked retinal dysplasia
715242008	Ulna metaphyseal dysplasia syndrome
715314008	Distal arthrogryposis type 1
715316005	Neurogenic arthrogryposis multiplex congenita
715318006	Ehlers-Danlos syndrome classic type
715337002	Congenital infection caused by Herpes virus
715338007	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria
715339004	Autosomal dominant keratitis
715342005	Alpha thalassemia X-linked intellectual disability syndrome
715344006	Neurofibromatosis Noonan syndrome
715369006	Autosomal recessive cerebelloparenchymal disorder type 3
715371006	Cerebellar ataxia co-occurrent with ectodermal dysplasia
715391004	Blepharophimosis epicanthus inversus ptosis syndrome
715402001	Hereditary glucocorticoid resistance
715404000	Ameloonychohypohidrotic syndrome
715406003	Isolated lissencephaly type 1 without known genetic defect
715409005	Trigonocephaly C syndrome
715418007	Lethal congenital contracture syndrome type 1
715419004	Lethal congenital contracture syndrome type 2
715420005	Lethal congenital contracture syndrome type 3
715421009	Craniofrontonasal dysplasia
715422002	Craniotelencephalic dysplasia
715427008	Acromelic frontonasal dysplasia
715428003	Skeletal dysplasia with epilepsy and short stature syndrome
715429006	Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
715430001	Embryofetopathy caused by indomethacin
715434005	Holoprosencephaly craniosynostosis syndrome
715436007	Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration
715438008	Distal partial deletion of long arm of chromosome 11
715440003	Mirror hands and feet co-occurrent with nasal defect
715441004	McDonough syndrome
715442006	Syndactyly of fingers type 8
715462003	Microcephalus co-occurrent with cervical spine fusion anomaly
715463008	Congenital pontocerebellar hypoplasia type 2
715464002	Microcephalus microcornea syndrome of Seemanova type
715470008	Brachydactylous dwarfism Mseleni type
715471007	Mesomelic dysplasia with cleft palate and camptodactyly syndrome
715472000	Mesomelic dysplasia of hypoplastic ulna and fibula type
715474004	Aplasia of fibula co-occurrent with complex brachydactyly
715482004	Microcephalic primordial dwarfism of Toriello type
715484003	Ophthalmomandibulomelic dysplasia
715487005	Autosomal recessive distal osteolysis syndrome
715491000	Autosomal recessive spastic paraplegia type 11
715505002	Rhizomelic dysplasia of Patterson Lowry type
715506001	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
715522000	Phocomelia Schinzel type
715523005	Mirror polydactyly, vertebral segmentation and limb defect syndrome
715524004	Delayed membranous cranial ossification
715527006	Deafness and oligodontia syndrome
715529009	Progressive deafness with stapes fixation
715530004	Tetrasomy 9p syndrome
715531000	Tibial aplasia and ectrodactyly syndrome
715532007	Weismann Netter syndrome
715533002	Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
715535009	Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome
715565004	Lethal arthrogryposis co-occurrent with anterior horn cell disease
715568002	Gnathodiaphyseal dysplasia syndrome
715575001	Distal arthrogryposis type 4
715576000	Ectodermal dysplasia with natal teeth Turnpenny type
715628009	Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome
715631005	Chondrodysplasia punctata Toriello type
715632003	Oculocutaneous albinism type 4
715633008	Atypical Werner syndrome
715644000	Glomuvenous malformation
715646003	Desmin related myopathy with Mallory body-like inclusions
715652002	Mesomelic dysplasia Savarirayan type
715653007	Spondyloocular syndrome
715654001	Ischio-vertebral syndrome
715656004	Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland
715669000	Congenital epithelial dysplasia of intestine
715670004	Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation
715672007	Multiple epiphyseal dysplasia type 4
715673002	Multiple epiphyseal dysplasia type 1
715674008	Multiple epiphyseal dysplasia type 5
715704001	Postaxial polydactyly type A
715707008	Postaxial polydactyly type B
715710001	Polydactyly of triphalangeal thumb
715720006	Brachydactyly type A1
715721005	Brachydactyly type A4
715722003	Brachydactyly type A6
715723008	Syndactyly type 1
715724002	Syndactyly type 2
715725001	Syndactyly type 3
715727009	Pituitary stalk interruption syndrome
715733000	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
715734006	Congenital absence of half of thyroid
715735007	Maternal uniparental disomy of chromosome 20
715736008	Paternal uniparental disomy of chromosome 20
715769008	Congenital retraction of eyelid
715771008	Microphthalmos co-occurrent with congenital ocular coloboma
715776003	Spastic paraplegia type 7
715780008	Lissencephaly type 1 due to doublecortin gene mutation
71578002	Steroid 21-monooxygenase deficiency, salt wasting type
715795005	Charcot-Marie-Tooth disease type 4
715796006	Charcot-Marie-Tooth disease type 4A
715797002	Charcot-Marie-Tooth disease type 4C
715798007	Charcot-Marie-Tooth disease type 4D
715799004	Charcot-Marie-Tooth disease type 4G
715800000	Charcot-Marie-Tooth disease type 4B2
715801001	Charcot-Marie-Tooth disease type 4F
715802008	Charcot-Marie-Tooth disease type 4H
715803003	Charcot-Marie-Tooth disease type 4B1
715817007	Lissencephaly co-occurrent with congenital cerebellar hypoplasia
715819005	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B
715820004	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C
715821000	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D
715822007	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type F
715828006	Proboscis lateralis
715861004	Dysplasia of head of femur Meyer type
715862006	Smith McCort dysplasia
715867000	Pseudoaminopterin syndrome
715905006	Unilateral polymicrogyria
715923003	Lysosomal acid lipase deficiency
715951007	Acrocallosal syndrome
715952000	Waardenburg syndrome co-occurrent with Hirschsprung disease
715963002	Atrichia with papular lesions
715981004	Autosomal recessive primary microcephaly
715982006	Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency
715983001	Ring chromosome 8 syndrome
715985008	Maxillonasal dysplasia syndrome
715986009	Camptodactyly with joint contracture and facial skeletal defect syndrome
715987000	Congenital heart defect with round face and developmental delay syndrome
715988005	Cataract with aberrant oral frenula and growth delay syndrome
715989002	Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
715990006	Agenesis of cerebellum and hydrocephalus syndrome
715991005	Crane Heise syndrome
716006003	Bifid femur co-occurrent with monodactylous ectrodactyly
716007007	Cleft palate and cleft lip with deafness and sacral lipoma syndrome
716022002	Frontofacionasal dysplasia syndrome
716023007	Prominent glabella with microcephaly and hypogenitalism syndrome
716024001	Goniodysgenesis with intellectual disability and short stature syndrome
716089008	Craniofacial digital and genital anomalies syndrome
716090004	Short stature with craniofacial anomalies and genital hypoplasia syndrome
716091000	Holoprosencephaly and postaxial polydactyly syndrome
716092007	Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome
716094008	Fibulo-ulnar hypoplasia and renal anomalies syndrome
716096005	Hypospadias and intellectual disability syndrome Goldblatt type
716097001	Ichthyosis cheek eyebrow syndrome
716098006	Congenital bowing of long bone
716099003	Absence deformity of leg and congenital cataract syndrome
716106000	Limb body wall complex
716108004	Macrocephaly with spastic paraplegia and dysmorphism syndrome
716110002	Upper limb defect with eye and ear abnormalities syndrome
716111003	Mullerian duct and limb anomalies syndrome
716112005	Microcephaly with deafness and intellectual disability syndrome
716165003	Microcornea with corectopia and macular hypoplasia syndrome
716166002	Microcornea with glaucoma and absent frontal sinus syndrome
716169009	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
716170005	Deafness with cataract and skeletal anomaly syndrome
716174001	Oculocerebral hypopigmentation syndrome of Preus type
716180009	Odontoma dysphagia syndrome
716189005	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome
71619006	Congenital absence of ear
716192009	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
716193004	Short stature with valvular heart disease and characteristic facies syndrome
716194005	Pili torti with developmental delay and neurological abnormality syndrome
716195006	Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome
716198008	Growth delay with hydrocephalus and lung hypoplasia syndrome
716199000	Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome
716230005	Shprintzen Goldberg omphalocele syndrome
716231009	Spondylocamptodactyly syndrome
716232002	Autosomal dominant spondylocostal dysostosis
716233007	Steinfeld syndrome
716238003	Deafness with epiphyseal dysplasia and short stature syndrome
716243005	Deafness with malformation of ear and facial palsy syndrome
716245003	Deafness craniofacial syndrome
716248001	Cleft lip and cleft palate with ectodermal dysplasia syndrome
716249009	Tetraamelia with multiple malformation syndrome
716277000	Chronic diarrhea due to glucoamylase deficiency
716279002	Congenital duplication of nose
716280004	Congenital tubular duplication of esophagus
716334004	Intellectual disability and short stature with hand contracture and genital anomaly syndrome
716335003	Congenital suprabulbar paresis
716336002	Congenital amegakaryocytic thrombocytopenia
716337006	Seaver Cassidy syndrome
716378008	Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency
716381003	8p23.1 microdeletion syndrome
716387004	2q31.1 microdeletion syndrome
716456000	3q29 microdeletion syndrome
716515000	1q41q42 microdeletion syndrome
716636008	Longitudinal deficiency of part of upper limb
716638009	Longitudinal deficiency of part of limb
716660007	Congenital infection caused by Epstein-Barr virus
716682000	Dominant beta-thalassemia
716683005	17q21.31 microduplication syndrome
716696006	Autosomal dominant centronuclear myopathy
716698007	Congenital deficiency of alpha-fetoprotein
716699004	Epidermolysis bullosa simplex due to plakophilin deficiency
716700003	Epidermolysis bullosa simplex with circinate migratory erythema
716701004	Epidermolysis bullosa simplex co-occurrent with pyloric atresia
716708005	FRAXF syndrome
716709002	FRAXE intellectual disability syndrome
716721003	Genetic recurrent myoglobinuria
716740009	Potter sequence cleft lip and palate cardiopathy syndrome
716741008	Bilateral hypoplasia of tibia and postaxial polydactyly syndrome
716744000	Familial hypospadias of penis
716746003	Congenital alpha-2-antiplasmin deficiency
716773002	Familial idiopathic dilatation of right atrium
716775009	Nanophthalmia
716862002	Proteus like syndrome
716865000	Congenital infection caused by enterovirus
716868003	Multicentric osteolysis nodulosis arthropathy spectrum
716871006	Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency
7169009	Congenital supravalvular aortic stenosis
716996008	Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
716997004	Joubert syndrome
716998009	Joubert syndrome with ocular defect
716999001	Joubert syndrome with renal defect
717003001	Hereditary cavernous hemangioma of brain
71702000	Maple syrup urine disease, multiple dehydrogenase form
71703005	Complete trisomy 22 syndrome
717041008	Syndromic recessive X-linked ichthyosis
717046003	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
717048002	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
717049005	Trisomy 17p
717050005	Autosomal recessive sideroblastic anemia
717156002	Biliary atresia with splenic malformation syndrome
717157006	Trisomy 10p
717158001	Partial chromosome Y deletion
717182006	Hyperinsulinism due to deficiency of glucokinase
717183001	Keratoderma hereditarium mutilans with ichthyosis syndrome
717185008	Deficiency of leukotriene C4 synthase
717187000	Nephronophthisis hepatic fibrosis syndrome
717192003	Familial digital arthropathy and brachydactyly syndrome
717221005	Metaphyseal dysplasia Braun Tinschert type
717222003	Microphthalmia with ankyloblepharon and intellectual disability syndrome
717224002	X-linked reticulate pigmentary disorder with systemic manifestation syndrome
71723006	von Willebrand disease, type IIG
717232005	Caroli disease
717260007	Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency
717261006	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
717262004	Isolated congenital alacrima
717264003	Autosomal dominant brachyolmia
717276003	Folinic acid responsive seizure syndrome
71728002	Accessory liver
717330004	Spondyloepimetaphyseal dysplasia Irapa type
717333002	Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody
717334008	Idiopathic congenital hypothyroidism
717335009	Mosaic trisomy 8 syndrome
717337001	Syndromic hypoplasia of orbital border
717338006	Koolen De Vries syndrome
717407006	Congenital plasminogen activator inhibitor deficiency type 1
717459000	Congenital primary megaureter
717632002	X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome
717633007	Distal monosomy 1q
717701008	Uterus bicornis bicollis with blind hemi-vagina
717702001	Uterus bicornis bicollis with patent cervix and vagina
717703006	Bilateral congenital absence of ovary
717704000	Bilateral congenital absence of fallopian tube
717705004	Mayer-Rokitansky-Küster-Hauser syndrome type 2
717742006	Primary renal dysplasia
717744007	Secondary renal dysplasia
717745008	Bilateral secondary renal dysplasia
717746009	Congenital hemorrhagic renal cyst
717748005	Bilateral medullary sponge kidney
717749002	Bilateral multicystic renal dysplasia
717750002	Bilateral congenital primary hydronephrosis
717756008	Complete duplication of urethra
717757004	Partial duplication of urethra
717758009	Congenital atresia and stenosis of ureter
717759001	Congenital absence of bladder and urethra
717761005	Choroideremia with deafness and obesity syndrome
717763008	Chudley Lowry Hoar syndrome
717765001	Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome
717771007	Cloverleaf skull with multiple congenital anomalies syndrome
717772000	Cerebro-oculo-dento-auriculo-skeletal syndrome
717773005	Component of oligomeric golgi complex 7 congenital disorder of glycosylation
717774004	Component of oligomeric golgi complex 8 congenital disorder of glycosylation
717785002	Coloboma of macula with brachydactyly type B syndrome
71779008	X-linked hydrocephalus syndrome
717791000	Bartter syndrome type 4a
717812000	Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
717813005	Global developmental delay, osteopenia, ectodermal defect syndrome
717814004	Glossopalatine ankylosis
717821004	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
717822006	Goldberg Shprintzen megacolon syndrome
717823001	Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome
717827000	Hereditary sensory and autonomic neuropathy with spastic paraplegia
717835002	Atresia of the esophagus without tracheoesophageal fistula
717850006	Brachymelia of lower limb
717859007	Hydrocephalus, cardiac malformation, dense bone syndrome
717884005	Congenital diverticulum of duodenum
717886007	Congenital malrotation of duodenum
717887003	Biemond syndrome type 2
717888008	Hyperinsulinism due to focal adenomatous hyperplasia
717909004	Bilateral microtia with deafness and cleft palate syndrome
717911008	Blepharocheilodontic syndrome
717913006	Blepharonasofacial malformation syndrome
717914000	Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
717915004	Blepharoptosis, myopia, ectopia lentis syndrome
717921000000107	Bilateral trilobed lung
717931000000109	Bilateral bilobed lung
717939009	Anencephaly without rachischisis
717940006	Bifid nose, anorectal anomaly, renal anomaly syndrome
717943008	Brain malformation, congenital heart disease, postaxial polydactyly syndrome
717944002	Branchiogenic deafness syndrome
717945001	Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome
717963001	Isolated anterior cervical hypertrichosis
717973004	Chromosome 3q29 duplication syndrome
717977003	Lissencephaly syndrome Norman Roberts type
718095000	Schisis association syndrome
718099006	Enlarged parietal foramina
718106009	Hyperinsulinism and hyperammonemia syndrome
718107000	Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency
718122005	Piebaldism
718124006	Fatal infantile cytochrome C oxidase deficiency
718128009	Congenital dysplasia of cardiac valve
718135001	Isolated right ventricular hypoplasia
718181001	Congenital cardiac diverticulum
718182008	Combined pituitary hormone deficiency genetic form
718183003	Familial thyroid dyshormonogenesis
718188007	8p inverted duplication deletion syndrome
718189004	Recombinant chromosome 8 syndrome
718193005	Peripheral resistance to thyroid hormone
718194004	Hypothyroidism due to mutation in transcription factor of pituitary development
718196002	Beta thalassemia X-linked thrombocytopenia syndrome
718210003	Deficiency of monoamine oxidase A
718211004	Ehlers-Danlos syndrome kyphoscoliotic type
718216009	Partial defect of atrioventricular canal
718219002	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
718222000	Autosomal dominant popliteal pterygium syndrome
718226002	Wolf Hirschhorn syndrome
718227006	Proximal 16p11.2 microdeletion syndrome
718228001	Fetal iodine syndrome
7183006	Anophthalmos
718395009	Defects of tubular bones and spine
718485003	Congenital dilatation of ureter
718552009	Familial median cleft of upper and lower lip
718553004	White platelet syndrome
718554005	Medich giant platelet syndrome
718556007	Cranio-cerebello-cardiac dysplasia syndrome
718559000	Acromesomelic dysplasia Maroteaux type
718572004	Bethlem myopathy
718573009	Achalasia microcephaly syndrome
718574003	Cleft palate with coloboma of eye and deafness syndrome
718575002	Ablepharon macrostomia syndrome
718576001	Hydrocephalus with cleft palate and joint contracture syndrome
718577005	X-linked intellectual disability Atkin type
718579008	X-linked endothelial dystrophy of cornea
718605009	Congenital pontocerebellar hypoplasia type 7
718606005	Congenital pontocerebellar hypoplasia type 6
718607001	Congenital pontocerebellar hypoplasia type 5
718608006	Congenital pontocerebellar hypoplasia type 4
718609003	Congenital pontocerebellar hypoplasia type 3
718610008	Congenital pontocerebellar hypoplasia type 1
718611007	Congenital pontocerebellar hypoplasia type 8
718615003	8q21.11 microdeletion syndrome
718631006	Annular epidermolytic ichthyosis
718632004	Self-healing collodion baby
718633009	Acral self-healing collodion baby
718679004	Mammary digital nail syndrome
718680001	Oro-facial digital syndrome type 9
718681002	Oro-facial digital syndrome type 11
718687003	Distal monosomy 10q
718688008	Distal monosomy 6p
718689000	Distal trisomy 10q
718690009	Congenital hypothyroidism due to absence of thyroid gland
718691008	Isolated cryptophthalmos
718712005	Carbohydrate deficient glycoprotein syndrome type 1m
718713000	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
718714006	Deafness and hypogonadism syndrome
718719001	Lissencephaly type 3 familial fetal akinesia sequence syndrome
718720007	Lissencephaly type 3 metacarpal bone dysplasia syndrome
718721006	Congenital analbuminemia
718750004	Component of oligomeric golgi complex 1 congenital disorder of glycosylation
718751000	Component of oligomeric golgi complex 4 congenital disorder of glycosylation
718759003	Lissencephaly due to tubulin alpha 1A mutation
718761007	Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
718763005	Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome
718764004	Spondyloepiphyseal dysplasia Reardon type
718765003	Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
718766002	Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
718851007	Cataract glaucoma syndrome
718880003	Zellweger-like syndrome without peroxisomal anomaly
718881004	Chromosome Xq27.3q28 duplication syndrome
718882006	X-linked severe congenital neutropenia
718896000	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
718897009	X-linked intellectual disability Seemanova type
718900002	Syndromic X-linked intellectual disability type 11
718908009	X-linked intellectual disability Siderius type
718909001	X-linked intellectual disability Stevenson type
718910006	X-linked intellectual disability Stocco Dos Santos type
718911005	X-linked intellectual disability Stoll type
718914002	X-linked intellectual disability Van Esch type
71901000	Congenital contracted pelvis
719011002	X-linked intellectual disability Pai type
719012009	X-linked intellectual disability Miles Carpenter type
719017003	X-linked intellectual disability Armfield type
719018008	X-linked intellectual disability Abidi type
719019000	WT limb blood syndrome
719020006	Pallister W syndrome
719021005	DK phocomelia syndrome
71904008	Severe combined immunodeficiency due to absent class II human leukocyte antigens
719041000	Hip dysplasia with enchondromata and ecchondroma syndrome
719042007	Uveal coloboma with cleft lip and palate and intellectual disability syndrome
719043002	Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus
719044008	Partial agenesis of pancreas
719046005	12q14 microdeletion syndrome
719047001	14q11.2 microdeletion syndrome
719069008	Shprintzen Goldberg craniosynostosis syndrome
719096006	Brittle cornea syndrome
719097002	Branchioskeletogenital syndrome
719101006	Carpenter Waziri syndrome
719102004	Congenital cataract with ataxia and deafness syndrome
719103009	Autosomal recessive spastic paraplegia type 39
719104003	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
719136005	X-linked intellectual disability with cerebellar hypoplasia syndrome
719138006	X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
719139003	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
719140001	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
719155005	X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
719157002	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
719158007	Syndactyly type 4
719159004	Syndactyly type 5
719160009	Syndromic X-linked intellectual disability type 7
719162001	Radioulnar synostosis with microcephaly and scoliosis syndrome
719163006	Accessory anterior naris
719165004	Spondyloepimetaphyseal dysplasia aggrecan type
719166003	Spondyloepimetaphyseal dysplasia matrilin-3 type
719171005	Spondyloepimetaphyseal dysplasia Missouri type
719172003	Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type
719201004	Spondyloepimetaphyseal dysplasia Shohat type
719202006	Spondyloepiphyseal dysplasia tarda Kohn type
719203001	Spondyloepiphyseal dysplasia Kimberley type
719204007	Spondyloepiphyseal dysplasia Maroteaux type
719205008	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
719212004	Smith Fineman Myers syndrome
719213009	Short stature Brussels type
719255000	Spinocerebellar ataxia type 34
719256004	Pterygium colli with intellectual disability and digital anomaly syndrome
719258003	Pyknoachondrogenesis
71926009	Infective pneumonia acquired prenatally
719268008	Progressive non-infectious anterior vertebral fusion
719271000	Progressive osseous heteroplasia
719275009	Primary hypergonadotropic hypogonadism and partial alopecia syndrome
719298001	Pelvis shoulder dysplasia
719299009	Pelviscapular dysplasia syndrome
719304005	Spondylometaphyseal dysplasia Schmidt type
719305006	Stapes ankylosis with broad thumb and toe syndrome
719306007	Steatocystoma multiplex with natal tooth syndrome
719377004	Microcephalus with albinism and digital anomaly syndrome
719378009	Microcephalus with brachydactyly and kyphoscoliosis syndrome
719379001	Microcephalus with cardiac defect and lung malsegmentation syndrome
719380003	Microcephalus cardiomyopathy syndrome
719394002	Microcephalus cleft palate syndrome
719395001	Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
719397009	Mesomelic dysplasia Kantaputra type
719398004	Malignant hyperthermia with arthrogryposis and torticollis syndrome
719400000	Lethal faciocardiomelic dysplasia
719402008	Lethal hemolytic anemia and genital anomaly syndrome
719404009	Lethal recessive chondrodysplasia
719405005	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
719408007	Lethal omphalocele with cleft palate syndrome
719409004	Lethal Larsen-like syndrome
719427001	15q11q13 microduplication syndrome
719429003	Ectodermal dysplasia with acanthosis nigricans syndrome
719430008	Leber plus disease
719432000	Late-onset junctional epidermolysis bullosa
719450007	Disorder of sex development with intellectual disability syndrome
719451006	Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome
719452004	Congenital bronchobiliary fistula
719453009	Congenital dyserythropoietic anemia type IV
719456001	Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome
719466009	Cleft palate with short stature and vertebral anomaly syndrome
719468005	Cleft palate with stapes fixation and oligodontia syndrome
719471002	Cleidorhizomelic syndrome
719475006	Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome
719518004	Autosomal dominant palmoplantar keratoderma and congenital alopecia
71953008	Congenital anomaly of broad ligament
719574007	14q12 microdeletion syndrome
719575008	15q14 microdeletion syndrome
719576009	16p11.2p12.2 microdeletion syndrome
719577000	16p13.11 microdeletion syndrome
719578005	16p13.11 microduplication syndrome
719580004	16q24.3 microdeletion syndrome
719582007	17p13.3 microduplication syndrome
719583002	17q11.2 microduplication syndrome
719584008	17q23.1q23.2 microdeletion syndrome
719595002	Absence of fingerprints with congenital milia syndrome
719597005	19p13.12 microdeletion syndrome
719599008	19q13.11 microdeletion syndrome
719600006	1p21.3 microdeletion syndrome
719646006	8p11.2 deletion syndrome
719649004	1q44 microdeletion syndrome
719650004	20p12.3 microdeletion syndrome
719651000	2p15p16.1 microdeletion syndrome
719652007	2p21 microdeletion syndrome
719657001	2q23.1 microdeletion syndrome
719658006	2q24 microdeletion syndrome
719659003	2q32q33 microdeletion syndrome
719660008	4q21 microdeletion syndrome
719661007	5q14.3 microdeletion syndrome
719662000	6p22 microdeletion syndrome
719663005	6q25 microdeletion syndrome
719664004	8q22.1 microdeletion syndrome
719665003	5q35 microduplication syndrome
719666002	6q terminal deletion syndrome
719684000	8q12 microduplication syndrome
719685004	Absent thumb with short stature and immunodeficiency syndrome
719686003	Distal monosomy 10p
719687007	Gingival fibromatosis with facial dysmorphism syndrome
719688002	Multiple epiphyseal dysplasia Al-Gazali type
719689005	Multiple epiphyseal dysplasia Beighton type
71973003	Congenital aplasia of inner ear
71974009	Hereditary adrenal unresponsiveness to corticotropin
719800009	Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome
719808002	Chromosome Xp11.3 microdeletion syndrome
719811001	X-linked intellectual disability Cabezas type
719812008	X-linked intellectual disability with plagiocephaly syndrome
719813003	X-linked mandibulofacial dysostosis
719815005	X-linked myopathy with excessive autophagy
719816006	X-linked sideroblastic anemia with spinocerebellar ataxia
719819004	Xeroderma pigmentosum and Cockayne syndrome complex
719823007	Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome
719824001	Vici syndrome
719825000	X-linked intellectual disability, macrocephaly, macroorchidism syndrome
719833004	Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome
719834005	Wilson Turner syndrome
719835006	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome
719836007	X-linked distal arthrogryposis multiplex congenita
719837003	X-linked dominant chondrodysplasia Chassaing Lacombe type
719840003	Renal dysplasia with limb defect syndrome
719842006	Congenital hypoplasia of ulna and intellectual disability syndrome
719843001	Ulna fibula ray defect and brachydactyly syndrome
719844007	Ulceration of umbilical cord and atresia of intestine syndrome
719845008	Van den Ende-Gupta syndrome
71988008	Aase syndrome
7199000	Tuberous sclerosis syndrome
719907006	Timothy syndrome type 2
719909009	Chromosome Xq28 trisomy syndrome
719910004	Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome
719911000	Trichodysplasia with amelogenesis imperfecta syndrome
719944006	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
719945007	Taurodontia with absent teeth and sparse hair syndrome
719946008	Tel Hashomer camptodactyly syndrome
719947004	Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome
719948009	Trigonocephaly with bifid nose and acral anomaly syndrome
719949001	Trigonocephaly with broad thumb syndrome
719950001	Triphalangeal thumb and polysyndactyly syndrome
719951002	Triphalangeal thumb with brachyectrodactyly syndrome
719972004	Haddad syndrome
719973009	Haim Munk syndrome
720009004	Intractable diarrhea with choanal atresia and eye anomaly syndrome
720010009	Microphthalmia with brain atrophy syndrome
72014004	Abnormal fetal duplication
720345008	Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
720394008	Congenital tracheobiliary fistula
720408003	Acrofrontofacionasal dysostosis
720410001	Acrootoocular syndrome
720412009	Acropectoral syndrome
720414005	Acrorenal mandibular syndrome
720415006	Acrorenoocular syndrome
720416007	Acrocapitofemoral dysplasia
720417003	Acrocephalopolydactyly
720418008	Acrocraniofacial dysostosis
720419000	Acrofacial dysostosis Catania type
720427009	Acrofacial dysostosis Kennedy Teebi type
720429007	Acrofacial dysostosis Palagonia type
720430002	Acrofacial dysostosis Rodriguez type
720456009	Acromegaloid facial appearance syndrome
720457000	Acropectorovertebral dysplasia
720458005	Acrorenal syndrome
720463009	Adducted thumbs and arthrogryposis syndrome Christian type
720464003	Acro-dermato-ungual-lacrimal-tooth syndrome
720467005	Aniridia and absent patella syndrome
720468000	Aniridia and intellectual disability syndrome
720492008	Ankylosing vertebral hyperostosis with tylosis syndrome
720494009	Anonychia with microcephaly syndrome
720495005	Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
720496006	Anophthalmia plus syndrome
720498007	Aphalangy and syndactyly with microcephaly syndrome
720499004	Aplasia cutis with myopia syndrome
720500008	Aplasia cutis congenita with intestinal lymphangiectasia syndrome
720501007	Arachnodactyly with abnormal ossification and intellectual disability syndrome
720502000	Arachnodactyly and intellectual disability with facial dysmorphism syndrome
720511000	Arrhinia with choanal atresia and microphthalmia syndrome
720512007	Arterial dissection and lentiginosis syndrome
720513002	Arthrogryposis with renal dysfunction and cholestasis syndrome
720514008	Arthrogryposis multiplex congenita and whistling face syndrome
720515009	Distal arthrogryposis type 6
720518006	Athabaskan brainstem dysgenesis syndrome
720519003	Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
720520009	Attenuated Chédiak-Higashi syndrome
720521008	Autosomal dominant macrothrombocytopenia
720565000	Bohring Opitz syndrome
720567008	Bosley Salih Alorainy syndrome
720568003	Brachydactyly and arterial hypertension syndrome
720569006	Brachydactyly type A2
720570007	Brachydactyly type A5
720571006	Brachydactyly type A7
720572004	Brachydactyly with syndactyly Zhao type
720573009	Brachymorphism with onychodysplasia and dysphalangism syndrome
720574003	Brachytelephalangy, facial dysmorphism, Kallmann syndrome
720575002	Braddock syndrome
720576001	Brain calcification Rajab type
720598005	Doughnut lesion of calvaria and bone fragility syndrome
720599002	Campomelia Cumming type
720600004	Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome
720601000	Camptodactyly and tall stature with scoliosis and hearing loss syndrome
720602007	Camptodactyly syndrome Guadalajara type 1
720603002	Camptodactyly syndrome Guadalajara type 2
720605009	Cardiac anomaly and heterotaxy syndrome
720606005	Cardiocranial syndrome Pfeiffer type
720610008	Cardiomyopathy and renal anomaly syndrome
720612000	Cardiospondylocarpofacial syndrome
720632004	Central bilateral macrogyria
720633009	Syndactyly type 7
720634003	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
720635002	Cerebro-facio-thoracic dysplasia
720636001	Cholestasis with pigmentary retinopathy and cleft palate syndrome
720638000	Charcot-Marie-Tooth disease type 4J
720639008	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
720640005	Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome
720746006	Contracture with ectodermal dysplasia and orofacial cleft syndrome
720747002	Cooks syndrome
720748007	Aural atresia with multiple congenital anomalies and intellectual disability syndrome
720749004	Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
720752007	Coxopodopatellar syndrome
720753002	Cranioosteoarthropathy
720754008	Craniofacial conodysplasia syndrome
720755009	Craniofacial dyssynostosis syndrome
720756005	Craniofacial ulnar renal syndrome
720757001	Craniofrontonasal dysplasia with Poland anomaly syndrome
720812002	Craniosynostosis, anal anomaly, porokeratosis syndrome
720813007	Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome
720815000	Capra DeMarco syndrome
720816004	Craniosynostosis and intracranial calcification syndrome
720817008	Craniosynostosis Boston type
720818003	Craniosynostosis Philadelphia type
720819006	Curry Jones syndrome
720825005	Cystic leukoencephalopathy without megalencephaly
720826006	Czech dysplasia metatarsal type
720827002	Multiple mitochondrial dysfunctions syndrome
720830009	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
720850008	Choroidal atrophy and alopecia syndrome
720851007	Chondrodysplasia with disorder of sex development syndrome
720852000	Cervical hypertrichosis and peripheral neuropathy syndrome
720853005	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
720855003	Cerebrooculonasal syndrome
720856002	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome
720858001	Ehlers-Danlos syndrome cardiac valvular type
720859009	Ehlers-Danlos syndrome kyphoscoliotic and deafness type
720860004	Ehlers-Danlos syndrome musculocontractural type
720861000	Ehlers-Danlos syndrome progeroid type
720863002	Eiken syndrome
720864008	Encephalopathy due to prosaposin deficiency
72089000	Congenital deformity of nose
720941007	Asparagine-linked glycosylation 1 congenital disorder of glycosylation
720952001	Aplasia of fibula and ectrodactyly syndrome
720953006	Fibular dimelia diplopodia syndrome
720954000	Filippi syndrome
720955004	Fine Lubinsky syndrome
720957007	Deafness with skeletal dysplasia and lip granuloma syndrome
720958002	Frank-Ter Haar syndrome
720976009	Asparagine-linked glycosylation 3 congenital disorder of glycosylation
720977000	Asparagine-linked glycosylation 8 congenital disorder of glycosylation
720978005	Asparagine-linked glycosylation 9 congenital disorder of glycosylation
720979002	Alopecia, contracture, dwarfism, intellectual disability syndrome
720980004	Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome
720981000	Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
720982007	Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
720983002	Amaurosis hypertrichosis syndrome
720984008	Angel-shaped phalangoepiphyseal dysplasia
720986005	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
720987001	Aniridia, ptosis, intellectual disability, familial obesity syndrome
721007005	Hair defect with photosensitivity and intellectual disability syndrome
721008000	Hall Riggs syndrome
721009008	Heart defect and limb shortening syndrome
721010003	Heart-hand syndrome type 2
721013001	Heart-hand syndrome type 3
721014007	Heart-hand syndrome Slovenian type
721015008	Hydrocephalus with endocardial fibroelastosis and cataract syndrome
721017000	Postaxial polydactyly and intellectual disability syndrome
721057002	Thoracic insufficiency syndrome
721069005	Short fifth metacarpal insulin resistance syndrome
721072003	Short stature, pituitary and cerebellar defect and small sella turcica syndrome
721073008	Short stature with webbed neck and congenital heart disease syndrome
721075001	Short tarsus with absence of lower eyelashes syndrome
721076000	Siegler Brewer Carey syndrome
721082002	Dacryocystitis and osteopoikilosis syndrome
721083007	Lymphedema hypoparathyroidism syndrome
721084001	Deaf blind hypopigmentation syndrome Yemenite type
721085000	Deafness, enamel hypoplasia, nail defect syndrome
721086004	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
721087008	Deafness and intellectual disability Martin Probst type syndrome
721089006	Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
721090002	Dermatoosteolysis Kirghizian type
721091003	Dermo-odonto dysplasia
721092005	Developmental malformation, deafness, dystonia syndrome
721094006	Diaphanospondylodysostosis
721095007	Diaphragmatic defect, limb deficiency, skull defect syndrome
721096008	Diffuse palmoplantar keratoderma and acrocyanosis syndrome
721099001	Adult polyglucosan body disease
721100009	Component of oligomeric golgi complex 5 congenital disorder of glycosylation
721105004	Klippel Trenaunay syndrome
721146009	Intellectual disability, epilepsy, bulbous nose syndrome
721147000	Hidrotic ectodermal dysplasia Halal type
721148005	Hip dysplasia Beukes type
721152005	Congenital absence of gastric muscle
721153000	Congenital anomaly of mother complicating pregnancy
721154006	Congenital chalasia of esophagus
721155007	Congenital short esophagus
721158009	Distal 5q deletion syndrome
721161005	Duplication cyst of esophagus
721182004	Long gap atresia of esophagus
721200000	Early-onset X-linked optic atrophy
721208007	Ectodermal dysplasia with blindness syndrome
721221000	Hirschsprung disease with deafness and polydactyly syndrome
721222007	Hirschsprung disease with type D brachydactyly syndrome
721223002	Hirschsprung disease with nail hypoplasia and dysmorphism
721224008	Holmes Gang syndrome
721227001	Hunter McAlpine craniosynostosis syndrome
721229003	Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
721231007	Hydrocephalus with obesity and hypogonadism syndrome
721233005	Hypergonadotropic hypogonadism with cataract syndrome
721234004	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency
721236002	Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
721274005	Congenital infection caused by Echovirus
721296004	Fuhrmann syndrome
721297008	Galloway Mowat syndrome
721583004	Mucocutaneous early congenital syphilis
721584005	Johnson neuroectodermal syndrome
721608001	Hirschsprung disease of rectosigmoid region
721609009	Extensive aganglionosis Hirschsprung disease
721646008	Congenital diverticulitis of small intestine
721647004	Congenital diverticulosis of small intestine
721648009	Congenital diverticulum of small intestine
721649001	Atresia of jejunum type IIIb
721650001	Atresia of jejunum type IV
721688004	Arteriovenous malformation of large intestine
721812005	Cyst of paramesonephric duct
721834007	Hyperinsulinism due to uncoupling protein 2 deficiency
721835008	Acrofrontofacionasal dysostosis type 2
721836009	Hypertelorism with microtia and facial clefting syndrome
721837000	Hypertrichosis and acromegaloid facial appearance syndrome
721842008	Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome
721843003	Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome
721845005	Hypomandibular faciocranial dysostosis
721846006	Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome
721847002	Joubert syndrome with congenital hepatic fibrosis
721862000	Joubert syndrome with oculorenal defect
721873007	Joubert syndrome with orofaciodigital defect
721874001	Juberg Hayward syndrome
721875000	Juberg Marsidi syndrome
721878003	Microphthalmia with brain and digit anomaly
721879006	Microphthalmia with linear skin defect syndrome
721880009	Congenital microgastria with limb reduction defect syndrome
721881008	Microduplication Xp11.22p11.23 syndrome
721882001	Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
721883006	Radioulnar synostosis with developmental delay and hypotonia syndrome
721887007	Puerto Rican infant hypotonia syndrome
721888002	Scalp, ear, nipple syndrome
721902002	Schilbach Rott syndrome
721903007	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
721970009	Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome
721972001	Limb mammary syndrome
721973006	Lipodystrophy, intellectual disability, deafness syndrome
721974000	Lowry MacLean syndrome
721975004	Epiphyseal dysplasia, microcephalus, nystagmus syndrome
721976003	Lung agenesis with heart defect and thumb anomaly syndrome
721977007	Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome
721978002	Lymphedema, atrial septal defect, facial changes syndrome
721979005	Lymphedema and cerebral arteriovenous anomaly syndrome
722002002	Intellectual disability, balding, patella luxation, acromicria syndrome
722003007	Intellectual disability with cataract and kyphosis syndrome
722004001	Agenesis of internal carotid artery
722006004	Isotretinoin embryopathy-like syndrome
722019000	Oculootoradial syndrome
722027009	Kallman syndrome with heart disease
722031003	Kapur Toriello syndrome
722032005	Karsch Neugebauer syndrome
722033000	Macrocephaly, short stature, paraplegia syndrome
722034006	Median nodule of upper lip
722035007	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome
722036008	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
722037004	Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
722051004	Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome
722054007	Ocular albinism with late-onset sensorineural deafness
722055008	Oculopalatocerebral syndrome
722056009	Oculocerebrofacial syndrome Kaufman type
722057000	Oculocutaneous albinism type 5
722058005	Oculocutaneous albinism type 6
722059002	Oculocutaneous albinism type 7
722060007	Oculogastrointestinal muscular dystrophy
722061006	Oculoosteocutaneous syndrome
722062004	Oculotrichodysplasia
722063009	Odonto-tricho-ungual-digito-palmar syndrome
722064003	Odontoleukodystrophy
722065002	Okamoto syndrome
722067005	Severe combined immunodeficiency with hypereosinophilia
722075004	Oro-facial digital syndrome type 10
722105002	Oro-facial digital syndrome type 5
722106001	Oro-facial digital syndrome type 8
722107005	Ossification anomaly with psychomotor developmental delay syndrome
722108000	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
722109008	Osteocraniostenosis
722110003	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome
722111004	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome
722113001	Osteoporosis and oculocutaneous hypopigmentation syndrome
722114007	Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome
722117000	Osteosclerosis, developmental delay, craniosynostosis syndrome
722118005	Congenital nephrotic syndrome due to congenital infection
722122000	Overgrowth, macrocephaly, facial dysmorphism syndrome
722127006	Pacman dysplasia
722132007	Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome
722201004	Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome
722202006	Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome
722203001	Palmoplantar keratoderma with deafness syndrome
722205008	Palmoplantar keratoderma Nagashima type
722206009	Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome
722207000	Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
722209002	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
722210007	Parastremmatic dwarfism
722211006	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
722213009	Severe X-linked intellectual disability Gustavson type
722231005	Perlman syndrome
722280000	Ackerman syndrome
722281001	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
722282008	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
722283003	Agnathia, holoprosencephaly, situs inversus syndrome
722284009	Hypoplasia and coloboma of alar cartilage with telecanthus syndrome
722285005	Albinism with deafness syndrome
722287002	Autism and facial port-wine stain syndrome
722288007	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
722293005	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome
722296002	Book syndrome
722298001	Ballard syndrome
722302009	Glycogen storage disease type II infantile onset
722343009	Glycogen storage disease type II late onset
722369003	Congenital nephrotic syndrome due to diffuse mesangial sclerosis
722375007	Bamforth Lazarus syndrome
722376008	Autosomal recessive popliteal pterygium syndrome
722377004	Paraganglioma and gastric stromal sarcoma syndrome
722378009	Congenital cataract with deafness and hypogonadism syndrome
722379001	Congenital cataract with hypertrichosis and intellectual disability syndrome
722380003	Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
722381004	Congenital cataract, nephropathy, encephalopathy syndrome
722382006	Cataract and microcornea syndrome
722383001	Catel Manzke syndrome
722385008	Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
722389002	Congenital hereditary facial paralysis with variable hearing loss syndrome
722390006	Congenital intrauterine infection-like syndrome
72239002	Long narrow head
722391005	Congenital lethal erythroderma
722392003	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
72242008	Postductal coarctation of aorta
722429003	Distal limb deficiency with micrognathia syndrome
722430008	Distal trisomy 6p syndrome
722431007	Double uterus, hemivagina, renal agenesis syndrome
722432000	Duane anomaly, myopathy, scoliosis syndrome
722433005	Dyschondrosteosis and nephritis syndrome
722434004	Dysspondyloenchondromatosis
722436002	Dystrophic epidermolysis bullosa nails only
722437006	Ectopia lentis, chorioretinal dystrophy, myopia syndrome
722439009	Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
722450007	Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
722451006	Gomez Lopez Hernandez syndrome
722452004	Preaxial deficiency, postaxial polydactyly, hypospadias syndrome
722453009	Cutaneous mastocytosis, short stature, hearing loss syndrome
722454003	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
722455002	Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
722456001	Intellectual disability, developmental delay, contracture syndrome
722457005	Juvenile cataract, microcornea, renal glucosuria syndrome
722458000	Matthew Wood syndrome
722459008	Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
722461004	Meacham syndrome
722463001	Macular coloboma, cleft palate, hallux valgus syndrome
722475006	X-linked congenital dyserythropoietic anemia with thrombocytopenia
722476007	Thickened earlobe with conductive deafness syndrome
722477003	Toriello Carey syndrome
722478008	Skeletal dysplasia with intellectual disability syndrome
722493007	Familial caudal dysgenesis
72252007	Congenital hypoplasia of cardiac vein
722604002	Optic disc dysplasia
72262000	Inborn error of glutathione metabolism
722675000	Laryngo-onycho-cutaneous syndrome
722762005	Ganglioside GM3 synthase deficiency
722853000	Immature ganglionosis of large intestine
722854006	Congenital hypoganglionosis of large intestine
722859001	PTEN hamartoma tumor syndrome
722860006	Congenital perineal groove
722868004	Congenital developmental anomaly of cystic duct
722912007	Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes
722913002	Congenital pulmonary hypoplasia due to lung space occupying lesion
722917001	Congenital cyst of aryepiglottic fold
72292009	Congenital anomaly of larynx
722938007	Congenital central hypothyroidism
722939004	Congenital hypothyroidism due to iodine deficiency
722944006	Congenital hypogonadotropic hypogonadism
722989007	Aplasia of optic nerve
722990003	Congenital atrophy of optic nerve
722992006	Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi
722996009	Congenital malformation of autonomic nervous system
723131006	Megalopapilla
723163000	Basal epidermolysis bullosa simplex
723183004	Aganglionosis of large intestine
72321000119107	Sickle cell trait in mother complicating pregnancy
723304001	Microcephaly, seizure, intellectual disability, heart disease syndrome
723307008	Ethylmalonic encephalopathy
723308003	Epidermolysis bullosa simplex with muscular dystrophy
723309006	Endocrine-cerebro-osteodysplasia syndrome
72331000119105	Thalassemia in mother complicating pregnancy
723332005	Isodicentric chromosome 15 syndrome
723333000	Faciocardiorenal syndrome
723336008	Fallot complex with intellectual disability and growth delay syndrome
723363009	Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
723364003	Hypotrichosis with juvenile macular degeneration syndrome
723365002	Hypotrichosis and intellectual disability syndrome Lopes type
723366001	Macrostomia, preauricular tag, external ophthalmoplegia syndrome
723367005	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
723383005	Midline cleft of lower lip
723403008	Microbrachycephaly, ptosis, cleft lip syndrome
723404002	Microcephalic osteodysplastic dysplasia Saul Wilson type
723405001	Microlissencephaly micromelia syndrome
723406000	Embryopathy caused by mycophenolate mofetil
723409007	Multinodular goiter, cystic kidney, polydactyly syndrome
723411003	Nasopalpebral lipoma coloboma syndrome
723439002	Native American myopathy
723440000	Nephrogenic syndrome of inappropriate antidiuresis
723442008	Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
723444009	Noonan syndrome-like disorder with loose anagen hair
723446006	Polydactyly of index finger
723448007	Polyvalvular heart disease syndrome
723449004	Pierson syndrome
723450004	Pigmented paravenous retinochoroidal atrophy
723451000	Pili torti onychodysplasia syndrome
723453002	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome
723461007	Pierre Robin sequence faciodigital anomaly syndrome
723500009	Autosomal recessive aplasia cutis congenita of limb
723501008	Renier Gabreels Jasper syndrome
723503006	Retinal degeneration, nanophthalmos, glaucoma syndrome
723504000	Ramos Arroyo syndrome
723512008	Revesz syndrome
72352009	Bicuspid aortic valve
723551003	Trichothiodystrophy
723552005	Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency
723553000	Transient bullous dermolysis of newborn
723554006	Aplasia cutis congenita with epibulbar dermoid syndrome
723555007	Thymic, renal, anal, lung dysplasia syndrome
723556008	Thoracolaryngopelvic dysplasia syndrome
723557004	Thiamine-responsive encephalopathy
723578001	Terminal osseous dysplasia and pigmentary defect syndrome
723579009	Tangier disease
723580007	Talo-patello-scaphoid osteolysis syndrome
723581006	Syndactyly, telecanthus, anogenital and renal malformation syndrome
723583009	Steroid dehydrogenase deficiency and dental anomaly syndrome
723584003	Stern Lubinsky Durrie syndrome
723610009	Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome
723611008	Split hand, split foot malformation with sensorineural hearing loss syndrome
723612001	Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
723622007	X-linked spastic paraplegia type 2
723624008	Solute carrier family 35 member A1 congenital disorder of glycosylation
723675006	Sialidosis type 1
723676007	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
723716009	Severe generalized recessive dystrophic epidermolysis bullosa
723720008	Sex reversion, kidney, adrenal and lung dysgenesis syndrome
723819007	Autosomal dominant spastic paraplegia type 36
723820001	Autosomal dominant spastic paraplegia type 4
723821002	Autosomal recessive spastic paraplegia type 44
723822009	Autosomal recessive spastic paraplegia type 46
723823004	Autosomal recessive spastic paraplegia type 53
723824005	Autosomal recessive spastic paraplegia type 54
723825006	Autosomal recessive spastic paraplegia type 55
723826007	Autosomal recessive spastic paraplegia type 57
723827003	Grant syndrome
723830005	Keratosis follicularis, dwarfism, cerebral atrophy syndrome
723867002	Coarctation of aortic arch
723888006	Clinodactyly of toe
723974008	Polysomia
723991007	Angio-osteohypertrophic syndrome
723995003	Schimke immuno-osseous dysplasia
723998001	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
723999009	Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
724001005	Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
724016008	Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome
724064004	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
724066002	Polysyndactyly and cardiac malformation syndrome
724067006	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
724068001	Pericardial and diaphragmatic defect syndrome
724069009	Patterson Stevenson Fontaine syndrome
724070005	Paternal 20q13.2q13.3 microdeletion syndrome
724071009	Congenital hypoplasia of patella
724091002	Neuroectodermal melanolysosomal disease
724092009	Nephrosis, deafness, urinary tract, digital malformation syndrome
724093004	Nephropathy, deafness, hyperparathyroidism syndrome
724094005	Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome
724096007	Congenital disorder of glycosylation type 1f
724097003	Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
724098008	Monosomy 9q22.3 syndrome
724137002	Macrocephaly, obesity, mental disability, ocular abnormality syndrome
724139004	Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
724140002	Microspherophakia with metaphyseal dysplasia syndrome
724141003	Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency
724142005	Carbohydrate deficient glycoprotein syndrome type 2a
724144006	Embryofetopathy caused by methimazole
724145007	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
724146008	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
724147004	8q13 microdeletion syndrome
724170007	Mesoaxial synostotic syndactyly with phalangeal reduction syndrome
724174003	Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome
724177005	Ligase 4 syndrome
724178000	Laryngeal abductor paralysis with intellectual disability syndrome
724206005	Keratin 14 related epidermolysis bullosa simplex
724207001	Kleefstra syndrome
724208006	Keutel syndrome
724212000	Congenital mallet toe
724224007	Palmoplantar keratoderma with clinodactyly syndrome
724225008	Junctional epidermolysis bullosa non-Herlitz type
724226009	Infantile osteopetrosis with neuroaxonal dysplasia syndrome
72424001	Congenital absence of diaphragm
72425000	Bilateral left-sidedness sequence
724275005	Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
724276006	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
724277002	Congenital ichthyosis with hypotrichosis syndrome
724278007	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
724281002	Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
724282009	Hypoparathyroidism, deafness, renal disease syndrome
724284005	Hypertelorism Teebi type
724344004	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
724349009	Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome
724350009	Hereditary hypotrichosis with recurrent skin vesicles syndrome
724351008	Hereditary hyperekplexia
724356003	Hereditary combined deficiency of vitamin K-dependent clotting factors
724361001	Hepatic veno-occlusive disease with immunodeficiency syndrome
724385009	Growth delay due to insulin-like growth factor type 1 deficiency
724435004	Congenital anomaly of descending thoracic aorta
724436003	Congenital anomaly of abdominal aorta
724437007	Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch
724469003	Congenital secondary hydronephrosis
724513009	Congenital aplasia of lacrimal structure
724576005	Pyridoxal 5-phosphate dependent epilepsy
724615008	Congenital J shaped sella turcica
724616009	Occipitalization of atlas
724617000	Congenital wide symphysis pubis
724618005	Congenital club finger
724619002	Congenital radial deviation of finger
724638006	Splenomegaly co-occurrent and due to storage disease
724643004	Transient abnormal myelopoiesis co-occurrent with Down syndrome
724644005	Myeloid leukemia co-occurrent with Down syndrome
724769002	Ataxia co-occurrent and due to phytanic acid storage disease
724775006	X-linked hereditary spastic paraplegia
724837004	Keratinopathic ichthyosis
724840004	Suprabasal epidermolysis bullosa simplex
724842007	Congenital venous malformation of skin
72488000	Niemann-Pick disease, type C, chronic form
724999003	Isolated optic nerve hypoplasia
725026008	Hepatic glycogen synthase deficiency
725027004	Muscle and heart glycogen synthase deficiency
725028009	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
725029001	Frontonasal dysplasia with alopecia and genital anomaly syndrome
725030006	Familial scaphocephaly syndrome McGillivray type
725034002	Familial platelet syndrome with predisposition to acute myelogenous leukemia
725044000	Carbohydrate deficient glycoprotein syndrome type 1o
725045004	46,XY partial gonadal dysgenesis
725046003	Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9
725050005	Autosomal dominant osteopetrosis type 2
725078006	Congenital disorder of glycosylation type 1e
725079003	Congenital disorder of glycosylation type 1j
725084009	Sex chromosome aneuploidy
725096002	Cryptomicrotia brachydactyly syndrome
725097006	Crisponi syndrome
725098001	Craniomicromelic syndrome
725099009	Craniometadiaphyseal dysplasia wormian bone type
725100001	Craniolenticulosutural dysplasia
725101002	Congenital short costocoracoid ligament
725104005	Cheirospondyloenchondromatosis
725135004	Combined immunodeficiency due to CD3gamma deficiency
725136003	Immunodeficiency by defective expression of human leukocyte antigen class 1
725137007	Neutropenia, monocytopenia, deafness syndrome
725138002	Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome
725139005	Spastic paraplegia, optic atrophy, neuropathy syndrome
725140007	Temple Baraitser syndrome
725141006	Atelosteogenesis type 1
725142004	Atelosteogenesis type 3
725145002	Atrial septal defect, atrioventricular conduction defect syndrome
725149008	Auricular abnormality, cleft lip, ocular abnormality syndrome
725164008	Omodysplasia
725165009	Autosomal dominant omodysplasia
725166005	Autosomal recessive omodysplasia
72523005	X-linked ichthyosis with steryl-sulfatase deficiency
725286002	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase
725289009	5-amino-4-imidazole carboxamide ribosiduria
725290000	Combined immunodeficiency due to partial recombination-activating gene 1 deficiency
725291001	Defect of purinergic receptor p2y G protein-coupled 12
725295005	Familial male-limited precocious puberty
725296006	Mucolipidosis type IV
72535009	Cervical rib
725407006	Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
725409009	Polydactyly of biphalangeal thumb
725417001	Carbohydrate sulfotransferase 3 related skeletal dysplasia
725419003	Centripetalis recessive dystrophic epidermolysis bullosa
725420009	Congenital muscular dystrophy Paradas type
725434009	Autosomal recessive faciodigitogenital syndrome
725461009	Microcephalic osteodysplastic primordial dwarfism types I and III
725462002	Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
725587007	Carbohydrate deficient glycoprotein syndrome type 2d
725588002	Bathing suit ichthyosis
725591002	Congenital enterocyte heparan sulfate deficiency
725592009	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
7259005	Mucopolysaccharidosis IV-A
725903003	Autosomal dominant myoglobinuria
725904009	Genochondromatosis type 2
725905005	Infundibulopelvic stenosis multicystic kidney syndrome
725906006	Intellectual disability Buenos Aires type
725908007	Neurofaciodigitorenal syndrome
725910009	Congenital duplication of rectum
725911008	Pierre Robin sequence, congenital heart defect, talipes syndrome
726021008	Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
726029005	McCune Albright syndrome
726031001	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
726032008	Short rib polydactyly syndrome type I
726051002	Myotonia congenita
726079008	Hereditary hypercarotenemia and vitamin A deficiency
726083008	Congenital sacral meningocele with conotruncal heart defect syndrome
726106004	X-linked diffuse leiomyomatosis with Alport syndrome
726116007	Congenital anomaly of bone of shoulder girdle
726117003	Congenital deformity of toe
726334003	Congenital dacryocele
726335002	Common atrioventricular junction
726338000	Partial trisomy of chromosome 1
726339008	Partial trisomy of short arm of chromosome 1
726340005	Partial trisomy of chromosome 2
726341009	Partial trisomy of chromosome 3
726342002	Partial trisomy of chromosome 4
726343007	Partial trisomy of chromosome 5
726344001	Partial trisomy of long arm of chromosome 5
726345000	Partial trisomy of chromosome 6
726346004	Partial trisomy of chromosome 7
726347008	Partial trisomy of chromosome 8
726348003	Partial trisomy of chromosome 9
726349006	Partial trisomy of chromosome 10
726350006	Partial trisomy of chromosome 11
726351005	Partial trisomy of chromosome 12
726352003	Partial trisomy of chromosome 13
726353008	Partial trisomy of chromosome 14
726354002	Partial trisomy of chromosome 15
726355001	Partial trisomy of chromosome 16
726356000	Partial trisomy of chromosome 17
726357009	Partial trisomy of chromosome 18
726358004	Partial trisomy of chromosome 19
726359007	Partial trisomy of short arm of chromosome 19
726360002	Partial trisomy of chromosome 20
726361003	Partial trisomy of chromosome 21
726362005	Partial trisomy of chromosome 22
726363000	Tetraploidy
726364006	Complete monosomy of autosome
726365007	Deletion of part of chromosome 1
726366008	Deletion of part of chromosome 2
726367004	Deletion of part of long arm of chromosome 2
726368009	Deletion of part of short arm of chromosome 2
726369001	Deletion of part of chromosome 3
726370000	Deletion of part of long arm of chromosome 3
726371001	Deletion of part of chromosome 4
726372008	Deletion of part of chromosome 5
726373003	Deletion of part of long arm of chromosome 5
726374009	Deletion of part of chromosome 6
726375005	Deletion of part of long arm of chromosome 6
726376006	Deletion of part of short arm of chromosome 6
726377002	Deletion of part of chromosome 7
726378007	Deletion of part of chromosome 8
726379004	Deletion of part of chromosome 9
726380001	Deletion of part of chromosome 10
726381002	Deletion of part of chromosome 11
726382009	Deletion of part of chromosome 12
726383004	Deletion of part of long arm of chromosome 12
726384005	Deletion of part of chromosome 13
726385006	Deletion of part of chromosome 14
726386007	Deletion of part of chromosome 15
726387003	Deletion of part of chromosome 16
726388008	Deletion of part of short arm of chromosome 16
726389000	Deletion of part of chromosome 17
726390009	Deletion of part of short arm of chromosome 17
726391008	Deletion of part of chromosome 18
726392001	Deletion of part of chromosome 19
726393006	Deletion of long arm of chromosome 19
726394000	Deletion of short arm of chromosome 19
726395004	Deletion of part of chromosome 20
726396003	Deletion of part of long arm of chromosome 20
726397007	Deletion of part of short arm of chromosome 20
726398002	Deletion of part of chromosome 21
726399005	Deletion of part of chromosome 22
726400003	Uniparental disomy
726401004	Uniparental disomy of maternal origin
726402006	Uniparental disomy of paternal origin
726406009	Congenital malposition of eyelid
726407000	Dystopia canthorum
72645004	Uterus bicornis bicollis
7265005	Glycogen storage disease, type I
726571000000105	Absent right sided atrioventricular connection with straddling valve
726581000000107	Absent left sided atrioventricular connection with straddling valve
7266006	Total placenta previa with intrapartum hemorrhage
726606003	Autosomal recessive spastic paraplegia type 32
726607007	Autosomal recessive spastic paraplegia type 26
726608002	Autosomal recessive spastic paraplegia type 23
726609005	Autosomal recessive spastic paraplegia type 64
726610000	Autosomal recessive spastic paraplegia type 63
726611001	Autosomal recessive spastic paraplegia type 61
726619004	Ptosis, strabismus, ectopic pupil syndrome
726620005	Arthrogryposis hyperkeratosis syndrome lethal form
726621009	Caudal appendage deafness syndrome
726622002	Spastic paraplegia with Paget disease of bone syndrome
726629006	Scalp defect postaxial polydactyly syndrome
726670008	Weaver Williams syndrome
726672000	Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
726702005	Epileptic encephalopathy with global cerebral demyelination
726703000	Digestive duplication cyst of tongue
726704006	Cataract, congenital heart disease, neural tube defect syndrome
726705007	3q13 microdeletion syndrome
726706008	4p16.3 microduplication syndrome
726707004	7q11.23 microduplication syndrome
726708009	Familial isolated congenital asplenia
726709001	Intellectual disability, cataract, calcified pinna, myopathy syndrome
726722009	Hemifacial microsomia with radial defect syndrome
726723004	Ring chromosome 13 syndrome
726724005	Splenogonadal fusion, limb defect, micrognathia syndrome
726732002	X-linked intellectual disability Nascimento type
726733007	Chromosome Xp22.3 microdeletion syndrome
726734001	Short stature locking fingers syndrome
726735000	Autosomal recessive amelia
727071000000103	Malaligned atrial septum with flap valve to muscular rim of oval fossa
727151000000108	Right superior vena cava connecting to coronary sinus and right sided atrium
727161000000106	Right superior vena cava connecting to coronary sinus and left sided atrium
727221000000107	Left superior vena cava persisting to coronary sinus and right atrium
727801000000102	Congenital pulmonary venous confluence in vertical orientation
727811000000100	Congenital pulmonary venous confluence in horizontal orientation
727821000000106	Congenital pulmonary venous confluence in direct proximity to left atrium
727831000000108	Congenital pulmonary venous confluence remote from left atrium
72831007	Vitamin D-dependent rickets, type 2
728371000000102	Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium
728381000000100	Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium with pulmonary venous chamber communication
728391000000103	Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium with pulmonary venous chamber communication to right atrium
728401000000100	Divided left atrium with all pulmonary veins to proximal chamber draining to left atrium with pulmonary venous chamber extracardiac communication
728481000000105	Non-restrictive interatrial communication septal defect
728491000000107	Restrictive interatrial communication septal defect
72855002	Congenital prognathism
72881003	Megaloappendix
728851000000102	Retro-aortic brachiocephalic vein
728911000000108	Azygos continuation of inferior vena cava to left superior vena cava
72913007	Moore-Federman syndrome
72922008	Short rib-polydactyly syndrome, Majewski type
72925005	Congenital cystic disease of liver
72948000	Congenital anomaly of epiglottis
72951007	Gastroschisis
72991005	Polyploidy syndrome
73035005	10q partial trisomy syndrome
7305005	Coarctation of aorta
73068003	X-linked variant form of thyroxine-binding globulin
73073009	Hereditary elliptocytosis due to beta spectrin defect in self-association
73119000	Retinitis pigmentosa-deafness-ataxia syndrome
73123008	Mucopolysaccharidosis type I-S
73146005	Hunter's syndrome, severe form
73190000	epsilon gamma delta beta^0^ Thalassemia
7322007	Accessory adrenal cortex
732245008	Pure mitochondrial myopathy
732246009	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
732247000	Cleft lip retinopathy syndrome
732248005	Coxoauricular syndrome
732249002	Bone dysplasia lethal Holmgren type
732250002	Craniosynostosis fibular aplasia syndrome
732251003	Cortical blindness, intellectual disability, polydactyly syndrome
732252005	Carbohydrate deficient glycoprotein syndrome type 2k
732259001	Distal monosomy 17q
732261005	Cyprus facial neuromusculoskeletal syndrome
732262003	Marfanoid syndrome De Silva type
732263008	Melhem Fahl syndrome
73284007	Marshall-Smith syndrome
73291005	Congenital absence of parathyroid gland
732926009	Hydrocephalus, tall stature, joint laxity syndrome
732927000	Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome
732928005	Aplasia of trochlea of humerus
732932004	Autosomal recessive spastic paraplegia type 18
732933009	Autosomal recessive spastic paraplegia type 25
732948003	Autosomal dominant spastic paraplegia type 10
732949006	Autosomal dominant spastic paraplegia type 6
732950006	Ichthyosis, oral and digital anomalies syndrome
732951005	Mitochondrial myopathy, lactic acidosis, deafness syndrome
732952003	Congenital cataract ichthyosis syndrome
732953008	Ectodermal dysplasia and sensorineural deafness syndrome
732954002	Osteopenia, intellectual disability, sparse hair syndrome
732955001	Symphalangism with multiple anomalies of hands and feet syndrome
732956000	Brachydactyly and distal symphalangism syndrome
732957009	Brachydactyly and preaxial hallux varus syndrome
732958004	Spastic paraplegia with precocious puberty syndrome
732961003	Branchial dysplasia, intellectual disability, inguinal hernia syndrome
733028000	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
733029008	Autosomal dominant spastic paraplegia type 29
733030003	Congenital hypoplasia of ulna and split foot syndrome
733031004	Epilepsy, microcephaly, skeletal dysplasia syndrome
733032006	Epilepsy telangiectasia syndrome
733033001	Spinocerebellar ataxia dysmorphism syndrome
733034007	Charlie M syndrome
733037000	German syndrome
733038005	Dysmorphism, pectus carinatum, joint laxity syndrome
733044009	Dermatoleukodystrophy
733045005	Camptobrachydactyly
733046006	Hemifacial hyperplasia strabismus syndrome
733049004	Encephalopathy, intracerebral calcification, retinal degeneration syndrome
733050004	Dysmorphism, short stature, deafness, disorder of sex development syndrome
733062000	Marfanoid habitus with autosomal recessive intellectual disability syndrome
733064004	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
733065003	Myoclonus, cerebellar ataxia, deafness syndrome
733066002	Trigonocephaly, short stature, developmental delay syndrome
733067006	Telecanthus, hypertelorism, strabismus, pes cavus syndrome
733068001	Absent tibia, polydactyly, arachnoid cyst syndrome
733069009	Deafness, vitiligo, achalasia syndrome
733070005	Duplication of eyebrow and syndactyly syndrome
733071009	Deafness, small bowel diverticulosis, neuropathy syndrome
733072002	Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
733083006	Congenital disorder of glycosylation type 1r
733084000	Congenital disorder of glycosylation type 1n
733085004	Congenital disorder of glycosylation type 1p
733086003	Pseudoprogeria syndrome
733087007	Polydactyly myopia syndrome
733088002	Preaxial polydactyly, colobomata, intellectual disability syndrome
733089005	Spastic paraplegia, nephritis, deafness syndrome
733091002	Isolated hereditary congenital facial paralysis
733092009	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
733093004	Banki syndrome
733094005	Dandy-Walker malformation with postaxial polydactyly syndrome
733095006	Skeletal dysplasia brachydactyly syndrome
733096007	Thyrocerebrorenal syndrome
733097003	Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
733110004	Van den Bosch syndrome
733111000	Congenital disorder of glycosylation type 1w
733112007	Congenital disorder of glycosylation type 1x
733113002	Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
733115009	Congenital disorder of glycosylation type 1y
733116005	Aniridia, renal agenesis, psychomotor retardation syndrome
733117001	Thumb stiffness, brachydactyly, intellectual disability syndrome
733118006	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
733194007	Dementia co-occurrent and due to Down syndrome
733300002	Deletion of part of long arm of chromosome 17
733302005	Congenital cyst of orbit
73331006	Hemimyelia
733416004	Exostosis, anetoderma, brachydactyly type E syndrome
733417008	Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
733418003	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
733419006	Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
733425005	Acrocephalopolysyndactyly type IV
733450008	Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1
733451007	Congenital disorder of glycosylation type 1s
733452000	Leukoencephalopathy, dystonia, motor neuropathy syndrome
733453005	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
733454004	Long thumb brachydactyly syndrome
733455003	Spastic paraplegia, glaucoma, intellectual disability syndrome
733456002	Triphalangeal thumb and dislocation of patella syndrome
733457006	Ehlers-Danlos and osteogenesis imperfecta syndrome
733466005	Camptodactyly taurinuria syndrome
733467001	Hereditary anetoderma
733468006	Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome
733469003	Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome
733472005	Microcephalus, glomerulonephritis, marfanoid habitus syndrome
733473000	16p13.3 microduplication syndrome
733491005	Carney complex
733518000	16p11.2p12.2 microduplication syndrome
733519008	17q12 microdeletion syndrome
733520002	20q13.33 microdeletion syndrome
733521003	Distal 16p11.2 microdeletion syndrome
733522005	Megalocornea with intellectual disability syndrome
733599009	Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency
733601006	Congenital disorder of glycosylation type 1q
733604003	Microcephalus, lymphedema, chorioretinopathy syndrome
733605002	XY type gonadal dysgenesis with associated anomalies syndrome
733606001	Summitt syndrome
733621007	46,XX disorder of sex development with skeletal anomalies syndrome
733622000	46,XX disorder of sex development with anorectal anomalies syndrome
733623005	Autism spectrum disorder, epilepsy, arthrogryposis syndrome
733625003	48,XYYY syndrome
733626002	Atypical Norrie disease due to monosomy Xp11.3
733628001	Thoraco-abdominal enteric duplication
733630004	Deficiency of alpha-ketoglutarate dehydrogenase
733636005	3-phosphoglycerate dehydrogenase deficiency juvenile form
733637001	3-phosphoglycerate dehydrogenase deficiency infantile form
733638006	Acral dystrophic epidermolysis bullosa
73371000119103	First branchial cleft cyst
73381000119100	Second branchial cleft cyst
73391000119102	Third branchial cleft cyst
734001	Opocephalus
734016004	17p11.2 microduplication syndrome
734017008	Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
734018003	Ectodermal dysplasia trichoodontoonychial type
734019006	Chronic diarrhea with villous atrophy syndrome
734022008	Wolfram-like syndrome
734024009	Intermediate anorectal malformation
734026006	Isolated congenital megalocornea
734028007	49,XYYYY syndrome
734029004	Distal 22q11.2 microdeletion syndrome
734030009	12q15q21.1 microdeletion syndrome
734031008	Congenital absence of optic chiasma
734173003	Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
734349003	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
734434007	Pyridoxine-dependent epilepsy
734477008	Congenital hydrothorax
73465006	Congenital absence of germinal epithelium of testes
734990008	Primary hyperoxaluria type III
735105001	Elongation of left ramus of mandible
735107009	Elongation of right ramus of mandible
735421004	Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome
735515000	Symptomatic late congenital syphilis
735719008	Neonatal intestinal perforation co-occurrent and due to intestinal atresia
735720002	Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis
73573004	Congenital anomaly of musculoskeletal system
735749005	Myelomeningocele co-occurrent with hydrocephalus
73660006	Congenital subaortic stenosis
736781007	Congenital absence of right mandibular condyle
736782000	Congenital absence of left mandibular condyle
7368005	Double outlet left ventricle
73699003	Common arterial trunk and common origin of pulmonary arteries
737037004	Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome
737155005	Congenital anomaly of atrioventricular valve
737156006	Congenital anomaly of atrioventricular septum
73716000	Congenital cutaneous angiomatosis
737185000	Congenital hyperplasia of lung
737197004	Congenital stenosis of large intestine
737215002	Congenital hypoplasia of odontoid process of axis
737216001	Hypoplasia of sacrum
737217005	Congenital absence of forearm and hand
737219008	Aplasia of patella
737221003	Congenital thrombocytopenia
737227004	Autosomal dominant hereditary spastic paraplegia
737266007	Longitudinal deficiency of upper and lower limbs
737344003	Congenital conductive hearing loss
737377004	Congenital mixed conductive and sensorineural hearing loss
737562008	Multicystic renal dysplasia
737579002	Congenital coloboma of macula lutea
737581000	Tibio-fibular synostosis
738164003	Lop ear deformity
738771004	Male pseudohermaphroditism due to 5-alpha-reductase deficiency
73893000	Congenital toxoplasmosis
7391009	Hemoglobin D trait
73943003	Congenital malposition of digestive organs
74008005	5p partial trisomy syndrome
74012004	Congenital anomaly of pituitary gland
74034002	Isolated dextrocardia
74183001	Partial tetrasomy 9 syndrome
74218008	Coronary artery arising from main pulmonary artery
74223008	Congenital scar
74245009	Congenital absence of fibula
742876007	Peroxisome biogenesis disorder
74294009	Female infertility due to structural congenital anomaly of cervix
74307005	Opodidymus
74320008	Woolf's syndrome
74345006	Congenital disorder due to abnormality of chromosome number OR structure
74350000	Complete trisomy 9 syndrome
74370006	Micromelia
7438000	Congenital atresia of aorta
74398009	XX males
74516008	Craniopagus
74561007	Kommerell's diverticulum
7458004	Diplopodia
74594005	Crossed renal ectopia
74622009	Congenital short hard palate
74650009	Jugular lymphatic obstruction sequence
74769007	Anomaly of chromosome pair 1
74788000	Tongue absent
7481002	Congenital atresia of epiglottis
74820003	Congenital coxa vara
74829002	Persistent cloaca
7484005	Double outlet right ventricle
74877002	Congenital anomaly of spine
74908007	Congenital absence of inferior vena cava
74911008	Dyskeratosis congenita
74912001	Hereditary methemoglobinemia due to globin chain mutation
74919005	Congenital stricture of ureter
74928006	Camptomelic dysplasia
74969002	Congenital ectopic lens
750161000000109	Congenital true tracheal bronchus
75049004	Jeune thoracic dystrophy
75065003	Endemic cretinism
75072002	Nemaline myopathy
75076004	Amyelencephalus
75164001	Pseudohermaphroditism
7522008	Persistent tuberculum impar
75231006	Congenital absence of eustachian tube
75238000	Mucopolysaccharidosis III-C
75270000	Congenital diverticulum of left ventricle
7530009	Asexual dwarfism
75311005	Congenital absence of ossicles of ear
75340008	Congenital keratoconus posticus circumscriptus
75355004	Congenital atresia of external auditory canal
75372006	Congenital anomaly of mitral valve
75398000	Anomalous origin of coronary artery
75443009	Hereditary elliptocytosis due to abnormal protein 4.1
75451007	Thalassemia major
75474006	Congenital absence of nipple
75491005	Amyotrophia congenita
75511006	Congenital deformity of chest wall
755571000000103	Structural central nervous system abnormality
75610003	Mucopolysaccharidosis type I
75617000	Omphalopagus
75633002	Congenital anoperineal fistula
75652008	Familial renal iminoglycinuria
75654009	Benign autosomal dominant osteopetrosis
75667007	Lingual goiter
7573000	Classical phenylketonuria
7586009	14q partial trisomy syndrome
758664007	Isolated follicle stimulating hormone deficiency
75875004	Dominant dystrophic epidermolysis bullosa, albopapular type
7589002	Brachymegalodactyly
75893003	19q partial trisomy syndrome
75922002	Congenital anomaly of ossicles of ear
75937003	Congenital absence of anus
759461000000109	Congenital abnormality of leaflet of mitral valve
75950002	Brachymetacarpia
759521000000100	Congenital abnormality of mitral papillary muscle
759611000000105	Associated mass of left atrioventricular valve leaflet
759621000000104	Gelatinous left atrioventricular valve leaflet
759631000000102	Noncoapting left atrioventricular valve leaflet
759641000000106	Flail of left atrioventricular valve leaflet
75968004	Sotos' syndrome
759731000000107	Anomalous anterolateral muscle bands of left ventricle
759741000000103	Anomalous false tendon of muscle bands of left ventricle
759751000000100	Anomalous posteromedial muscle bands of left ventricle
759761000000102	Left ventricular outflow tract obstruction due to septal hypertrophy
75979009	Johanson-Blizzard syndrome
759871000000104	Two chambered right ventricle with ventricular septal defect above obstruction
759881000000102	Two chambered right ventricle with ventricular septal defect below obstruction
759891000000100	Two chambered right ventricle with ventricular septal defect above and below obstruction
759931000000105	Congenital abnormality of left atrioventricular valve papillary muscle
759941000000101	Congenital subvalvar mitral stenosis
760051000000101	Congenital abnormality of mitral chordae tendinae
7601009	Double urinary meatus
7603007	Platyspondylia
76050008	Hemoglobin C trait
76074006	Agenesis of right lung
76089002	Symmetrical conjoined twins
76098004	Fibrous dysplasia of jaw
7611002	Septo-optic dysplasia sequence
762195006	Congenital bronchogenic cyst
762228008	Congenital cardiovascular disorder
76223006	Bat ear
762250009	Congenital anomaly of great vessel
762251008	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type
762252001	Common arterial trunk with aortic dominance
762253006	Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch
762254000	Congenital dysplasia of tricuspid valve
762272006	Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract
762273001	Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract
762295002	Congenital obstructive hydrocephalus
762402007	Congenital anomaly of zonula
762403002	Cleft hard palate with left cleft lip
762404008	Cleft hard palate with right cleft lip
762405009	Cleft soft palate with left cleft lip
762406005	Cleft soft palate with right cleft lip
762407001	Cleft hard and soft palate with left cleft lip
762408006	Cleft hard and soft palate with right cleft lip
762409003	Cleft palate with left cleft lip
762410008	Cleft palate with right cleft lip
762414004	Microphthalmic socket
76243000	Chronic granulomatous disease, type IVA
762433009	Tetralogy of Fallot with pulmonary atresia co-occurrent with systemic-to-pulmonary collateral artery
762460002	Hemodynamically insignificant ventricular septal defect
76257003	Bicuspid cardiac valve
762580003	Cleft hard palate with bilateral cleft lip and alveolus
762581004	Cleft hard palate with left cleft lip and alveolus
762582006	Cleft hard palate with right cleft lip and alveolus
762583001	Cleft soft palate with bilateral cleft lip and alveolus
762584007	Cleft soft palate with left cleft lip and alveolus
762585008	Cleft soft palate with right cleft lip and alveolus
762586009	Cleft hard and soft palate with bilateral cleft lip and alveolus
762587000	Cleft hard and soft palate with left cleft lip and alveolus
762588005	Cleft hard and soft palate with right cleft lip and alveolus
762658005	Aplasia of auditory canal
762660007	Cleft palate with bilateral cleft lip and alveolus
762662004	Hypoplasia of auditory canal
762725007	Congenital infection caused by Zika virus
76280006	Rudimentary tracheal bronchus
762907005	Agenesis of left kidney
762908000	Agenesis of right kidney
762909008	Agenesis of left kidney co-occurrent with hypoplasia of right kidney
762910003	Agenesis of right kidney co-occurrent with hypoplasia of left kidney
762911004	Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney
762912006	Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney
762913001	Congenital hypoplasia of left kidney
762914007	Congenital hypoplasia of right kidney
763061004	20q11.2 microduplication syndrome
763062006	2q33.1 microdeletion syndrome
763066009	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
763067000	Autosomal dominant congenital benign spinal muscular atrophy
763068005	Autosomal dominant spastic paraplegia type 31
763069002	Autosomal dominant spastic paraplegia type 41
763070001	Autosomal dominant spastic paraplegia type 42
763108005	Submucous cleft palate
763109002	Central cleft of soft palate
763128009	Bipartite talus
763130006	Cleft palate, large ears, small head syndrome
763132003	Coloboma of superior eyelid
763133008	Coloboma of inferior eyelid
763134002	Chondroectodermal dysplasia with night blindness syndrome
763135001	Charcot-Marie-Tooth disease type 4E
763136000	Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
763212006	Combined pancreatic lipase and colipase deficiency
763213001	Conductive deafness, ptosis, skeletal anomalies syndrome
763215008	Congenital ankylosis of temporomandibular joint
763218005	Congenital trigeminal anesthesia
763272003	Distal trisomy 2q
763273008	Distal trisomy 4q
763274002	Distal trisomy 5q
763275001	Distal trisomy 6q
763276000	Distal trisomy 7p
763277009	Distal trisomy 8q
763278004	Facial dysmorphism, cleft palate, loose skin syndrome
763279007	Facial dysmorphism, conductive hearing loss, heart defect syndrome
763280005	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
763312008	Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome
763314009	Congenital muscular dystrophy with hyperlaxity
763315005	Congenital myopathy with myasthenic-like onset
763316006	Congenital patent ductus arteriosus aneurysm
763317002	Isolated congenital syngnathia
763318007	Connective tissue disorder due to lysyl hydroxylase-3 deficiency
763320005	Craniofaciofrontodigital syndrome
763344007	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
763345008	Charcot-Marie-Tooth disease type 4B3
763346009	Fetal akinesia, cerebral and retinal hemorrhage syndrome
763347000	X-linked Charcot-Marie-Tooth disease type 6
763350002	Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
763351003	Spectrin-associated autosomal recessive cerebellar ataxia
763353000	Cerebrofacioarticular syndrome
76336008	Delta beta zero thalassemia
763366000	Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome
763367009	Autosomal recessive spastic paraplegia type 48
763368004	Familial progressive hyperpigmentation and hypopigmentation of skin
763369007	Autosomal dominant spastic paraplegia type 37
763370008	X-linked spastic paraplegia type 34
763373005	Autosomal recessive spastic paraplegia type 5A
763374004	Autosomal dominant spastic paraplegia type 12
763375003	Autosomal dominant spastic paraplegia type 19
763376002	Autosomal recessive spastic paraplegia type 28
763377006	Autosomal spastic paraplegia type 30
763400005	X-linked Charcot-Marie-Tooth disease type 4
763401009	Ichthyosis prematurity syndrome
763402002	Spastic paraplegia, neuropathy, poikiloderma syndrome
763403007	Spastic paraplegia, facial cutaneous lesion syndrome
763404001	Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
763405000	Ring chromosome 15 syndrome
763406004	Ring chromosome 16 syndrome
763407008	Ring chromosome Y syndrome
763455008	X-linked Charcot-Marie-Tooth disease type 1
763457000	X-linked Charcot-Marie-Tooth disease type 2
763458005	X-linked Charcot-Marie-Tooth disease type 3
763460007	X-linked Charcot-Marie-Tooth disease type 5
763462004	X-linked lethal multiple pterygium syndrome
763498007	Incomplete left cleft lip and incomplete left cleft of alveolus
763499004	Incomplete right cleft lip and incomplete right cleft of alveolus
763527007	Distal monosomy 13q syndrome
763528002	Distal monosomy 3p syndrome
763529005	Distal monosomy 7q36 syndrome
763530000	Distal monosomy 9p syndrome
763532008	Familial nasal acilia
763535005	Supernumerary phalanx
763615003	Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
763616002	Velofacioskeletal syndrome
763617006	Congenital lymphangioma of larynx
763618001	Wiedemann Steiner syndrome
763619009	White forelock with malformations syndrome
763620003	Trichodermodysplasia and dental alterations syndrome
763623001	Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
763624007	Syndactyly type 6
763631006	Short stature, wormian bones, dextrocardia syndrome
763658004	Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome
763665007	Craniodigital syndrome and intellectual disability syndrome
763668009	Lichtenstein syndrome
763669001	Spastic ataxia with congenital miosis
763683004	46,XY ovotesticular disorder of sex development
763684005	Craniosynostosis Herrmann Opitz type
763686007	Curly hair, acral keratoderma, caries syndrome
763688008	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
763691008	Familial isolated clinodactyly of finger
763714006	Familial multiple nevi flammei
763716008	Familial vesicoureteral reflux
763720007	Hypermethioninemia due to deficiency of glycine N-methyltransferase
763721006	Hypermethioninemia encephalopathy due to deficiency of adenosine kinase
763722004	Hypotonia, speech impairment, severe cognitive delay syndrome
763727005	Complete left cleft lip and complete left cleft of alveolus
763728000	Complete right cleft lip and complete right cleft of alveolus
763733001	Complete left cleft lip
763734007	Complete right cleft lip
763735008	Bilateral complete cleft lip and bilateral complete cleft of alveolus
763741001	Intellectual disability, alacrima, achalasia syndrome
763742008	Intellectual disability, polydactyly, uncombable hair syndrome
763743003	Intellectual disability, spasticity, ectrodactyly syndrome
763744009	Intellectual disability, brachydactyly, Pierre Robin syndrome
763745005	Intellectual disability Wolff type
763747002	Congenital aneurysm of membranous portion of interventricular septum
763748007	Isolated congenital adermatoglyphia
763753002	Incomplete right cleft lip
763754008	Incomplete left cleft lip
763755009	Dislocation of hip and facial dysmorphism syndrome
763767006	Erythema palmare hereditarium
763768001	Autosomal recessive exfoliative ichthyosis
763773007	Macrocephaly and developmental delay syndrome
763774001	Keipert syndrome
763775000	Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome
763778003	Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
763792009	Leukonychia totalis
763795006	Malan overgrowth syndrome
763797003	Agenesis of corpus callosum and abnormal genitalia syndrome
763798008	Microcephalus, complex motor and sensory axonal neuropathy syndrome
763815000	Oculoauricular syndrome Schorderet type
763821001	Porencephaly, cerebellar hypoplasia, internal malformations syndrome
763828007	Odonto onycho dysplasia with alopecia syndrome
763830009	Oculomaxillofacial dysostosis
763833006	Oro-facial digital syndrome type 1
763834000	Oro-facial digital syndrome type 12
763835004	Oro-facial digital syndrome type 13
763837007	Oro-facial digital syndrome type 14
763839005	Neonatal Marfan syndrome
763860004	Otofaciocervical syndrome
763861000	Pachygyria, intellectual disability, epilepsy syndrome
763863002	Pectus excavatum, macrocephaly, dysplastic nails syndrome
763866005	Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
763867001	Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome
763868006	Short stature homeobox related short stature
763885008	Spondyloepimetaphyseal dysplasia Handigodu type
763886009	Spondyloperipheral dysplasia with short ulna syndrome
763889002	Spina bifida and hypospadias syndrome
763890006	Short stature with delayed bone age due to thyroid hormone metabolism deficiency
763891005	Renal hepatic pancreatic dysplasia
763893008	Multiple epiphyseal dysplasia with severe proximal femoral dysplasia
763895001	Myosclerosis
76401000119105	Congenital anomaly of ureter and renal pelvis
764091001	Right cleft lip
764092008	Left cleft lip
764095005	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
764098007	Prelingual non-syndromic genetic deafness
764100007	Primary intraosseous venous malformation
764106001	Symbrachydactyly of digit of hand
764108000	Wooly hair with palmoplantar keratoderma syndrome
764435003	17q12 microduplication syndrome
764437006	Brachydactyly elbow wrist dysplasia
764440006	19p13.13 microdeletion syndrome
764447009	Distal trisomy 11q
764452004	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
764453009	Action myoclonus renal failure syndrome
764454003	Distal trisomy 13q
764455002	Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
764456001	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
764457005	Cardiac arrhythmia ankyrin-B related
764459008	Distal trisomy 16q
764460003	Spondyloepimetaphyseal dysplasia anauxetic type
764461004	Mosaic trisomy 10 syndrome
764463001	Mosaic trisomy 12 syndrome
764466009	Mosaic trisomy 14 syndrome
76447002	6q partial trisomy syndrome
764500002	Distal trisomy 20q
764512003	Distal trisomy 22q
764517009	Craniofacial cleft
764518004	Distal trisomy 2p
764519007	Distal trisomy 3p
764520001	Distal trisomy 9q
764521002	Encircling double aortic arch
764522009	Familial focal epilepsy with variable foci
764523004	Familial isolated trichomegaly
764524005	Distal 22q11.2 microduplication syndrome
764525006	Cylindrical spirals myopathy
764619001	Mosaic trisomy 15 syndrome
764621006	Mosaic trisomy 16 syndrome
764622004	Mosaic trisomy 17 syndrome
764623009	Mosaic trisomy 2 syndrome
764624003	Mosaic trisomy 20 syndrome
764625002	Mosaic trisomy 22 syndrome
764627005	Mosaic trisomy 3 syndrome
764628000	Mosaic trisomy 4 syndrome
764629008	Mosaic trisomy 5 syndrome
764630003	Mosaic trisomy 7 syndrome
764686003	Autosomal recessive spastic paraplegia type 15
764688002	Autosomal recessive spastic paraplegia type 35
764690001	Tetrasomy 21
764696007	Distal 17p13.3 microdeletion syndrome
764697003	Verloove Vanhorick Brubakk syndrome
764703002	7p22.1 microduplication syndrome
764711007	Xq12-q13.3 duplication syndrome
764725008	9p13 microdeletion syndrome
764732004	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
764733009	Progressive external ophthalmoplegia, myopathy, emaciation syndrome
764734003	Autosomal recessive spastic paraplegia type 21
764736001	Autosomal recessive spastic paraplegia type 43
764739008	Proximal chromosome 18q deletion syndrome
764810000	Branchiootic syndrome
764812008	Autosomal recessive myogenic arthrogryposis multiplex congenita
764854006	Autosomal dominant slowed nerve conduction velocity
764857004	Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
764858009	Isolated agammaglobulinemia
764861005	Intellectual disability Birk-Barel type
764939004	Fundus albipunctatus
764942005	Colobomatous microphthalmia, rhizomelic dysplasia syndrome
764944006	Congenital muscular dystrophy type 1B
764945007	Congenital myopathy with internal nuclei and atypical cores
764946008	Constitutional mismatch repair deficiency syndrome
764950001	Cryptorchidism, arachnodactyly, intellectual disability syndrome
764955006	Laubry Pezzi syndrome
764956007	Larsen-like osseous dysplasia, short stature syndrome
764957003	King Denborough syndrome
764958008	Striate palmoplantar keratoderma
764959000	Intellectual disability, myopathy, short stature, endocrine defect syndrome
764960005	Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency
764962002	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
764963007	Focal palmoplantar and gingival keratoderma
764965000	Familial thoracic aortic aneurysm and aortic dissection
764969006	Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
764989007	Mosaic trisomy 9 syndrome
764992006	Muscle filaminopathy
764994007	Myopathy with hexagonally cross-linked tubular arrays
764995008	Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
764996009	Non-distal trisomy 13q
764997000	Non-distal trisomy 9q
765045003	Autosomal recessive spastic paraplegia type 62
765047006	SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4
765089003	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
765092004	Spheroid body myopathy
765093009	Rolandic epilepsy, speech dyspraxia syndrome
765100000	Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
765137006	Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
765140006	8p23.1 duplication syndrome
765142003	Proximal 16p11.2 microduplication syndrome
765145001	T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency
765146000	Oculocutaneous albinism type 1
765154003	Hypertrophy of right kidney co-occurrent and due to congenital hypoplasia of left kidney
765155002	Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney
765171002	Distal chromosome 18q deletion syndrome
765188009	Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency
765195000	Familial generalized lentiginosis
765197008	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier
76520005	Robinow syndrome
765204000	Dyssegmental dysplasia Silverman Handmaker type
765206003	Constriction ring syndrome
765325002	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
765327005	Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
765329008	Carbamoyl-phosphate synthetase 1 deficiency
765330003	Autosomal dominant polycystic kidney disease
765331004	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
765401006	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
765403009	F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
765434008	Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
765435009	OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
765471005	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
765484001	Ring chromosome 19 syndrome
765485000	Ring chromosome 2 syndrome
765486004	Ring chromosome 3 syndrome
765487008	Ring chromosome 5 syndrome
765488003	Ring chromosome 6 syndrome
765489006	Ring chromosome 7 syndrome
76556008	Hyperphosphatasia-osteoectasia syndrome
76562003	Congenital subcapsular cataract
765750001	Angio-osteohypotrophic syndrome
765753004	Autosomal recessive spastic paraplegia type 45
765755006	Axial mesodermal dysplasia spectrum
765757003	Bilateral polymicrogyria
765758008	Microcephalic primordial dwarfism Montreal type
765761009	Brachydactyly, mesomelia, intellectual disability, heart defect syndrome
765763007	Congenital cyst of larynx
765775002	Dysplasia of left kidney
765776001	Dysplasia of right kidney
765777005	Congenital left vesicoureterorenal reflux
765778000	Congenital right vesicoureterorenal reflux
765812004	Congenital absence of innominate vein
766032007	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
766050000	Distal monosomy 15q syndrome
766051001	Distal trisomy 17q syndrome
766052008	Distal trisomy 19q syndrome
766053003	Distal trisomy 1p36 syndrome
766237006	Maternal uniparental disomy of chromosome 2
766238001	Maternal uniparental disomy of chromosome 4
766239009	Maternal uniparental disomy of chromosome 6
766240006	Maternal uniparental disomy of chromosome 9
766249007	Deafness, nephritis, anorectal malformation syndrome
766251006	Lethal infantile mitochondrial myopathy
76670001	Duchenne muscular dystrophy
766705006	Immunodeficiency due to ficolin 3 deficiency
766708008	Isochromosomy Yp
766709000	Isolated hypoplasia of cerebellar vermis
766710005	Isolated focal cortical dysplasia
766715000	Metabolic myopathy due to lactate transporter defect
766716004	Monosomy 13q34
766717008	Multiple epiphyseal dysplasia due to collagen 9 anomaly
766719006	Paternal uniparental disomy of chromosome 1
766720000	Paternal uniparental disomy of chromosome 21
766721001	Paternal uniparental disomy of chromosome 7
766750008	Multiple epiphyseal dysplasia with miniepiphyses
766751007	Neuhauser anomaly
766753005	Nijmegen breakage syndrome-like disorder
766755003	Tetrasomy 5p
766756002	Subaortic course of innominate vein
766760004	Small ring X chromosome
766761000	X-linked cleft palate and ankyloglossia
766765009	Radio-renal syndrome
766766005	1p31p32 microdeletion syndrome
766767001	Autosomal recessive spastic paraplegia type 67
766812005	Trichodysplasia xeroderma syndrome
766813000	Trichoodontoonychial dysplasia
766816008	2q23.1 microduplication syndrome
766818009	X-linked non progressive cerebellar ataxia
766819001	Severe lateral tibial bowing with short stature
766820007	Spondyloepimetaphyseal dysplasia with multiple dislocations
766821006	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
766824003	Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder
766870005	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
766871009	Diencephalic mesencephalic junction dysplasia
766874001	Cono-spondylar dysplasia
766879006	Combined immunodeficiency due to OX40 deficiency
766881008	Carney complex, trismus, pseudocamptodactyly syndrome
766884000	Familial lambdoid synostosis
766927009	Familial supernumerary nipple
766931003	Hypomyelination neuropathy arthrogryposis syndrome
766934006	Isolated unilateral hemispheric cerebellar hypoplasia
766976003	Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome
766987006	Moebius syndrome
766992008	Multicentric carpotarsal osteolysis syndrome
766999004	Congenital absence of left foot
767000001	Congenital absence of right foot
767001002	Congenital absence of lower leg and foot
767002009	Congenital dislocation of left hip
767003004	Congenital dislocation of right hip
767004005	Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip
767005006	Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip
767029004	Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation
767030009	Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation
767031008	Congenital macrostomia of left side of mouth
767032001	Congenital macrostomia of right side of mouth
767263007	22q11.2 deletion syndrome
767309006	Double aortic arch with dominant left arch and hypoplasia of right arch
767311002	Double aortic arch with dominant right arch and hypoplasia of left arch
767326000	Congenital absence of left hemidiaphragm
767327009	Congenital absence of right hemidiaphragm
767328004	Congenital absence of left testis
767329007	Congenital absence of right testis
76744005	Longitudinal deficiency of fibula
767446006	Congenital instability of left hip joint
767447002	Congenital instability of right hip joint
767497003	Autosomal recessive congenital methemoglobinemia
767498008	Autosomal recessive congenital methemoglobinemia type II
767499000	Autosomal recessive congenital methemoglobinemia type I
767615004	Embryonic cyst of female genital structure
767641005	Embryonic cyst of male genital structure
767815001	Embryonic cyst of omentum
76842000	Complete aphalangia of upper limb
768471006	16p12.2 microdeletion syndrome
768552007	Congenital ventricular septal defect
768555009	5q31.3 microdeletion syndrome
768713003	15q13.3 microduplication syndrome
76880004	Angelman syndrome
768843007	Tall stature, intellectual disability, facial dysmorphism syndrome
768846004	N-glycanase 1 congenital disorder of deglycosylation
768927001	Trisomy 1q syndrome
768929003	Trisomy 8p syndrome
768930008	Partial trisomy of short arm of chromosome 8
768931007	Partial trisomy of long arm of chromosome 1
768932000	Coloboma of choroid and retina
768935003	Multiple epiphyseal dysplasia Lowry type
768939009	Primary tethered cord syndrome
76916001	Spina bifida occulta
769167005	Vaso-occlusive pain co-occurrent and due to sickle cell disease
77016009	Amyoplasia congenita disruptive sequence
770401007	10q22.3q23.3 microdeletion syndrome
770404004	Autosomal recessive chorioretinopathy and microcephaly syndrome
770406002	Brachydactyly type B2
770407006	Chuvash erythrocytosis
770408001	Congenital stenosis of cervical spinal canal
770409009	Crossed polysyndactyly
770410004	Distal monosomy 14q
770411000	Distal monosomy 19p13.3
770432008	Ectasia of left atrial appendage
770433003	Ectasia of right atrial appendage
770435005	Familial bicuspid aortic valve
770438007	Infantile spasm and broad thumb syndrome
770542008	Isochromosomy Yq
770543003	Congenital hypoplasia of part of upper limb
770544009	Congenital hypoplasia of entire upper limb
770560008	Lissencephaly due to LIS1 mutation
770561007	Lower limb malformation hypospadias syndrome
770562000	Maternal uniparental disomy of chromosome 1
770563005	Maternal uniparental disomy of chromosome 13
770564004	Microcephalic primordial dwarfism Alazami type
770565003	Microcephalic primordial dwarfism Dauber type
770566002	Monosomy 13q14 syndrome
770567006	Progeroid syndrome Petty type
770591002	Pseudounicornuate uterus
770595006	Ring chromosome 12 syndrome
770603000	X-linked spondyloepimetaphyseal dysplasia
770604006	X-linked cerebral, cerebellar, coloboma syndrome
770619007	Congenital upper esophageal web
770625006	Combined immunodeficiency with faciooculoskeletal anomalies syndrome
770626007	Congenital Horner syndrome
770627003	Desmin-related myofibrillar myopathy
770629000	Distal 17p13.1 microdeletion syndrome
770631009	Genetic transient congenital hypothyroidism
770655004	Microcephalus, brain defect, spasticity, hypernatremia syndrome
770663003	Tetrasomy 11q24.1
770665005	Non-distal monosomy 10q
770666006	Non-distal trisomy 10q
770668007	Paternal uniparental disomy of chromosome 13
770669004	Paternal uniparental disomy of chromosome 5
770670003	Paternal uniparental disomy of chromosome 6
770679002	Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome
770680004	Prader-Willi-like syndrome
770681000	Robin sequence and oligodactyly syndrome
770719004	3q27.3 microdeletion syndrome
770720005	Autosomal recessive spastic paraplegia type 58
770721009	Microcephaly, thin corpus callosum, intellectual disability syndrome
770724001	Autosomal recessive spastic paraplegia type 70
770725000	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
770728003	Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
770750002	Intellectual disability, seizures, macrocephaly, obesity syndrome
770751003	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
770754006	2p21 microdeletion syndrome without cystinuria
770755007	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
770756008	2p13.2 microdeletion syndrome
770760006	16q24.1 microdeletion syndrome
770784003	Sinoatrial node dysfunction and deafness
770786001	Hereditary inclusion body myopathy type 4
770787005	Benign Samaritan congenital myopathy
770788000	Tall stature, scoliosis, macrodactyly of great toe syndrome
770793002	5p13 microduplication syndrome
770794008	11p15.4 microduplication syndrome
770900000	Familial omphalocele syndrome with facial dysmorphism
770902008	Distal monosomy 12p
770905005	Distal 7q11.23 microdeletion syndrome
770907002	Kagami Ogata syndrome
770908007	49,XXXYY syndrome
770909004	Metaphyseal chondrodysplasia Kaitila type
770940006	Congenital panfollicular nevus
770941005	Alopecia, progressive neurological defect, endocrinopathy syndrome
770942003	Kostmann syndrome
770943008	Dentin dysplasia with sclerotic bone syndrome
770944002	Oculootodental syndrome
770945001	Tetramelic monodactyly
770946000	Postaxial tetramelic oligodactyly
770947009	Autosomal dominant severe congenital neutropenia
770948004	Rhizomelic syndrome Urbach type
77097004	Oculopharyngeal muscular dystrophy
771013004	Pilotto syndrome
771072001	Monosomy 9p
771074000	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
771076003	Leptomyelolipoma
771077007	Intellectual disability, short stature, hypertelorism syndrome
771142009	Cortical dysplasia with focal epilepsy syndrome
771146007	Holoprosencephaly with caudal dysgenesis syndrome
771147003	Isolated arhinencephaly
771148008	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
771149000	Hepatic fibrosis, renal cyst, intellectual disability syndrome
771177009	Ectrodactyly polydactyly syndrome
771178004	Edinburgh malformation syndrome
771179007	Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
771180005	Hallux varus, preaxial polysyndactyly syndrome
771181009	Hypertrichosis cubiti
771182002	Thumb deformity, alopecia, pigmentation anomaly syndrome
771185000	Imperforate oropharynx, costovertebral anomalies syndrome
771186004	Poikiloderma, alopecia, retrognathism, cleft palate syndrome
771234002	Isolated bilateral hemispheric cerebellar hypoplasia
771239007	Hidrotic ectodermal dysplasia Christianson Fourie type
771240009	Pilodental dysplasia, refractive errors syndrome
771261002	Digital extensor muscle aplasia with polyneuropathy
771262009	Pseudoleprechaunism syndrome Patterson type
771263004	Ptosis and vocal cord paralysis syndrome
771264005	Absent radius, anogenital anomalies syndrome
771265006	Teebi Shaltout syndrome
771266007	Torticollis, keloids, cryptorchidism, renal dysplasia syndrome
771267003	Congenital muscular dystrophy with integrin alpha-7 deficiency
771269000	Autosomal dominant multiple pterygium syndrome
771272007	Congenital muscular dystrophy due to lamin A/C mutation
771301002	Axial spondylometaphyseal dysplasia
771303004	Severe neonatal onset encephalopathy with microcephaly
771335004	Ectodermal dysplasia syndactyly syndrome
771336003	Polymicrogyria with optic nerve hypoplasia
771337007	1q21.1 microduplication syndrome
771338002	Parietal foramina with clavicular hypoplasia
771340007	15q11.2 microdeletion syndrome
771341006	14q11.2 microduplication syndrome
771439009	14q22q23 microdeletion syndrome
771442003	Ogden syndrome
771470001	Jawad syndrome
771473004	Papular epidermal nevi with skyline basal cell layers syndrome
771476007	Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
771477003	15q overgrowth syndrome
771478008	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency
771511005	Thrombocythemia with distal limb defect
771512003	Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency
771515001	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
771516000	Solute carrier family 35 member A2 congenital disorder of glycosylation
771517009	Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency
7720002	Metaphyseal chondrodysplasia, McKusick type
7722005	Thoracopagus epigastricus
772224009	Warburg micro syndrome
772225005	RAB18, member RAS oncogene family deficiency
77224008	Spina bifida of lumbar region
77269002	Complete trisomy 16 syndrome
7727004	Acephalorhachia
7731005	Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
77311006	Omphaloangiopagus
773139006	Congenital abnormality of cardiac ventricle
773274001	X-linked intellectual disability, craniofacioskeletal syndrome
773276004	Ehlers-Danlos syndrome spondylocheirodysplastic type
773278003	Familial osteodysplasia Anderson type
773279006	Postaxial polydactyly, dental, vertebral anomalies syndrome
773280009	Hydrocephalus, blue sclera, nephropathy syndrome
773281008	Thakker Donnai syndrome
773282001	Macrosomia, microphthalmia, cleft palate syndrome
773299000	Maternal uniparental disomy of chromosome 16
773300008	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
77330006	Chronic granulomatous disease, type II
773302000	Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome
773303005	Spondyloepimetaphyseal dysplasia Genevieve type
773304004	Spondylometaphyseal dysplasia Golden type
773305003	Microcephaly, polymicrogyria, corpus callosum agenesis syndrome
773306002	Congenital lethal myopathy Compton North type
773307006	Zechi Ceide syndrome
773325004	Distal 7q11.23 microduplication syndrome
773326003	7q31 microdeletion syndrome
773329005	CK syndrome
773331001	Nestor Guillermo progeria syndrome
773332008	Craniosynostosis and dental anomalies syndrome
773345007	Oligodontia and cancer predisposition syndrome
773346008	20p13 microdeletion syndrome
773394007	Autosomal recessive frontotemporal pachygyria
773396009	Distal arthrogryposis type 5D
773398005	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
773400009	Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome
773404000	Roifman syndrome
773406003	Mandibular hypoplasia, deafness, progeroid syndrome
773415005	Contiguous ABCD1 DXS1357E deletion syndrome
773416006	Intellectual disability, facial dysmorphism, hand anomalies syndrome
773418007	Xylosyltransferase 1 congenital disorder of glycosylation
773419004	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome
773425000	Autosomal recessive spastic paraplegia type 59
773426004	Lamin A/C related cardiocutaneous progeria syndrome
773493002	9q31.1q31.3 microdeletion syndrome
773494008	14q24.1q24.3 microdeletion syndrome
773497001	Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
773501006	Epidermolysis bullosa simplex due to BP230 deficiency
773503009	Epidermolysis bullosa simplex due to exophilin 5 deficiency
773547003	13q12.3 microdeletion syndrome
773548008	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
773551001	Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome
773552008	Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
773554009	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
773556006	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
773557002	Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome
773575001	Ocular albinism with congenital sensorineural deafness
773578004	Spondylocostal dysostosis, hypospadias, intellectual disability syndrome
773579007	Congenital chronic diarrhea with protein-losing enteropathy
77358003	Congenital leukocyte adherence deficiency
773581009	Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
773583007	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
773584001	Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
773586004	Incomplete ossification of skull
773588003	Incomplete ossification of vertebra
773610007	Chudley McCullough syndrome
773621003	Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
773622005	Craniofacial dysplasia osteopenia syndrome
773623000	Spigelian hernia with cryptorchidism syndrome
773625007	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
773626008	Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome
773627004	Porencephaly, microcephaly, bilateral congenital cataract syndrome
773628009	Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
773643006	Multiple congenital anomalies, hypotonia, seizures syndrome type 2
773644000	Progeroid and marfanoid aspect, lipodystrophy syndrome
773648002	Congenital cataract, hearing loss, severe developmental delay syndrome
773665006	Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
773667003	Hypertelorism, preauricular sinus, punctual pits, deafness syndrome
773670004	Distal Xq28 microduplication syndrome
773672007	Lethal occipital encephalocele, skeletal dysplasia syndrome
773673002	Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome
773690008	Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome
773691007	Congenital erosive and vesicular dermatosis
773692000	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
773693005	Spondylo-megaepiphyseal-metaphyseal dysplasia
773699009	Pitt Hopkins-like syndrome
773700005	Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome
773702002	Sterile multifocal osteomyelitis with periostitis and pustulosis
773730002	Osteopetrosis hypogammaglobulinemia syndrome
773733000	Humeroradioulnar synostosis
773735007	Deafness with onychodystrophy syndrome
773737004	Nephrocystin 3-related Meckel-like syndrome
773749003	Genitopalatocardiac syndrome
773750003	Flat face, microstomia, ear anomaly syndrome
773768000	Emery Nelson syndrome
773769008	Ataxia, photosensitivity, short stature syndrome
773770009	Ankyloblepharon filiforme adnatum with imperforate anus syndrome
773773006	Acrodysplasia scoliosis
773984007	Piebald trait with neurologic defects syndrome
773985008	Peripheral dysostosis
774065001	Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome
774068004	AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
774070008	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome
774071007	Pancytopenia with developmental delay syndrome
774102003	Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome
77414002	Cheilognathoschisis
774148007	Polyglucosan body myopathy type 1
774150004	Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
774155009	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
774203000	Intellectual disability, severe speech delay, mild dysmorphism syndrome
774205007	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
774208009	Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome
774209001	Didymosis aplasticosebacea
774211005	Severe dermatitis, multiple allergies, metabolic wasting syndrome
774212003	Microcornea, myopic chorioretinal atrophy, telecanthus syndrome
77471004	Synotus
77479002	Deutan defect
77480004	Congenital biliary atresia
77497005	3p partial trisomy syndrome
77527000	9p partial trisomy syndrome
77542002	Grebe syndrome
775907000	Congenital pontocerebellar hypoplasia type 9
775909002	Congenital neutropenia, myelofibrosis, nephromegaly syndrome
77593006	Congenital bronchiectasis
77595004	Reduction deformity of lower limb
77608001	Baller-Gerold syndrome
7762009	Paraspadias
776204008	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
7763004	Dicephalus dipus tribrachius
776417008	Acroosteolysis, keloid-like lesions, premature aging syndrome
77696009	Double aortic valve
77701002	Multiple malformation syndrome, moderate short stature, facial
77761000	Congenital absence of ureter
77782006	Syphilitic saddle nose
777998000	Temtamy preaxial brachydactyly syndrome
778000002	3q26q27 microdeletion syndrome
778005007	Duplication of pituitary gland
778006008	Autosomal dominant aplasia and myelodysplasia
778007004	12p12.1 microdeletion syndrome
778008009	Fibroblast growth factor receptor 2-related bent bone dysplasia
778009001	Blepharophimosis, intellectual disability syndrome, Verloes type
778010006	Skin fragility, wooly hair, palmoplantar keratoderma syndrome
778011005	Severe intellectual disability and progressive spastic paraplegia
778012003	Temple syndrome
778021002	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
778022009	Ehlers-Danlos syndrome due to tenascin-X deficiency
778023004	Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency
778024005	Monocytopenia with susceptibility to infections
778026007	Lethal polymalformative syndrome Boissel type
778030005	Autosomal recessive spastic paraplegia type 27
778042000	Foveal hypoplasia with presenile cataract syndrome
778043005	Ring chromosome 17 syndrome
778048001	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
778067002	Brachytelephalangic chondrodysplasia punctata
778068007	Autosomal recessive cutis laxa type 2B
778069004	Autosomal dominant prognathism of mandible
778070003	Autosomal dominant primary microcephaly
77807009	Complete trisomy 10 syndrome
778073001	3q26 microduplication syndrome
77817004	Neu-Laxova syndrome
77956009	Steinert myotonic dystrophy syndrome
77976003	Pygomelus
77978002	Persistent left superior vena cava
78018008	Complete phocomelia of upper limb
78044008	Atlanto-occipital malformation
78071008	Hydromicrocephaly
780818005	Congenital fistula of pinna of ear
780819002	Congenital cyst of pinna of ear
780820008	Isolated adenosine triphosphate synthase deficiency
780842009	Aortopulmonary coronary arterial course
7810004	Glycoprotein storage disorder
781065009	Transposition of inferior vena cava
781159007	Congenital levorotation of heart
781641005	Schwannomatosis
78196008	Double mitral valve
782194002	Median raphe cyst
782332007	Congenital negative ulnar variant of wrist
78250005	Ectopia cordis
782669004	10q22.3q23.3 microduplication syndrome
782670003	Autosomal dominant spastic paraplegia type 3
782673001	Distal monosomy 4q
782674007	Distal monosomy 7p
782676009	Distal trisomy 18q
782679002	Familial congenital palsy of trochlear nerve
782689003	Congenital pseudoarthrosis of limb
782691006	Maternal uniparental disomy of chromosome 21
782692004	Maternal uniparental disomy of chromosome 22
782694003	Non-distal monosomy 12q
782696001	Recessive mitochondrial ataxia syndrome
782698000	Congenital atresia of ostium of coronary artery
782699008	Congenital stenosis of ostium of coronary artery
782720005	Congenital pontocerebellar hypoplasia type 10
782722002	Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome
782723007	Severe intellectual disability, progressive spastic diplegia syndrome
782724001	Multisystemic smooth muscle dysfunction syndrome
782725000	Autosomal recessive spastic paraplegia type 69
782726004	Autosomal recessive spastic paraplegia type 71
782727008	Autosomal spastic paraplegia type 72
782736007	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
782737003	Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
782739000	Male emopamil-binding protein disorder with neurological defect
782744007	Lipoic acid synthetase deficiency
782745008	Lipoyl transferase 1 deficiency
782746009	Autosomal recessive spastic paraplegia type 60
782747000	Autosomal recessive spastic paraplegia type 66
782751003	Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency
782753000	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
782754006	Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
782755007	Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
782757004	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
782758009	Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome
782759001	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
782771007	Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form
782772000	Congenital muscular dystrophy with intellectual disability and severe epilepsy
782773005	Lethal arteriopathy syndrome due to fibulin-4 deficiency
782780007	Marfanoid habitus, inguinal hernia, advanced bone age syndrome
782781006	High bone mass osteogenesis imperfecta
782782004	Autosomal recessive spondylometaphyseal dysplasia Megarbane type
782783009	Oculoauriculofrontonasal syndrome
782785002	X-linked osteoporosis with fractures
782786001	X-linked calvarial hyperostosis
782820003	Spondylometaphyseal dysplasia Czarny Ratajczak type
782821004	Spondyloepimetaphyseal dysplasia Isidor type
782825008	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
782877002	Xp22.13p22.2 duplication syndrome
782879004	Occipital pachygyria and polymicrogyria
782880001	Hemoglobinopathy Toms River
782882009	Chondrodysplasia with joint dislocations gPAPP type
782884005	Pontine tegmental cap dysplasia
782886007	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
782887003	Inherited congenital spastic tetraplegia
782912001	Spondylometaphyseal dysplasia A4 type
782913006	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
782914000	Brachydactyly, short stature, retinitis pigmentosa syndrome
782916003	Dermotrichic syndrome
782917007	Familial adrenal hypoplasia with absent pituitary luteinizing hormone
782937006	Extensor tendons of finger anomalies
782940006	Dobrow syndrome
782941005	Richieri Costa-da Silva syndrome
782942003	Renal caliceal diverticuli and deafness syndrome
782945001	Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome
782949007	Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
782951006	Thoracic dysplasia and hydrocephalus syndrome
783003009	Thoracomelic dysplasia
783004003	Thin ribs, tubular bones, dysmorphism syndrome
783005002	Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
783011004	Persistent Eustachian valve
783057002	DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome
783058007	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
783059004	Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency
783061008	Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
783064000	Progressive myoclonic epilepsy type 3
783089006	Macrocephaly, intellectual disability, autism syndrome
783091003	46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
783092005	46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency
783094006	Autosomal recessive spastic paraplegia type 14
783095007	Aplasia of uterine cervix
783096008	Subaortic stenosis and short stature syndrome
783097004	Stickler syndrome type 3
783099001	Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome
783137003	Radial deficiency, tibial hypoplasia syndrome
783140003	Pelvic dysplasia, arthrogryposis of lower limbs syndrome
78314001	Osteogenesis imperfecta
783143001	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
783149002	Mosaic genome-wide paternal uniparental disomy
783156008	Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
783159001	Holzgreve syndrome
783164002	Distal monosomy 20q
783165001	Dysplastic cortical hyperostosis
78317008	XXXY syndrome
783174004	Congenital muscular dystrophy with intellectual disability
783175003	Congenital muscular dystrophy without intellectual disability
783176002	Congenital muscular dystrophy with cerebellar involvement
783177006	Congenital hypothyroidism due to maternal intake of antithyroid drug
783181006	Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
783194008	Bleeding diathesis due to thromboxane synthesis deficiency
783198006	Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation
783199003	Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency
78320000	Quadricuspid cardiac valve
783200000	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency
783201001	Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
783202008	Autosomal dominant secondary polycythemia
783204009	Ankyloblepharon filiforme adnatum with cleft palate syndrome
783230008	Agenesis of body of uterus
783231007	Aplasia of body of uterus
783246000	Megalocornea, spherophakia, secondary glaucoma syndrome
783248004	Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection
783249007	Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection
783250007	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
783254003	Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome
783255002	Hereditary isolated aplastic anemia
783400002	Complete cleft of hard palate
783407004	Incomplete cleft palate
783409001	Ectopic artery
783551005	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
783553008	Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome
783558004	Combined oxidative phosphorylation defect type 11
783559007	Reunion Island Larsen-like syndrome
783562005	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
783617001	Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency
783619003	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
783620009	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis
783622001	Autosomal dominant spastic paraplegia type 38
783629005	Congenital aneurysm of cerebral artery
783630000	Congenital aneurysm of precerebral artery
783697000	X-linked spastic paraplegia type 16
783698005	Autosomal dominant spastic paraplegia type 13
783700001	Syndactyly, polydactyly, ear lobe syndrome
783701002	Port-wine nevi, mega cisterna magna, hydrocephalus syndrome
783702009	X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations
783703004	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
783717008	Phosphoglucomutase 1-related congenital disorder of glycosylation
783718003	Paternal uniparental disomy of chromosome X
78372005	Intrahepatic gallbladder
783723003	Mixed sclerosing bone dystrophy with extra-skeletal manifestation
783734000	Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency
783735004	Maternal uniparental disomy of chromosome X
783737007	Hirschsprung disease, ganglioneuroblastoma syndrome
783738002	Heart defect, tongue hamartoma, polysyndactyly syndrome
783740007	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency
783741006	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
783742004	Conductive hearing loss, malformation of external ear syndrome
783764008	Autosomal recessive spastic paraplegia type 56
783766005	Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene
783767001	Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency
783768006	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
783773000	Congenital abnormal number of ostium of coronary artery
783774006	External auditory canal atresia, vertical talus, hypertelorism syndrome
783789002	Autosomal recessive brachyolmia
78393008	Congenital hypoplasia of finger
784006008	Spondylometaphyseal dysplasia
784010006	Otopalatodigital syndrome spectrum disorder
784344009	Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation
784346006	Navajo neurohepatopathy
784348007	Familial congenital mirror movements
784349004	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
784350004	Craniorhiny
784351000	Antecubital pterygium syndrome
784353002	Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome
784370005	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
784381008	Autosomal recessive cutis laxa type 2A
78485007	Acyanotic congenital heart disease
78494001	Amelogenesis imperfecta
78495000	Cleft leaflet of mitral valve
785298001	Muscle eye brain disease with bilateral multicystic leukodystrophy
785299009	Cobblestone lissencephaly without muscular or ocular involvement
785303004	Multiple congenital anomalies, hypotonia, seizures syndrome
785304005	Autosomal recessive spastic paraplegia type 24
785305006	Autosomal dominant spastic paraplegia type 8
785306007	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
785307003	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A
78560000	Accessory hepatic duct
78572006	Neurocutaneous syndrome
785722006	Obesity due to leptin receptor gene deficiency
785808002	Aneurysm osteoarthritis syndrome
78586005	gamma-Glutamyltransferase deficiency
786039009	Arthrogryposis and ectodermal dysplasia syndrome
786041005	Congenital systemic arteriovenous fistula
786076007	Congenital pit of optic disc
78626001	Congenital anomaly of trunk
78642008	Ocular albinism, type I
78675000	Stickler syndrome
78693004	Congenital hypoplasia of part of brain
787037000	Congenital muscular dystrophy type 1A
787093004	Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency
787094005	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
787171006	21q22.11q22.12 microdeletion syndrome
78728005	Gastrothoracopagus
78740005	Complete monosomy 21 syndrome
787407003	Muenke syndrome
787408008	Osteopathia striata, pigmentary dermopathy, white forelock syndrome
787411009	Monosomy 22
787412002	Short chain acyl-coenzyme A dehydrogenase deficiency
787413007	Bifid nose
787414001	Oligodontia
787472005	Congenital rhabdomyomatous mesenchymal hamartoma
78753008	Globulo-maxillary cyst
787730008	Congenital hydrocele of canal of Nuck
78784005	Amyelia
788292004	Congenital lymphangiectasia
788294003	Congenital cutaneous lymphangiectasia
788295002	Congenital lymphangiectasia with chylous reflux
788417006	Alopecia, epilepsy, intellectual disability syndrome Moynahan type
788533006	Congenital abnormality of atrium
788584007	Blepharophimosis and mental retardation syndrome
788868003	Arteriovenous malformation of uterus
788869006	Atresia of esophagus co-occurrent with esophagobronchial fistula
788875002	Bilateral cleft lip and alveolus
788944005	Gamma delta beta thalassemia
78895009	Congenital pneumonia
789097007	Agenesis of artery
789120001	Neurenteric cyst
789156003	Focal facial dermal dysplasia
789157007	Focal facial dermal dysplasia type I
789159005	Focal facial dermal dysplasia type II
789160000	Focal facial dermal dysplasia type III
789161001	Focal facial dermal dysplasia type IV
789187001	X-linked acrogigantism due to Xq26 microduplication
78921008	Autosomal recessive ocular albinism
789228000	Congenital anomaly of anterior portion of neck
78960005	Pancreatic triacylglycerol lipase deficiency
789657008	ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
789674008	Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder
789675009	Complete achromatopsia
789676005	Blue cone monochromatism
789700005	Congenital racemose hemangioma of retina
789777007	Short-limb skeletal dysplasia with severe combined immunodeficiency
7903009	Hallermann-Streiff syndrome
79037006	Accessory pancreas
791000124107	2-methyl-3-hydroxybutyric aciduria
79120002	Congenital elevation of scapula
79168008	Congenital genu varum
79177001	Congenital absence of tibia
79191007	Congenital anomaly of muscle AND/OR tendon
7921007	Congenital deformity of clavicle
79214007	Bifid patella
79244005	Lumbosacral prespondylolisthesis
79261008	Van der Woude syndrome
79303006	Expanded rubella syndrome
79385002	Lowe syndrome
79410001	Congenital cataract
79439001	Congenital anomaly of aortic arch
79488001	Thyroxine plasma membrane transport defect
79510004	Congenital displacement of esophagus
79552009	Congenital duplication of liver
79592006	Beta plus thalassemia
79607001	Congenital hepatic fibrosis
7964000	Congenital listeriosis
79656000	Anomaly of chromosome pair 19
79665007	Wildervanck syndrome
79702003	Monocephalus tetrapus dibrachius
79788002	Atresia of urinary meatus
79801002	Congenital leptomeningeal angiomatosis
79855003	Congenital junctional epidermolysis bullosa
7991000119102	Congenital dilatation of aortic root
79935000	Farber's lipogranulomatosis
79969004	Congenital hallux varus
79977000	Congenital atresia of broad ligament
80281008	Cleft lip
8032007	Congenital anomaly of thyroid cartilage
80387009	Roger's disease
8041000119108	Congenital arcus juvenilis
80446009	Complete bilateral cleft lip
80533002	Uterus bicornuatus vetularum
80651009	Aicardi's syndrome
80667003	Juvenile pelvis
80700005	Floating gallbladder
80712009	Congenital spondylolysis of lumbosacral region
80734006	Marinesco-Sjögren syndrome
80773006	Escobar syndrome
80797002	Congenital stricture of vesicourethral orifice
80825009	Congenital hypoplasia of lung
80880002	Omphalomesenteric duct cyst
80908008	Ornithine carbamoyltransferase deficiency
80963002	Glucose-6-phosphate dehydrogenase deficiency class V variant anemia
81042008	Congenital anomaly of spinal cord
810491000000101	Lambdoid synostosis
81103005	Congenital atresia of vein
81107006	Congenital diverticulum of bladder
81208006	Ectrodactyly
81304006	7q partial monosomy syndrome
81307004	Ischiomelus
81336004	Congenital anomaly of abdominal wall
81438002	Anomaly of chromosome Y
81526008	Hydromeningomyelocele
81539007	Metatarsus primus varus
81577001	Congenital anomaly of inferior vena cava
81604003	Mulibrey nanism syndrome
816068000	Periventricular nodular heterotopia
81678004	Ring chromosome 4 syndrome
81771002	Opitz-Frias syndrome
81780002	Beckwith-Wiedemann syndrome
81793007	Polydactyly of fingers
81873006	Iodide peroxidase defect
818949005	Congenital absence of body of uterus
818951009	Congenital respiratory biliary fistula
818959006	Trichorhinophalangeal syndrome type 1 and 3
81896006	Dysmorphic sialidosis with renal involvement
818963004	Posterior hypospadias
81990004	Cor biloculare
819950002	Generalized glucocorticoid resistance syndrome
819953000	Glycogen storage disease due to muscle phosphorylase kinase deficiency
82003006	Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia
82007007	Thoracoparacephalus
82022002	Congenital debility of fetus
82058009	Myelocele
82062003	Congenital hydrocele
82077006	Myotubular myopathy
82203000	Treacher Collins syndrome
82236004	Familial x-linked hypophosphatemic vitamin D refractory rickets
82286005	Hyperimmunoglobulin M syndrome
822975003	Congenital arteriovenous malformation of duodenum
82317007	Chronic granulomatous disease, type III
82319005	Acyl-coenzyme A dehydrogenase deficiency
82323002	Late congenital syphilis (2 years OR more)
8234004	XY females
82342003	Yellow mutant oculocutaneous albinism
82351006	Craniotabes
82353009	Congenital infectious disease
82354003	Multiple system malformation syndrome
8239009	Primary endocardial fibroelastosis
82393007	Giant esophagus
82458004	Congenital stenosis of mitral valve
82500001	Wolman's disease
82520000	Embryonic cyst of Gartner's duct
82525005	Congenital cystic kidney disease
82635007	Accessory urethra
82642007	Segmental uterine aplasia
82663009	Osteopathia striata
82699004	Dyggve-Melchior-Clausen syndrome
827006	Late congenital syphilis, latent (positive serology - cerebrospinal fluid, 2 years OR more)
827078006	Eisenmenger ventricular septal defect
82725007	Progressive myositis ossificans
82751009	7p partial trisomy syndrome
82785005	Astragaloscaphoid synostosis
82820009	Congenital anomaly of prostate
82821008	Congenital atresia of extrahepatic bile duct
82837002	Kenny syndrome
828971000000101	Primary hyperoxaluria, type III
82949000	Congenital absence of pancreas
82959004	Dementia paralytica juvenilis
829974003	Mosaic trisomy 1 syndrome
8301004	Caudal dysplasia sequence
83015004	Saethre-Chotzen syndrome
83028006	Congenital partial absence of alimentary tract
83031000119105	Congenital malformation of nasal septum
83119008	Congenital insufficiency of tricuspid valve
83145004	Abnormal dermatoglyphic pattern
83190008	Congenital absence of adrenal gland
83228001	Congenital anomaly of spermatic cord
83330001	Patent ductus arteriosus
83470009	Ehlers-Danlos syndrome, type 1
83546008	Congenital anomaly of breast
83579008	Mixed gonadal dysgenesis
83585001	14q partial proximal trisomy syndrome
83586000	Ehlers-Danlos syndrome, dysfibronectinemic
83714006	Congenital microgastria
83721006	6p partial trisomy syndrome
83799000	Corrected transposition of great vessels
838300000	Blue sclera of bilateral eyes
838310009	Camptodactyly of bilateral toes
838313006	Camptodactyly of bilateral fingers
838325009	46 XY disorder of sex development due to maternal ingestion of estrogen
838326005	46,XX disorder of sex development due to maternal Krukenberg neoplasm
838327001	46,XX disorder of sex development due to maternal arrhenoblastoma
838328006	46,XX disorder of sex development due to maternal androluteoma
838329003	46,XX disorder of sex development due to maternal adrenal neoplasm
838333005	Atresia of mitral valve with absent atrioventricular connection
838334004	Ablepharon of bilateral eyelids
838336002	46,XY disorder of sex development due to maternal ingestion of progestogen
838339009	Basal encephalocele
838362006	Aplasia cutis congenita of limb
838368005	Congenital generalized hypertrichosis
838370001	Agenesis of bilateral lungs
838441009	Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome
840426005	Developmental anomaly of bilateral pleurae
840451006	Clinodactyly of bilateral toes
840456001	Coloboma of bilateral maculae
840458000	Coloboma of bilateral lenses
840469002	Deficient mural leaflet of left ventricular component of common atrioventricular valve
840473004	Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form
840474005	Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form
840475006	Congenital hypertrophy of lateral fold of hallux
840476007	Congenital instability of spine
840477003	Congenital hypertrophy of bilateral lower limbs
840478008	Congenital distichiasis of bilateral eyelashes
840479000	Congenital entropion of bilateral eyelids
840480002	Congenital crumpled ear
840481003	Congenital dislocation of bilateral knees
840482005	Congenital anomaly of lobe of ear
840483000	Congenital coronal cleft of vertebra
840485007	Cornea plana of bilateral corneas
840486008	Congenital retraction of bilateral eyelids
840487004	Congenital stenosis of spinal canal
840488009	Congenital regurgitation of truncal valve
840489001	Congenital opacity of bilateral corneas
840490005	Congenital refluxing megaureter
840491009	Congenital malalignment of great toenail
840492002	Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes
840493007	Congenital lobar emphysema of bilateral lungs
840494001	Congenital macrophthalmos of bilateral eyes
840495000	Common atrioventricular junction with spontaneous fibrous closure of atrioventricular septal defect
840497008	Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle
840505007	Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis
840507004	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
840508009	Congenital absence of seminal vesicle
840509001	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form
840510006	Congenital absence of epiglottis
840512003	Congenital absence of all bilateral toes
840517009	Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle
841002	Congenital absence of skull bone
84150000	Arteriovenous malformation of liver
84188003	Thalassemia syndrome
84193000	alpha, alpha-Trehalase deficiency
84296002	Congenital atresia of small intestine
84449007	Congenital accessory skin tag
84461004	Exencephaly
8447006	Congenital anomaly of skeletal bone
84557007	Bifid tongue
84589003	Pygodidymus
84598000	Polysyndactyly
84648007	Acardius
84711007	Anomaly of chromosome pair 4
84752003	Mottled teeth, congenital
84773003	Congenital anomaly of lower limb
84781002	Sporadic cretinism
84814009	Streak gonad
84873005	Dural arteriovenous malformation
84918006	Congenital absence of radius
849631000000103	Congenital absence of digestive system
849651000000105	Congenital absence of lesser toe
84974003	Congenital volvulus of stomach
85029000	Congenital anomaly of fallopian tubes
85081000	Common arterial trunk and widely separate origin of pulmonary arteries
85150007	Uterus bicameratus vetularum
852781000000103	Adult cystinosis
85280007	Congenital hammer toe
85422000	alpha^+^ Thalassemia, nondeletion type
85437001	Congenital hypoplasia of testis
85445006	Dicephalus dipus tetrabrachius
85487008	Renal phosphaturia
85557000	Hereditary persistence of fetal hemoglobin deletion type
85589009	Radial aplasia-thrombocytopenia syndrome
85630009	Craniopagus occipitalis
85641006	Hemianencephaly
8569001	Syncephalus
85700008	Microhepatia
85836000	Congenital duodenal obstruction due to annular pancreas
8587003	Congenital diverticulum of colon
85901000	Megacalycosis
859681000000101	Pansynostosis
86042009	Congenital melanosis
860820000	Hypoplasia of cranial sinus
860858001	Glycogen storage disease due to muscle pyruvate kinase deficiency
860859009	Erythropoietic protoporphyria due to ferrochelatase deficiency
860860004	Glycogen storage disease type IXB
86095007	Inborn error of metabolism
860951008	Congenital anomaly of cauda equina
8611000119100	Complex craniosynostosis
86204009	Immotile cilia syndrome
86242003	alpha^+^ Thalassemia, deletion type
86252004	Agenesis of pulmonary artery
86268005	Achondroplasia
86280002	Thoracomelus
86299006	Tetralogy of Fallot
8634009	Distichiasis-lymphedema syndrome
86345004	Bertolotti's syndrome
8641000119101	Polysplenia heterotaxy syndrome
86443005	Hutchinson's teeth
86444004	Niemann-Pick disease, type C, acute form
86463003	Solitary multilocular renal cyst
86470003	Osteogenesis imperfecta, recessive perinatal lethal
8649001	Congenital anomaly of thoracic cage
86507001	Congenital absence of gallbladder
86527000	Hypoplasia of eye
8654005	Ectodermal dysplasia
86595004	Congenital mesocolic hernia
866053004	Middle interhemispheric variant of holoprosencephaly
866088004	Microcornea of bilateral eyes
866089007	Megalocornea of bilateral eyes
86610004	Frontonasal dysplasia sequence
866118008	Left hand pattern ventricular topology
86635005	Kasabach-Merritt syndrome
86667008	Ehlers-Danlos syndrome, dominant type 4
86715000	Beta zero thalassemia
86818009	Congenital ankylosis of elbow
86859003	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia
86993003	Congenital anomaly of rectum
86997002	Ring chromosome 10 syndrome
870323006	Obstructed anomalous pulmonary venous pathway
87047005	Congenital cyst of esophagus
87074006	Salla disease
87093008	Congenital urethrorectal fistula
87119009	Congenital cystic lung
8712002	Congenital subaortic stenosis due to fibromuscular shelf
87142002	Congenital absence of appendix
871579003	Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment
871581001	Inferior muscular trabecular ventricular septal defect
871583003	Congenital anomaly of left-sided atrioventricular valve in double inlet ventricle
871585005	Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle
871588007	Innominate artery compression syndrome
871594004	Congenital stenosis of truncal valve
871596002	Residual patency of arterial duct following patent ductus arteriosus repair
871597006	Congenital dysplasia of aortic valve
871599009	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type
871600007	Outlet ventricular septal defect with posteriorly malaligned outlet septum
871601006	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type
871602004	Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum
871603009	Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect
871604003	Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum
871605002	Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction
871606001	Outlet ventricular septal defect with anteriorly malaligned outlet septum
871607005	Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and anteriorly malaligned outlet septum
871609008	Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum
871610003	Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension
871611004	Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum
871612006	Anterior muscular trabecular ventricular septal defect
871613001	Right hand pattern ventricular topology
871614007	Abnormal intrapericardial course of great arteries
871616009	Atrial situs inversus
871618005	Congenital dysplasia of truncal valve
871620008	Perimembranous inlet ventricular septal defect
871622000	Common atrioventricular valve with unbalanced commitment of valve to ventricle
871624004	Common atrioventricular valve with unbalanced commitment of valve to right ventricle
871625003	Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves
871626002	Syndactyly of toes with fusion of bones of toes of bilateral feet
871627006	Common atrium with common atrioventricular junction
871630004	Atrioventricular septal defect with ventricular imbalance
871636005	Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim
871643004	Atrioventricular septal defect with balanced ventricles
871645006	Common atrium with separate arterioventricular junctions
871647003	Common arterial trunk with pulmonary dominance
871648008	Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum
871650000	Common arterial trunk with pulmonary dominance and aortic coarctation
871652008	Mitral atresia with imperforate mitral valve
871654009	Congenital hypoplasia of anulus fibrosus of aorta
871655005	Tricuspid atresia with absent right atrioventricular connection
871658007	Muscular ventricular septal defect opening to right ventricular inlet
871659004	Double inlet to solitary ventricle of indeterminate morphology
871660009	Congenital anomaly of left ventricle
871666003	Atypical left ventricular component of common atrioventricular valve
871667007	Disorder of ascending aorta due to conotruncal malformation
871668002	Congenital right ventricular anomaly
871672003	Atypical right ventricular component of common atrioventricular valve
87181002	Hyperplasia of islet alpha cells with glucagon excess
87290003	Congenital anomaly of head
87294007	Supernumerary vertebra
87318008	Congenital syphilis with gumma
87380008	Congenital absence of vagina
87397002	von Willebrand disease, type IIA
874931001	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
87541004	Ectopic gallbladder
8757006	Hecht syndrome
876846006	Congenital absence of chordae tendineae of tricuspid valve
876847002	Congenital absence of carpal bone and metacarpal bone
876853002	Agenesis of tarsal bone and metatarsal bone
87694001	Pyruvate carboxylase deficiency
87827003	Isovaleryl-coenzyme A dehydrogenase deficiency
878878007	Congenital malformation caused by valproic acid
8793008	Rokitansky sequence
87979003	Cleft palate
879919001	Bilateral megalencephaly
879937000	Alpha-N-acetylgalactosaminidase deficiency type 1
879938005	46,XY disorder of sex development due to environmental chemical exposure
879939002	14q32 deletion syndrome
8800006	Female pseudohermaphroditism
880065001	Alpha-N-acetylgalactosaminidase deficiency type 2
880066000	Alpha-N-acetylgalactosaminidase deficiency type 3
880078001	11p15 deletion syndrome
880079009	11p15 duplication syndrome
880081006	12q15 deletion syndrome
880086001	12q24.31-q24.32 deletion syndrome
880093002	17q11 deletion syndrome
880094008	46,XY disorder of sex development
880125002	46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia
880127005	46,XX androgen-induced disorder of sex development of iatrogenic maternal origin
88035001	Congenital megalogastria
8808004	Biotinidase deficiency
88102009	Nodular renal blastema
88103004	Congenital onychauxis
88154004	Ring chromosome 18 syndrome
88244008	Congenital stenosis of vena cava
88326002	16p partial trisomy syndrome
88386004	Congenital anomaly of diaphragm
88393000	Sanfilippo syndrome
88425004	Congenital anomaly of nervous system
88445007	Anomalous muscle bands of right ventricle
88469006	Zellweger syndrome
88477005	Lateral developmental cyst of jaw
8851000	Nagele's pelvis
88540000	Factor XI deficiency, type I
8857001	Hereditary elliptocytosis due to alpha spectrin defect
88656003	Congenital absence of spermatic cord
88659005	Cheilognathoprosoposchisis
8868001	Dyshormonogenetic goiter AND iodide leak
88825008	Congenital anomaly of cervix
88854002	Congenital hypoplastic anemia
88894000	4q partial trisomy syndrome
890086003	46,XX disorder of sex development caused by synthetic oral progestogen
890087007	46,XX disorder of sex development caused by synthetic oral diethylstilbestrol
890088002	46,XX disorder of sex development caused by testosterone and testosterone derivative
890089005	46,XX testicular disorder of sex development
890099000	Atresia of ileum type I
890101007	Atresia of ileum type II
890102000	Atresia of ileum type IIIa
890103005	Atresia of jejunum type I
890104004	Atresia of jejunum type II
890105003	Atresia of jejunum type IIIa
890110004	17q23.1-q23.2 duplication syndrome
890116005	17q24-qter duplication syndrome
890117001	20p12.2 deletion syndrome
890118006	Mowat-Wilson syndrome due to monosomy 2q22
890123006	3p25.3 deletion syndrome
890124000	5q22.2 deletion syndrome
890125004	7p12-p14 deletion syndrome
890127007	7p21.1 deletion syndrome
890128002	9p24.3 deletion syndrome
890130000	9q34 deletion syndrome
890180006	Blepharophimosis epicanthus inversus ptosis syndrome plus
890190003	Brachymetatarsia of first metatarsal
890191004	Brachymetatarsia of fourth metatarsal
890201000	Congenital absence of cystic duct
890217006	Congenital anomalous arrangement of pancreatobiliary duct
890219009	Congenital anomalous tracheobronchial branching
890220003	Bicuspid aortic valve-associated aortopathy
890221004	Acrocardiofacial syndrome
890222006	Congenital complete absence of bilateral lower limbs
890223001	Congenital complete absence of bilateral upper limbs
890228005	Congenital atresia of bilateral anterior nares
890229002	Autosomal dominant polycystic liver disease
890233009	Autosomal dominant Robinow syndrome
890235002	Autosomal recessive epidermolytic ichthyosis
890237005	Autosomal recessive Robinow syndrome
890285006	Bilateral frontal polymicrogyria
890286007	Bilateral frontoparietal polymicrogyria
890287003	Bilateral generalized polymicrogyria
890288008	Bilateral parasagittal parieto-occipital polymicrogyria
890346002	Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis
890347006	Humeroradial synostosis of bilateral upper limbs
890348001	Epiblepharon of bilateral eyelids
890349009	Euryblepharon of bilateral eyelids
890350009	Coralliform cataract
890351008	Distal symphalangism of bilateral distal interphalangeal joints
890352001	Congenital valgus deformity of bilateral great toes
890353006	Congenital vertical talus deformity of bilateral ankles and feet
890354000	Congenital subglottic stenosis Cotton-Meyer grade 3
890355004	Congenital subglottic stenosis Cotton-Meyer grade 4
890356003	Postaxial polydactyly type A of bilateral little fingers
890357007	Postaxial polydactyly type B of bilateral little fingers
890359005	Postaxial polydactyly of bilateral feet
890360000	Polydactyly of bilateral thumbs
890361001	Polydactyly of bilateral triphalangeal thumbs
890362008	Partial cryptophthalmos of bilateral eyelids
890363003	Persistent hyperplastic primary vitreous of bilateral eyes
890364009	Macrodactyly of bilateral feet
890365005	Incomplete congenital pyloric antral membrane
890366006	Macrodactyly of bilateral fingers
890367002	Congenital metatarsus valgus of bilateral feet
890368007	Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
890369004	Congenital malrotation of large intestine
890370003	Congenital megacalycosis of bilateral kidneys
890372006	Congenital malformation of lymphatic system of cervicofacial region
890373001	Central polydactyly of bilateral fingers
890376009	Congenital arteriovenous fistula of umbilical blood vessels
890377000	Agenesis of umbilical cord
890378005	Congenital epibulbar choristoma of bilateral eyes
890379002	Congenital duplication of gallbladder type 2
890380004	Bilateral Madelung deformity
890381000	Congenital ectropion of bilateral eyelids
890382007	Choanal atresia of bilateral nasal passages
890383002	Congenital diverticulum of large intestine
890384008	Central polydactyly of bilateral toes
890385009	Congenital duplication of gallbladder type 1
890386005	Congenital subglottic stenosis Cotton-Meyer grade 1
890387001	Congenital subglottic stenosis Cotton-Meyer grade 2
890388006	Congenital pulmonary airway malformation type 4
890389003	Congenital stenosis of the tracheobronchial tree
890390007	Congenital pulmonary airway malformation type 2
890391006	Congenital pulmonary airway malformation type 3
890392004	Congenital pulmonary airway malformation type 1
890393009	Congenital prolapse of mitral valve
890394003	Congenital pulmonary airway malformation type 0
890395002	Congenital muscular dystrophy type 1D large gene mutation
890396001	Congenital pit of bilateral optic discs
890397005	Congenital bowing of ulna
890398000	Congenital bronchocele
890399008	Congenital anomaly of patella
890400001	Congenital absence of bilateral breasts
890401002	Congenital absence of bilateral lower legs and feet
890402009	Congenital abnormality of truncal valve
890403004	Congenital absence of bilateral forearms and hands
890404005	Complete phocomelia of bilateral lower limbs
890405006	Complete phocomelia of bilateral upper limbs
890406007	Complete cryptophthalmos
890408008	Congenital diverticulum of gallbladder
890409000	Congenital dislocation of bilateral shoulders
890410005	Congenital dislocation of joint
890411009	Congenital dislocation of bilateral patellas
890412002	Congenital dacryocele of bilateral lacrimal sacs
890413007	Congenital dislocation of bilateral elbows
890414001	Congenital cryptophthalmos of bilateral eyelids
890415000	Congenital cyst of vitreous body
890416004	Congenital clinodactyly of bilateral fingers
890417008	Congenital coloboma of bilateral eyelids
890419006	Syndactyly with fusion of bones of bilateral fingers
890422008	Cervicothoracic spina bifida aperta with hydrocephalus
890424009	Secondary congenital hyperplasia of bilateral lungs
890425005	Proximal symphalangism of bilateral fingers
890427002	Primary congenital hyperplasia of bilateral lungs
890428007	Primary congenital hypoplasia of bilateral lungs
890429004	Preaxial polydactyly of bilateral great toes
890430009	Complete agenesis of vermis
890432001	Cockayne syndrome type 3
890433006	Cockayne syndrome type 1
890434000	Cockayne syndrome type 2
890435004	Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase
890436003	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
890437007	Chondrodysplasia punctata due to maternal autoimmune disease
890438002	Brachydactyly type A3
890439005	Brachydactyly type D
890460004	46,XX disorder of sex development
890461000	Congenital symblepharon of bilateral conjunctivae
8915006	Congenital hypoplasia of breast
89166001	Congenital anomaly of liver
89199004	Congenital web of esophagus
89243009	Polymelia
89318001	Congenital prolapsed uterus
8933000	Crigler-Najjar syndrome, type I
89369001	Anencephalus
89378007	Congenital displacement of stomach
89392001	Prader-Willi syndrome
89409002	Gastrothoracopagus dipygus
894093007	Complete congenital web of pyloric antrum
894125007	Cervicothoracic spina bifida aperta
89434002	Complete aphalangia of lower limb
89444000	Oromandibular-limb hypogenesis spectrum
89454001	Shwachman syndrome
89459006	Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster
89497006	Persistent human tail
89579000	Tetrahydrofolate methyltransferase deficiency
89597008	Glycogen storage disease, type VII
8962004	Katadidymus
89647000	Pyknodysostosis
89655007	Congenital neutropenia
896774004	Cribriform hymen
89689008	Congenital genu valgum
896999006	Congenital agenesis of vagina
897277000	Congenital epignathus
897279002	Fetal epignathus with conjoined twins
897507003	Distal trisomy 9p
897509000	Distal trisomy 8p
897510005	Distal trisomy 3q
897511009	Distal trisomy 7q
897523003	Triphalangeal deformity of bilateral thumbs
897524009	Distal deletion of short arm of chromosome 1
897526006	Distal deletion of long arm of chromosome 8
897527002	Distal deletion of long arm of chromosome 9
897528007	Distal deletion of long arm of chromosome 6
897529004	Distal deletion of long arm of chromosome 7
897530009	Congenital ankylosis of incudomallear articulation
897531008	Congenital absence of bilateral ulnas
897532001	Congenital absence of bilateral tibias
897533006	Congenital absence of bilateral radiuses
897534000	Calcification of umbilical cord
897536003	Distal deletion of long arm of chromosome 3
897537007	Congenital anomaly of internal auditory canal
897539005	Congenital anomaly of cochlea
897541006	Congenital anomaly of biliary tract
897542004	Distal deletion of long arm of chromosome 2
897543009	Distal trisomy 1p
897544003	Distal trisomy 1q
897545002	Distal duplication of chromosome 21
897546001	Distal trisomy 12q
897547005	Distal duplication of chromosome 14
897548000	Distal duplication of chromosome 15
897549008	Distal duplication of chromosome 13
897554004	Dermal melanocytic hamartoma
897557006	Congenital shortening of ear
897558001	Congenital small melanocytic nevus
897559009	Congenital retinal dysplasia caused by teratogenic substance
897560004	Congenital sagittal cleft of vertebra
897561000	Distal deletion of long arm of chromosome 16
897564008	Distal deletion of long arm of chromosome 12
897566005	Distal deletion of chromosome 21
897568006	Distal deletion of chromosome 14
897569003	Distal deletion of chromosome 15
897570002	Distal arthrogryposis type 3
897572005	Congenital anomaly of semicircular canal
897573000	Talipes calcaneovarus of bilateral ankles and feet
897574006	Congenital anomaly of vestibule of inner ear
897575007	Talipes equinovarus of bilateral ankles and feet
897576008	Spherophakia of bilateral lenses
897577004	Symbrachydactyly of bilateral hands and feet
897579001	Simple syndactyly of toes of second web space of bilateral feet
897585008	Congenital primary glaucoma of bilateral eyes
897586009	Congenital radial deviation of bilateral fingers
897587000	Congenital primary aphakia of bilateral lenses
897588005	Congenital hypertrophy of bilateral upper limbs
897589002	Congenital partial absence of gastric muscle
897590006	Congenital dysplasia of bone caused by drug
897591005	Congenital dysplasia of vestibule of ear
897592003	Congenital disorder of glycosylation type 1i
897593008	Congenital disruption of omphalomesenteric artery
897594002	Congenital anorectal fistula due to high anorectal malformation
897595001	Congenital anorectal fistula due to low anorectal malformation
898041000000102	Congenital cholestatic syndrome
89810003	^A^gamma delta beta^0^ thalassemia
89859004	Monostotic fibrous dysplasia
8986002	Transposition of colon
89886004	Congenital anomaly of skeletal muscle
89954008	Ectopic pancreatic tissue in stomach
89988002	Radicular cyst
90145001	Frontal bossing
90313000	Autositic twin of asymmetrical conjoined twins
90383006	Congenital absence of aorta
90496008	Generalized epidermolysis bullosa simplex
90500005	Carnitine palmitoyltransferase deficiency
90516007	Naso-labial cyst
90575004	Persistent lanugo
90669003	Congenital diverticulum of stomach
90693008	Congenital asymmetry of jaw
90866007	3q partial trisomy syndrome
90996003	Cordate pelvis
91064002	Warburg syndrome
91158006	Congenital anomaly of eyelid
91210006	Congenital anourethral fistula
91285009	Ectopic adrenal cortex
91304009	Capillary fragility abnormality
91375006	Congenital atresia of rectum
91443007	Accessory bronchus
9147009	Osteopoikilosis
91576008	Congenital herpes simplex
91605000	Congenital absence of artery
91634006	Fused commissures of mitral valve
91841003	Abnormal communication between pericardial sac and peritoneal cavity
91842005	Abnormal lung lobation
91844006	Supernumerary gallbladder
91845007	Accessory gonad
91846008	Supernumerary metacarpal bone
91847004	Accessory sternebral ossification site
91848009	Acephaly
91868003	Congenital absence of stomach
91869006	Congenital absence of alisphenoid bone
91870007	Congenital absence of basioccipital bone
91871006	Congenital absence of basisphenoid bone
91872004	Congenital absence of calcaneus
91873009	Congenital absence of carpal bone
91877005	Congenital absence of centrum of cervical vertebra
91878000	Congenital absence of centrum of sacral vertebra
91879008	Congenital absence of arch of cervical vertebra
91880006	Congenital absence of cervical vertebra
91882003	Congenital absence of epididymis
91883008	Congenital absence of exoccipital bone
91885001	Congenital absence of frontal bone
91887009	Congenital absence of hyoid bone
91888004	Congenital absence of ilium
91889007	Congenital absence of interparietal bone
91890003	Congenital absence of intestinal tract
91891004	Congenital absence of ischium
91892006	Congenital absence of lacrimal bone
91893001	Congenital absence of arch of lumbar vertebra
91894007	Congenital absence of centrum of lumbar vertebra
91895008	Congenital absence of lumbar vertebra
91896009	Congenital absence of mandible
91897000	Congenital absence of maxilla
91898005	Congenital absence of metacarpal bone
91899002	Congenital absence of metatarsal bone
91900007	Congenital absence of nasal bone
91901006	Congenital absence of palatine bone
91902004	Congenital absence of parietal bone
91903009	Congenital absence of premaxilla
91904003	Congenital absence of presphenoid bone
91905002	Congenital absence of pubis
91906001	Congenital absence of arch of sacral vertebra
91907005	Congenital absence of sacral vertebra
91908000	Congenital absence of scapula
91909008	Congenital absence of squamosal bone
91910003	Congenital absence of sternebra
91911004	Congenital absence of supraoccipital bone
91913001	Congenital absence of talus
91914007	Congenital absence of tarsal bone
91915008	Congenital absence of arch of thoracic vertebra
91916009	Congenital absence of centrum of thoracic vertebra
91917000	Congenital absence of thoracic vertebra
91918005	Congenital absence of thymus
91919002	Congenital absence of tympanic anulus
91920008	Congenital absence of vomer
91921007	Congenital absence of zygomatic bone
91922000	Congenital absence of jaw
91946007	Congenital absence of mouth
92082002	Benign neoplasm of ectopic male breast tissue
9245008	Dentigerous cyst
92489003	Cleft cartilaginous centrum of cervical vertebra
92490007	Cleft cartilaginous centrum of lumbar vertebra
92491006	Cleft cartilaginous centrum of sacral vertebra
92492004	Cleft cartilaginous centrum of thoracic vertebra
92494003	Bipartite ossification of centrum of cervical vertebra
92495002	Bipartite ossification of interparietal bone
92496001	Bipartite ossification of centrum of lumbar vertebra
92497005	Bipartite ossification of centrum of sacral vertebra
92498000	Bipartite ossification of sternebra
92499008	Bipartite ossification of supraoccipital bone
92500004	Bipartite ossification of centrum of thoracic vertebra
92501000	Congenital cleft of thymus
92503002	Neurofibromatosis type 2
9252005	Congenital bowing of tibia and/or fibula
92806000	Cervical hemivertebra
92822004	Cleft mandible
92824003	Neurofibromatosis type 1
92830003	Combined valvular-subvalvular pulmonic stenosis
92833001	Congenital abnormal fusion of adrenal glands
92834007	Congenital abnormal fusion of alisphenoid bone
92836009	Congenital abnormal fusion of arch of cervical vertebra
92837000	Congenital abnormal fusion of arch of lumbar vertebra
92838005	Congenital abnormal fusion of arch of sacral vertebra
92839002	Congenital abnormal fusion of arch of thoracic vertebra
92840000	Congenital abnormal fusion of basioccipital bone
92841001	Congenital abnormal fusion of basisphenoid bone
92842008	Congenital abnormal fusion of calcaneus
92843003	Congenital abnormal fusion of carpal bone
92844009	Congenital abnormal fusion of centrum cartilage of cervical vertebra
92845005	Congenital abnormal fusion of centrum cartilage of lumbar vertebra
92846006	Congenital abnormal fusion of centrum cartilage of sacral vertebra
92847002	Congenital abnormal fusion of centrum cartilage of thoracic vertebra
92849004	Congenital abnormal fusion of centrum of cervical vertebra
92850004	Congenital abnormal fusion of centrum of lumbar vertebra
92851000	Congenital abnormal fusion of centrum of sacral vertebra
92852007	Congenital abnormal fusion of centrum of thoracic vertebra
92853002	Congenital abnormal fusion of exoccipital bone
92854008	Congenital abnormal fusion of femur
92855009	Congenital abnormal fusion of fibula
92857001	Congenital abnormal fusion of frontal bone
92859003	Congenital abnormal fusion of humerus
92860008	Congenital abnormal fusion of ilium
92861007	Congenital abnormal fusion of interparietal bone
92862000	Congenital abnormal fusion of ischium
92863005	Congenital abnormal fusion of lacrimal bone
92864004	Congenital abnormal fusion of liver lobes
92865003	Congenital abnormal fusion of mandible
92866002	Congenital abnormal fusion of maxilla
92867006	Congenital abnormal fusion of metacarpal bone
92868001	Congenital abnormal fusion of metatarsal bone
92869009	Congenital abnormal fusion of nasal bone
92870005	Congenital abnormal fusion of palatine bone
92871009	Congenital abnormal fusion of parietal bone
92872002	Congenital abnormal fusion of premaxilla
92873007	Congenital abnormal fusion of presphenoid bone
92874001	Congenital abnormal fusion of radius
92875000	Congenital abnormal fusion of rib cartilage
92876004	Congenital abnormal fusion of squamosal bone
92877008	Congenital abnormal fusion of supraoccipital bone
92878003	Congenital abnormal fusion of talus
92879006	Congenital abnormal fusion of tarsal bone
92880009	Congenital abnormal fusion of tibia
92881008	Congenital abnormal fusion of tympanic anulus
92882001	Congenital abnormal fusion of ulna
92883006	Congenital abnormal fusion of vomer
92884000	Congenital abnormal fusion of zygomatic bone
92885004	Congenital abnormal long growth of bile duct
92886003	Congenital abnormal shape of adrenal gland
92887007	Congenital abnormal shape of alisphenoid bone
92888002	Congenital abnormal shape of aortic valve
92890001	Congenital abnormal shape of arch of cervical vertebra
92891002	Congenital abnormal shape of arch of lumbar vertebra
92892009	Congenital abnormal shape of arch of sacral vertebra
92893004	Congenital abnormal shape of arch of thoracic vertebra
92894005	Congenital abnormal shape of auditory ossicles
92895006	Congenital abnormal shape of basioccipital bone
92896007	Congenital abnormal shape of basisphenoid bone
92897003	Congenital abnormal shape of calcaneus
92898008	Congenital abnormal shape of carpal bone
92900005	Congenital abnormal shape of centrum of cervical vertebra
92901009	Congenital abnormal shape of centrum of lumbar vertebra
92902002	Congenital abnormal shape of centrum of sacral vertebra
92903007	Congenital abnormal shape of centrum of thoracic vertebra
92904001	Congenital abnormal shape of cerebellum
92905000	Congenital abnormal shape of cerebrum
92906004	Congenital abnormal shape of clavicle
92907008	Congenital abnormal shape of digit
92908003	Congenital abnormal shape of exoccipital bone
92909006	Congenital abnormal shape of femur
92910001	Congenital abnormal shape of fibula
92912009	Congenital abnormal shape of frontal bone
92913004	Congenital abnormal shape of gallbladder
92915006	Congenital abnormal shape of humerus
92916007	Congenital abnormal shape of hyoid bone
92917003	Congenital abnormal shape of ilium
92918008	Congenital abnormal shape of inner ear
92919000	Congenital abnormal shape of interparietal bone
92920006	Congenital abnormal shape of ischium
92921005	Congenital abnormal shape of kidney
92922003	Congenital abnormal shape of lacrimal bone
92923008	Congenital abnormal shape of mitral valve
92924002	Congenital abnormal shape of liver
92925001	Congenital abnormal shape of lung
92926000	Congenital abnormal shape of mandible
92927009	Congenital abnormal shape of maxilla
92928004	Congenital abnormal shape of metacarpal bone
92929007	Congenital abnormal shape of metatarsal bone
92930002	Congenital abnormal shape of nasal bone
92932005	Congenital abnormal shape of ovary
92933000	Congenital abnormal shape of fallopian tube
92934006	Congenital abnormal shape of palate rugae
92935007	Congenital abnormal shape of palatine bone
92936008	Congenital abnormal shape of parietal bone
92937004	Congenital abnormal shape of pinna
92938009	Congenital abnormal shape of premaxilla
92939001	Congenital abnormal shape of presphenoid bone
92940004	Congenital abnormal shape of pubis
92941000	Congenital abnormal shape of pulmonary valve
92942007	Congenital abnormal shape of radius
92943002	Congenital abnormal shape of rib
92944008	Congenital abnormal shape of tricuspid valve
92945009	Congenital abnormal shape of scapula
92946005	Congenital abnormal shape of spleen
92947001	Congenital abnormal shape of squamosal bone
92948006	Congenital abnormal shape of sternebra
92949003	Congenital abnormal shape of supraoccipital bone
92950003	Congenital abnormal shape of talus
92951004	Congenital abnormal shape of tarsal bone
92952006	Congenital abnormal shape of testis
92953001	Congenital abnormal shape of thymus
92954007	Congenital abnormal shape of tibia
92955008	Congenital abnormal shape of tympanic anulus
92956009	Congenital abnormal shape of ulna
92957000	Congenital abnormal shape of uterus
92958005	Congenital abnormal shape of vomer
92959002	Congenital abnormal shape of zygomatic bone
92960007	Congenital absence of aortic valve
92961006	Congenital absence of azygos vein
92962004	Congenital absence of carotid artery
92963009	Congenital absence of chordae tendineae
92964003	Agenesis of clavicle
92965002	Congenital absence of ductus arteriosus
92966001	Congenital absence of eye bulge
92967005	Congenital absence of genital tubercle
92968000	Congenital absence of gonads
92969008	Congenital absence of mitral valve
92970009	Congenital absence of nasal turbinate
9297001	Uterus bicornis affecting pregnancy
92971008	Congenital absence of nasal septum
92972001	Monophthalmos
92973006	Congenital absence of oviduct
92974000	Congenital absence of papillary muscle
92975004	Congenital absence of renal papilla
92976003	Congenital absence of tricuspid valve
92977007	Congenital absence of subclavian artery
92978002	Congenital absence of thyroid gland
92980008	Congenital fenestration of alisphenoid bone
92981007	Congenital bent clavicle
92982000	Congenital bent humerus
92983005	Congenital bent hyoid bone
92984004	Congenital bent ilium
92985003	Congenital bent ischium
92986002	Congenital bent pubis
92987006	Congenital bent radius
92988001	Congenital bent rib
92989009	Congenital bent scapula
92991001	Congenital bent ulna
92992008	Congenital anomaly of alisphenoid bone
92994009	Congenital anomaly of azygos vein
92995005	Congenital anomaly of basioccipital bone
92996006	Congenital anomaly of basisphenoid bone
92997002	Congenital anomaly of carotid artery
92998007	Congenital anomaly of caudal vertebra
92999004	Congenital anomaly of cervical vertebra
93001004	Congenital anomaly of epididymis
93002006	Congenital anomaly of exoccipital bone
93003001	Congenital anomaly of fetal head bones
93004007	Congenital anomaly of frontal bone
93005008	Congenital anomaly of hyoid bone
93006009	Congenital anomaly of ilium
93007000	Congenital anomaly of interparietal bone
93008005	Congenital anomaly of ischium
93009002	Congenital anomaly of lacrimal bone
93010007	Congenital anomaly of lumbar vertebra
93011006	Congenital anomaly of nasal bone
93012004	Congenital anomaly of nasal turbinate
93014003	Congenital anomaly of palatine bone
93015002	Congenital anomaly of parietal bone
93017005	Congenital anomaly of pelvic bones
93018000	Congenital anomaly of pericardium
93019008	Congenital anomaly of premaxilla
93020002	Congenital anomaly of presphenoid bone
93021003	Congenital anomaly of pubis
93022005	Congenital anomaly of rib cartilage
93023000	Congenital anomaly of sacral vertebra
93024006	Congenital anomaly of squamosal bone
93025007	Congenital anomaly of sternebra
93026008	Congenital anomaly of supraoccipital bone
93027004	Congenital anomaly of thoracic vertebra
93028009	Congenital anomaly of vomer
93029001	Congenital anomaly of zygomatic bone
93030006	Congenital absence of spleen
93031005	Congenital atresia of inferior vena cava
93032003	Congenital atresia of intestinal tract
93033008	Congenital atresia of superior vena cava
93034002	Congenital atresia of uterus
93035001	Congenital fenestration of basioccipital bone
93036000	Congenital fenestration of basisphenoid bone
93037009	Congenital branched rib
93038004	Congenital branched rib cartilage
93039007	Congenital bilobed gallbladder
93040009	Congenital blepharophimosis
93044000	Congenital convoluted ureter
93046003	Congenital cyst of bladder
93049005	Congenital cyst of spleen
93050005	Congenital dilatation of aortic arch
93051009	Congenital dilatation of atrium
93052002	Congenital dilatation of bladder
93053007	Congenital dilatation of cardiac ventricle
93054001	Congenital dilatation of carotid artery
93055000	Congenital dilatation of ductus arteriosus
93056004	Congenital dilatation of inferior vena cava
93057008	Congenital dilatation of innominate artery
93058003	Congenital dilatation of intestinal tract
93059006	Congenital dilatation of pulmonary artery
93060001	Congenital dilatation of stomach
93061002	Congenital dilatation of subclavian artery
93062009	Congenital dilatation of superior vena cava
93063004	Congenital diverticulum of intestinal tract
93064005	Congenital duplication of aorta
93066007	Congenital downward displacement of stomach
93067003	Congenital elongation of innominate artery
93068008	Congenital hypertrophy of adrenal gland
93069000	Congenital hypertrophy of aortic valve
93070004	Congenital enlargement of fontanel
93071000	Congenital hypertrophy of lung
93072007	Congenital hypertrophy of nasal cavity
93073002	Congenital hypertrophy of ovary
93074008	Congenital hypertrophy of fallopian tube
93075009	Congenital hypertrophy of pulmonary valve
93076005	Congenital hypertrophy of tricuspid valve
93077001	Congenital hypertrophy of testis
93078006	Congenital hypertrophy of cardiac ventricle
93080000	Congenital fenestration of exoccipital bone
93081001	Congenital exophthalmos
93082008	Congenital fenestration of frontal bone
93083003	Congenital fenestration of interparietal bone
93084009	Congenital fenestration of nasal bone
93085005	Congenital fenestration of parietal bone
93086006	Congenital fenestration of premaxilla
93087002	Congenital fenestration of presphenoid bone
93088007	Congenital fenestration of squamosal bone
93089004	Congenital fenestration of supraoccipital bone
93091007	Congenital fistula of intestinal tract
93093005	Congenital focal enlargement of rib
93095003	Congenital hyperextension of limb
93096002	Lack of ossification of fibula
93098001	Lack of ossification of frontal bone
93100001	Lack of ossification of humerus
93101002	Lack of ossification of hyoid bone
93102009	Lack of ossification of ilium
93103004	Lack of ossification of interparietal bone
93104005	Lack of ossification of ischium
93105006	Lack of ossification of lacrimal bone
93106007	Lack of ossification of mandible
93107003	Lack of ossification of maxilla
93108008	Lack of ossification of metacarpal bone
93109000	Lack of ossification of metatarsal bone
93110005	Lack of ossification of nasal bone
9311003	Hermansky-Pudlak syndrome
93111009	Lack of ossification of palatine bone
93112002	Lack of ossification of parietal bone
93113007	Lack of ossification of premaxilla
93114001	Lack of ossification of presphenoid bone
93115000	Lack of ossification of pubis
93116004	Lack of ossification of radius
93117008	Lack of ossification of rib
93118003	Lack of ossification of scapula
93119006	Lack of ossification of squamosal bone
93120000	Lack of ossification of sternebra
93121001	Lack of ossification of supraoccipital bone
93122008	Lack of ossification of talus
93123003	Lack of ossification of tarsal bone
93124009	Lack of ossification of tibia
93125005	Lack of ossification of tympanic anulus
93126006	Lack of ossification of ulna
93127002	Lack of ossification of vomer
93128007	Lack of ossification of zygomatic bone
93131008	Leptocephaly
93132001	Lethal Kniest-like syndrome
93167001	Lumbar hemivertebra
93180003	Macromelia
93181004	Macrophthalmos
93232005	Congenital hyperflexion of limb
93234006	Congenital hypertrophy of mitral valve
93235007	Congenital hypoplasia of adrenal gland
93236008	Congenital hypoplasia of alisphenoid bone
93237004	Congenital hypoplasia of aortic valve
93239001	Congenital hypoplasia of arch of cervical vertebra
93240004	Congenital hypoplasia of arch of lumbar vertebra
93241000	Congenital hypoplasia of arch of sacral vertebra
93242007	Congenital hypoplasia of arch of thoracic vertebra
93243002	Congenital hypoplasia of basioccipital bone
93244008	Congenital hypoplasia of basisphenoid bone
93245009	Congenital hypoplasia of bladder
93246005	Congenital hypoplasia of calcaneus
93247001	Congenital hypoplasia of cardiac ventricle
93248006	Congenital hypoplasia of carpal bone
93249003	Congenital hypoplasia of cerebrum
93250003	Congenital hypoplasia of clavicle
93252006	Congenital hypoplasia of epididymis
93253001	Congenital hypoplasia of exoccipital bone
93254007	Congenital hypoplasia of eye bulge
93255008	Congenital hypoplasia of femur
93256009	Congenital hypoplasia of fibula
93258005	Congenital hypoplasia of frontal bone
93259002	Congenital hypoplasia of gallbladder
93260007	Congenital hypoplasia of genital tubercle
93261006	Congenital hypoplasia of gonad
93262004	Congenital hypoplasia of heart
93264003	Congenital hypoplasia of humerus
93265002	Congenital hypoplasia of hyoid bone
93266001	Congenital hypoplasia of ilium
93267005	Congenital hypoplasia of interparietal bone
93268000	Congenital hypoplasia of intestinal tract
93269008	Congenital hypoplasia of ischium
93270009	Congenital hypoplasia of lacrimal bone
93271008	Congenital hypoplasia of mitral valve
93272001	Congenital hypoplasia of metacarpal bone
93273006	Congenital hypoplasia of metatarsal bone
93274000	Congenital hypoplasia of nasal bone
93275004	Congenital hypoplasia of nasal cavity
93276003	Congenital hypoplasia of nasal turbinate
93277007	Congenital hypoplasia of nasal septum
93278002	Congenital hypoplasia of nose
93279005	Congenital hypoplasia of ovary
93280008	Congenital hypoplasia of fallopian tube
93281007	Congenital hypoplasia of palatine bone
93282000	Congenital hypoplasia of parietal bone
93284004	Congenital hypoplasia of premaxilla
93285003	Congenital hypoplasia of presphenoid bone
93286002	Congenital hypoplasia of pubis
93287006	Congenital hypoplasia of pulmonary valve
93288001	Congenital hypoplasia of radius
93290000	Congenital hypoplasia of renal pelvis
93291001	Congenital hypoplasia of rib
93292008	Congenital hypoplasia of spleen
93293003	Congenital hypoplasia of squamosal bone
93294009	Congenital hypoplasia of supraoccipital bone
93295005	Congenital hypoplasia of talus
93296006	Congenital hypoplasia of tarsal bone
93297002	Congenital hypoplasia of thymus
93298007	Congenital hypoplasia of tibia
93299004	Congenital hypoplasia of tympanic anulus
93300007	Congenital hypoplasia of ulna
93301006	Congenital hypoplasia of vas deferens
93302004	Congenital hypoplasia of vomer
93303009	Congenital hypoplasia of zygomatic bone
93304003	Congenital malposition of adrenal gland
93305002	Congenital malposition of aorta
93307005	Congenital malposition of arch of cervical vertebra
93308000	Congenital malposition of arch of lumbar vertebra
93309008	Congenital malposition of arch of sacral vertebra
93310003	Congenital malposition of arch of thoracic vertebra
93311004	Congenital malposition of calcaneus
93312006	Congenital malposition of carotid artery
93313001	Congenital malposition of carpal bone
93315008	Congenital malposition of cervical vertebra
93317000	Congenital malposition of digit
93318005	Congenital malposition of ductus arteriosus
93319002	Congenital malposition of epididymis
93320008	Congenital malposition of eye
93321007	Congenital malposition of femur
93322000	Congenital malposition of fibula
93324004	Congenital malposition of gallbladder
93326002	Congenital malposition of humerus
93327006	Congenital malposition of ilium
93328001	Congenital malposition of inferior vena cava
93329009	Congenital malposition of innominate artery
93330004	Congenital malposition of intestinal tract
93331000	Congenital malposition of ischium
93332007	Congenital malposition of liver
93333002	Congenital malposition of lumbar vertebra
93334008	Congenital malposition of lung
93335009	Congenital malposition of metacarpal bone
93336005	Congenital malposition of metatarsal bone
93337001	Congenital malposition of nares
93338006	Congenital malposition of nasal turbinate
93339003	Congenital malposition of nasal septum
93340001	Congenital malposition of nose
93341002	Congenital malposition of ovary
93342009	Congenital malposition of fallopian tube
93343004	Congenital malposition of palate rugae
93345006	Congenital malposition of pinna
93346007	Congenital malposition of pubis
93347003	Congenital malposition of pulmonary artery
93348008	Congenital malposition of radius
93349000	Congenital malposition of rib
93350000	Congenital malposition of sacral vertebra
93351001	Congenital malposition of spleen
93352008	Congenital malposition of sternebra
93353003	Congenital malposition of subclavian artery
93354009	Congenital malposition of superior vena cava
93356006	Congenital malposition of talus
93357002	Congenital malposition of tarsal bone
93358007	Congenital malposition of testis
93359004	Congenital malposition of the thyroid gland
93360009	Congenital malposition of thoracic vertebra
93361008	Congenital malposition of thymus
93362001	Congenital malposition of tibia
93363006	Congenital malposition of trachea
93364000	Congenital malposition of ulna
93365004	Congenital malposition of vas deferens
93367007	Congenital malrotation of limb
93369005	Congenital microhepatia
93372003	Congenital misalignment of arch of cervical vertebra
93373008	Congenital misalignment of centrum of cervical vertebra
93374002	Congenital misalignment of arch of lumbar vertebra
93375001	Congenital misalignment of centrum of lumbar vertebra
93376000	Congenital misalignment of palate rugae
93377009	Congenital misalignment of pubis
93378004	Congenital misalignment of rib
93379007	Congenital misalignment of arch of sacral vertebra
93380005	Congenital misalignment of centrum of sacral vertebra
93381009	Congenital misalignment of sternebra
93382002	Congenital misalignment of arch of thoracic vertebra
93383007	Congenital misalignment of centrum of thoracic vertebra
93384001	Congenital stenosis of aortic arch
93385000	Congenital stenosis of innominate artery
93386004	Congenital stenosis of intestinal tract
93387008	Congenital stenosis of stomach
93388003	Congenital stenosis of subclavian artery
93390002	Congenital ocular coloboma
93391003	Congenital protrusion of tongue
93392005	Congenital short growth of innominate artery
93394006	Congenital short trunk
93395007	Congenital small anus
93396008	Congenital stenosis of carotid artery
93397004	Congenital thickening of clavicle
93398009	Congenital thickening of femur
93399001	Congenital thickening of fibula
934007	Thalassemia intermedia
93402000	Congenital thickening of humerus
93403005	Congenital thickening of ilium
93404004	Congenital thickening of ischium
93405003	Congenital thickening of pubis
93406002	Congenital thickening of radius
93407006	Congenital thickening of rib
93408001	Congenital thickening of scapula
93409009	Congenital thickening of talus
93410004	Congenital thickening of tarsal bone
93411000	Congenital thickening of tibia
93412007	Congenital thickening of ulna
93413002	Thoracoceloschisis
93414008	Congenital thoracostenosis
93415009	Congenital transposition of azygos vein
93421008	Decreased anogenital distance
93429005	Discontinuous rib
93430000	Domed head
93437002	Dumbbell ossification of centrum of cervical vertebra
93438007	Dumbbell ossification of centrum of lumbar vertebra
93439004	Dumbbell ossification of centrum of sacral vertebra
93440002	Dumbbell ossification of centrum of thoracic vertebra
93441003	Dumbbell-shaped cartilaginous centrum of cervical vertebra
93442005	Dumbbell-shaped cartilaginous centrum of lumbar vertebra
93443000	Dumbbell-shaped cartilaginous centrum of sacral vertebra
93444006	Dumbbell-shaped cartilaginous centrum of thoracic vertebra
93452009	Extracapsular adrenal tissue
93460005	Full supernumerary rib
93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
93480006	Hemicentric cervical centrum
93481005	Hemicentric lumbar centrum
93482003	Hemicentric sacral centrum
93483008	Hemicentric thoracic centrum
93556005	Hologastroschisis
93557001	Holorachischisis
93559003	Hypogonadism with anosmia
93562000	Incomplete ossification of alisphenoid bone
93564004	Incomplete ossification of arch of cervical vertebra
93565003	Incomplete ossification of arch of lumbar vertebra
93566002	Incomplete ossification of arch of sacral vertebra
93567006	Incomplete ossification of arch of thoracic vertebra
93568001	Incomplete ossification of basioccipital bone
93569009	Incomplete ossification of basisphenoid bone
93570005	Incomplete ossification of calcaneus
93571009	Incomplete ossification of carpal bone
93573007	Incomplete ossification of centrum of cervical vertebra
93574001	Incomplete ossification of centrum of lumbar vertebra
93575000	Incomplete ossification of centrum of sacral vertebra
93576004	Incomplete ossification of centrum of thoracic vertebra
93577008	Incomplete ossification of clavicle
93578003	Incomplete ossification of exoccipital bone
93579006	Incomplete ossification of femur
93580009	Incomplete ossification of fibula
93582001	Incomplete ossification of frontal bone
93584000	Incomplete ossification of humerus
93585004	Incomplete ossification of hyoid bone
93587007	Incomplete ossification of interparietal bone
93588002	Incomplete ossification of ischium
93589005	Incomplete ossification of lacrimal bone
93590001	Incomplete ossification of mandible
93591002	Incomplete ossification of maxilla
93592009	Incomplete ossification of metacarpal bone
93593004	Incomplete ossification of metatarsal bone
93594005	Incomplete ossification of nasal bone
93595006	Incomplete ossification of palatine bone
93596007	Incomplete ossification of parietal bone
93597003	Incomplete ossification of premaxilla
93598008	Incomplete ossification of presphenoid bone
93599000	Incomplete ossification of pubis
93600002	Incomplete ossification of radius
93601003	Incomplete ossification of rib
93602005	Incomplete ossification of scapula
93603000	Incomplete ossification of squamosal bone
93604006	Incomplete ossification of sternebra
93605007	Incomplete ossification of supraoccipital bone
93606008	Incomplete ossification of talus
93607004	Incomplete ossification of tarsal bone
93608009	Incomplete ossification of tibia
93609001	Incomplete ossification of tympanic anulus
93610006	Incomplete ossification of ulna
93611005	Incomplete ossification of vomer
93612003	Incomplete ossification of zygomatic bone
93613008	Increased anogenital distance
93615001	Intercostal rib
93617009	Lack of ossification of alisphenoid bone
93619007	Lack of ossification of arch of cervical vertebra
93620001	Lack of ossification of arch of lumbar vertebra
93621002	Lack of ossification of arch of sacral vertebra
93622009	Lack of ossification of arch of thoracic vertebra
93623004	Congenital lack of ossification of auditory ossicles
93624005	Lack of ossification of basioccipital bone
93625006	Lack of ossification of basisphenoid bone
93626007	Lack of ossification of calcaneus
93627003	Lack of ossification of carpal bone
936271000000100	Congenital anomaly of precerebral vessel
93629000	Lack of ossification of centrum of cervical vertebra
93630005	Lack of ossification of centrum of lumbar vertebra
93631009	Lack of ossification of centrum of sacral vertebra
93632002	Lack of ossification of centrum of thoracic vertebra
93633007	Lack of ossification of clavicle
93634001	Lack of ossification of exoccipital bone
93635000	Lack of ossification of femur
94150003	Membranous ventricular septum defect
9417000	Platelet dense granule deficiency
94181000119108	Congenital duplication of renal collecting system without obstruction
943003	Congenital retinal aneurysm
94684003	Microblepharia
94685002	Microdactyly
94702005	Multiple congenital cardiac defects
94703000	Multiple intracardiac shunts
94706008	Muscular ventricular septum defect
95198001	Pure gonadal dysgenesis 46,XX
95202004	Coloboma of eyelid
95218005	Pure gonadal dysgenesis 46,XY
95219002	Pure gonadal dysgenesis
95233002	Retrocaval ureter
95234008	Retroesophageal aortic arch
95235009	Retroesophageal carotid artery
95236005	Retroesophageal pulmonary artery
95237001	Retroesophageal subclavian artery
95241002	Rhinocephaly
95242009	Right-sided pulmonary arterial trunk
95243004	Rolland-Debuqois syndrome
95245006	Sacral hemivertebra
95265004	Short supernumerary rib
95266003	Single naris
9527009	Tetrasomy 12p
95282002	Supernumerary arch of cervical vertebra
95283007	Supernumerary arch of lumbar vertebra
95284001	Supernumerary arch of sacral vertebra
95285000	Supernumerary arch of thoracic vertebra
95286004	Supernumerary azygos vein
95287008	Supernumerary calcaneus
95289006	Supernumerary centrum of cervical vertebra
95290002	Supernumerary centrum of lumbar vertebra
95291003	Supernumerary centrum of sacral vertebra
95292005	Supernumerary centrum of thoracic vertebra
95293000	Supernumerary cervical vertebra
95295007	Supernumerary fused sternebra
95297004	Supernumerary liver lobe
95298009	Supernumerary lumbar vertebra
95299001	Supernumerary metatarsal bone
95300009	Supernumerary sacral vertebra
95301008	Supernumerary tarsal bone
95302001	Supernumerary thoracic vertebra
95304000	Thoracic hemivertebra
95305004	Thoracoschisis
9537004	Juvenile GM 2 gangliosidosis
95462004	Anomaly of sex chromosome
95463009	Congenital anomaly of joint
95464003	Congenital absence of cranial vault
95465002	Congenital claw toe
95466001	Congenital perforation of nasal septum
95467005	Congenital tracheomalacia
95468000	Congenital bronchomalacia
95469008	Abnormal plantar creases
95470009	Congenital anomaly of digestive tract
95471008	Congenital arteriovenous malformation of gastrointestinal tract
95472001	Multiple gastrointestinal atresias
95473006	Congenital anomaly of jaw
95477007	Congenital degeneration of nervous system
95478002	Congenital sacral meningocele
95479005	Congenital sclerocornea
95480008	Anterior lenticonus
95481007	Anterior lentiglobus
95482000	Posterior lenticonus
95483005	Posterior lentiglobus
95484004	Congenital pigmentation of lens
95485003	Congenital anterior capsular pigmentation
95486002	Congenital blindness
95488001	Congenital macular corneal dystrophy
95489009	Congenital cyst of conjunctiva
95490000	Congenital anomaly of choroid
95491001	Congenital hypoplasia of choroid
95492008	Congenital hypopigmentation of choroid
95493003	Congenital retinoschisis
95494009	Retinal dysplasia
95495005	Multifocal retinal dysplasia
95496006	Geographic retinal dysplasia
95497002	Diffuse retinal dysplasia
95499004	Hypoplasia of the optic nerve
95500008	Persistent pupillary membranes
95501007	Retinal arteriovenous malformation
95502000	Congenital anomaly of optic nerve
95503005	Macropalpebral fissure
95504004	Ectopic cilia of eyelid
95505003	Congenitally small punctum lacrimale
95506002	Congenital displacement of punctum lacrimale
95507006	Congenital diverticulum of lacrimal canaliculus
95508001	Congenital obstruction of lacrimal canal
95509009	Congenital strabismus
95515009	Low set ears
95610008	Congenital brain damage
95652003	Congenital flaccid paralysis
95714006	Hypoplasia of iris
95827002	Congenital hearing disorder
95828007	Congenital deafness
9634000	Congenital dislocation of radial head
9660004	Congenital stenosis of trachea
9723006	Hyperphosphatasemia with bone disease
9740002	Macroencephaly
975000	Anorectal agenesis
975231000000107	Congenital umbilical hernia
9839007	Anomaly of chromosome pair 20
9904008	Congenital anomaly of cardiovascular system
9918001	Mobile kidney
9941009	Congenital syphilitic choroiditis
9989000	Congenital anomaly of toe

Congenital disease + all descendants

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