Disorders with possible learning disability codes
Metadata
- Coding system
- SNOMED CT (UK Clinical Edition)
- Coding system release
- 40.2.0
- Organisation
- NHSD Primary Care Domain Refsets
- Codelist ID
- nhsd-primary-care-domain-refsets/ldmay_cod
- Version Tag
- 20250627
- Version ID
- 2ca8c220
- Number of codes included
- 1,320
About
Description
Taken from the `LDMAY_COD` refset published by NHSD. Contains public sector information licensed under the UK Open Government Licence v3.0 (https://www.nationalarchives.gov.uk/doc/open-government-licence/version/3/).
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 |
|---|---|
| 1003322006 | Distal deletion of short arm of chromosome 3 |
| 1003358004 | Distal deletion of short arm of chromosome 8 |
| 1003364006 | Distal deletion of chromosome 13 |
| 1003376006 | Medial duplication of long arm of chromosome 9 |
| 1003377002 | Medial duplication of short arm of chromosome 1 |
| 1003380001 | 6q16 microdeletion syndrome |
| 1003381002 | Onycho-tricho-dysplasia neutropenia syndrome |
| 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 |
| 1003402006 | Maternal uniparental disomy of chromosome 15 |
| 1003403001 | Maternal uniparental disomy of chromosome 11 |
| 1003405008 | Maternal uniparental disomy of chromosome 14 |
| 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 |
| 1003444000 | Type 3 lissencephaly |
| 1003447007 | Pelizaeus-Merzbacher disease null syndrome |
| 1003449005 | Paternal 14q32.2 microdeletion |
| 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 |
| 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 |
| 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 |
| 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 |
| 1003918009 | Pfeiffer syndrome type 3 |
| 1003920007 | Sabinas brittle hair syndrome |
| 1003922004 | Rothmund Thomson syndrome type 1 |
| 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 |
| 1003937000 | Proximal deletion of chromosome 13 |
| 1010276004 | Ring chromosome |
| 1010613009 | Tetrasomy 15q |
| 1010638004 | Waardenburg syndrome type 3 |
| 1010663004 | Subcortical nodular heterotopia |
| 1010668008 | Stickler syndrome type 1 |
| 1035691000000104 | Has birth to 25 education, health and care plan |
| 10406007 | Lesch-Nyhan syndrome |
| 10567003 | Four X syndrome |
| 10741005 | Lipid storage disease |
| 108101000000105 | Leprechaunism |
| 111306001 | Multiple lentigines syndrome |
| 111307005 | Leprechaunism syndrome |
| 111308000 | Neurologic form of cretinism |
| 111383007 | Dysmorphic sialidosis, juvenile form |
| 111395007 | Arginine vasopressin resistance |
| 111396008 | Chédiak-Higashi syndrome |
| 111397004 | Saccharopinuria |
| 111398009 | Cystinosis |
| 11380006 | Mucopolysaccharidosis |
| 1145155005 | Lead and/or lead compound poisoning |
| 1148758003 | Congenital microcephaly |
| 1149087003 | Congenital microencephaly |
| 1149103000 | Citrullinemia type I |
| 1156799009 | Juvenile polyposis of infancy |
| 1156803005 | Neonatal glycine encephalopathy |
| 1156813002 | Gaucher disease with ophthalmoplegia and cardiovascular calcification |
| 1162462009 | Angelman syndrome due to maternal monosomy 15q11q13 |
| 1162839003 | XK aprosencephaly syndrome |
| 1162864000 | Familial porencephaly |
| 1167371007 | Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
| 1167373005 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
| 1169356004 | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome |
| 1169359006 | Tall stature, intellectual disability, renal anomalies syndrome |
| 1172588008 | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome |
| 1172590009 | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome |
| 1172591008 | Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome |
| 1172593006 | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome |
| 1172594000 | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
| 1172624000 | Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome |
| 1172627007 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
| 1172633003 | Camptodactyly syndrome Guadalajara type 3 |
| 1172683008 | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome |
| 1172685001 | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
| 1172696009 | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome |
| 1172843003 | Combined oxidative phosphorylation defect type 29 |
| 1172844009 | Combined oxidative phosphorylation defect type 27 |
| 1172889005 | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
| 1172898008 | Kosaki overgrowth syndrome |
| 1172899000 | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome |
| 1172900005 | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
| 1173036000 | Combined oxidative phosphorylation defect type 23 |
| 1173998003 | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
| 1177173001 | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome |
| 1177175008 | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
| 1177178005 | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome |
| 1179282009 | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
| 1179283004 | Metopic ridging, ptosis, facial dysmorphism syndrome |
| 1186710001 | Leukoencephalopathy with calcifications and cysts |
| 1186711002 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome |
| 1186730002 | Gabriele-de Vries syndrome |
| 1186734006 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
| 1186861004 | Classical pantothenate kinase associated neurodegeneration |
| 1187045009 | Aicardi Goutieres syndrome type 1 |
| 1187046005 | Aicardi Goutieres syndrome type 2 |
| 1187047001 | Aicardi Goutieres syndrome type 3 |
| 1187048006 | Aicardi Goutieres syndrome type 4 |
| 1187049003 | Aicardi Goutieres syndrome type 5 |
| 1187120008 | Stromme syndrome |
| 1187122000 | Witteveen Kolk syndrome |
| 1187195007 | Microcephalic cortical malformations, short stature due to rotatin deficiency |
| 1187212004 | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome |
| 1187215002 | Tubulinopathy-associated dysgyria |
| 1187233008 | Leukocyte adhesion deficiency |
| 1187250005 | Seizures, scoliosis, macrocephaly syndrome |
| 1187461004 | Glycogen storage disease due to aldolase A deficiency |
| 1187462006 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
| 1187467000 | Autosomal recessive spastic paraplegia type 9B |
| 1187506008 | Autosomal recessive spastic paraplegia type 77 |
| 1187520001 | Leigh syndrome due to cytochrome C oxidase deficiency |
| 1187545003 | Dopa responsive dystonia due to sepiapterin reductase deficiency |
| 1187564009 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
| 1187623009 | Phosphoglucomutase 3-related congenital disorder of glycosylation |
| 1187642008 | Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
| 1187643003 | Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome |
| 1187644009 | Basel Vanagaite Smirin Yosef syndrome |
| 1197059004 | Congenital ichthyosis, microcephalus, tetraplegia syndrome |
| 1197215004 | Microform holoprosencephaly |
| 1197593006 | Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
| 1197745002 | Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy |
| 1197747005 | Autosomal semi-dominant severe lipodystrophic laminopathy |
| 1197751007 | Lipase E, hormone sensitive type-related familial partial lipodystrophy |
| 1197753005 | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation |
| 1197756002 | Proximal myopathy with focal depletion of mitochondria |
| 1197758001 | Kernicterus spectrum disorder |
| 1208348002 | Microcephalic osteodysplastic primordial dwarfism type II |
| 1208478005 | Familial infantile bilateral striatal necrosis |
| 1208485009 | Multiple mitochondrial dysfunctions syndrome type 1 |
| 1208486005 | Multiple mitochondrial dysfunctions syndrome type 2 |
| 1208614008 | Autosomal dominant deafness with onychodystrophy syndrome |
| 1208620009 | Multiple mitochondrial dysfunctions syndrome type 3 |
| 1208720000 | Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
| 1208727002 | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
| 1208746001 | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
| 1208933000 | 4H leukodystrophy |
| 1208935007 | Polymicrogyria due to tubulin beta 2B class IIb mutation |
| 1208936008 | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
| 1208937004 | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
| 1208998007 | Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
| 1217212009 | Mitochondrial pyruvate carrier deficiency |
| 1217367007 | Phospholipase A2 activating protein-associated neurodevelopmental disorder |
| 1217371005 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
| 1217379007 | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
| 1217381009 | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
| 1217382002 | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
| 1220568003 | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
| 1220574003 | Component of oligomeric golgi complex 6-congenital disorder of glycosylation |
| 1220598005 | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy |
| 1220600004 | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy |
| 1222655009 | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome |
| 1222658006 | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
| 1222659003 | Ring finger protein 13-related severe early-onset epileptic encephalopathy |
| 1222660008 | Pancreatic agenesis, holoprosencephaly syndrome |
| 1222671009 | 3-methylglutaconic aciduria type 8 |
| 1222680009 | Combined oxidative phosphorylation defect type 24 |
| 1222681008 | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome |
| 1222708006 | Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome |
| 1228844002 | 1p35.2 microdeletion syndrome |
| 1228871002 | Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome |
| 1228890005 | 16p13.2 microdeletion syndrome |
| 1229872004 | Xq25 microduplication syndrome |
| 1229882003 | 11q22.2q22.3 microdeletion syndrome |
| 1229883008 | 19p13.3 microduplication syndrome |
| 1229943004 | SIM bHLH transcription factor 1-related Prader-Willi-like syndrome |
| 1230295000 | B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome |
| 1231626009 | Syndromic nanophthalmos due to Kenny-Caffey syndrome |
| 1231746006 | Isolated agenesis of cerebellar vermis |
| 123309000 | Chediak-Higashi syndrome |
| 1236807002 | Encephalopathy due to mitochondrial and peroxisomal fission defect |
| 1236845001 | DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum |
| 1237179007 | FG syndrome type 1 |
| 1237228009 | Night blindness, skeletal anomalies, dysmorphism syndrome |
| 1237344003 | Symptomatic form of fragile X syndrome in female carrier |
| 1237417007 | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation |
| 1237462006 | nudE neurodevelopment protein 1-related microhydranencephaly |
| 1237475006 | Cerebellar-facial-dental syndrome |
| 1237512003 | Short stature, developmental delay, congenital heart defect syndrome |
| 1237514002 | Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome |
| 1237515001 | Leukodystrophy due to alkaline ceramidase 3 deficiency |
| 1237625002 | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency |
| 124239003 | Deficiency of guanidinoacetate methyltransferase |
| 124252008 | Deficiency of transaldolase |
| 124258007 | Deficiency of acetyl-coenzyme A acetyltransferase |
| 124302001 | Deficiency of galactokinase |
| 124353000 | Deficiency of UTP-hexose-1-phosphate uridylyltransferase |
| 124354006 | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase |
| 124432005 | Deficiency of phosphoserine phosphatase |
| 124513002 | Deficiency of biotinidase |
| 124611007 | Deficiency of hydroxymethylglutaryl-CoA lyase |
| 124680001 | Deficiency of methylmalonyl-coenzyme A mutase |
| 124705001 | Deficiency of glutamate-cysteine ligase |
| 1251450006 | 16p12.1p12.3 triplication syndrome |
| 1251452003 | 4q25 proximal deletion syndrome |
| 1251488008 | Spondylodysplastic Ehlers-Danlos syndrome |
| 1254651003 | Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
| 1254652005 | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
| 1254946006 | Hypopigmentation-immunodeficiency disease type 1 |
| 1255121003 | Classical-like Ehlers-Danlos syndrome type 2 |
| 1255271005 | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome |
| 1255322002 | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
| 1259106002 | Alexander disease type I |
| 1259108001 | Alexander disease juvenile form |
| 1260129000 | Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome |
| 1260130005 | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
| 1260134001 | Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
| 1260140008 | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome |
| 1260142000 | Congenital vertebral, cardiac, renal anomalies syndrome |
| 1260240000 | Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha |
| 1260363007 | Dystonia due to Pelizaeus-Merzbacher disease |
| 1260366004 | Dystonia due to Niemann-Pick disease type C |
| 1260375002 | Epilepsy due to glucose transporter protein type 1 deficiency syndrome |
| 1260449002 | Polyendocrine polyneuropathy syndrome |
| 1269226006 | Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
| 1269236003 | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome |
| 1275631007 | Developmental and epileptic encephalopathy |
| 1279845005 | Combined oxidative phosphorylation defect type 39 |
| 1279884000 | Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 |
| 1279890001 | Multiple mitochondrial dysfunctions syndrome type 5 |
| 1279891002 | Multiple mitochondrial dysfunctions syndrome type 6 |
| 1281842000 | G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum |
| 1281843005 | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome |
| 1281844004 | Dystonia 28 |
| 128188000 | Cerebral palsy |
| 128206006 | Congenital sensory neuropathy with selective loss of small myelinated fibers |
| 128207002 | Giant axonal neuropathy |
| 1284851009 | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome |
| 1284855000 | Serine biosynthesis pathway deficiency, infantile/juvenile form |
| 1293015005 | Methylmalonate semialdehyde dehydrogenase deficiency |
| 1293018007 | Deficiency of methylmalonyl-coenzyme A epimerase |
| 1295488006 | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
| 1296731001 | Atypical Krabbe disease due to saposin A deficiency |
| 1296784002 | Neuronal ceroid lipofuscinosis type 6A |
| 1296847007 | Methylcobalamin deficiency type cblE |
| 1296869000 | Methyl-cytosine phosphate guanine binding protein-2 related disorder |
| 1299152003 | Adult-onset progressive leukoencephalopathy, early-onset deafness |
| 1300117002 | Luscan Lumish syndrome |
| 1300119004 | SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome |
| 1300128003 | Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome |
| 1300188000 | Congenital pontocerebellar hypoplasia type 11 |
| 1300190004 | Congenital pontocerebellar hypoplasia type 12 |
| 1300191000 | Congenital pontocerebellar hypoplasia type 13 |
| 1300192007 | Congenital pontocerebellar hypoplasia type 14 |
| 13003007 | Cystathioninuria |
| 1303273003 | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome |
| 13138006 | Lysinuric protein intolerance |
| 13555004 | Ring chromosome 22 syndrome |
| 14210003 | Lipofuscinosis |
| 15069006 | Russell-Silver syndrome |
| 15182000 | Coffin-Lowry syndrome |
| 15228007 | Atrophia bulborum hereditaria |
| 15285008 | Adenylosuccinate lyase deficiency |
| 154661001 | Congenital hypothyroidism |
| 155037000 | Childhood absence epilepsy |
| 156894003 | Congenital hydrocephalus |
| 156957008 | Hirschsprung's disease |
| 157022000 | Edwards' syndrome |
| 157117002 | Congenital rubella syndrome |
| 15892005 | Mucopolysaccharidosis III-D |
| 16171003 | Double athetosis |
| 16242007 | Hereditary orotic aciduria |
| 17025000 | Vascular Ehlers-Danlos syndrome |
| 170695009 | Mental handicap problem |
| 17122004 | 4p partial monosomy syndrome |
| 1779005 | Mohr syndrome |
| 1829003 | Microcephalus |
| 1855002 | Developmental academic disorder |
| 1857005 | Congenital rubella syndrome |
| 18899000 | Schinzel-Giedion syndrome |
| 18927009 | Niemann-Pick disease, type D |
| 1894461000000101 | Fetal Alcohol Spectrum Disorder without sentinel facial features |
| 190268003 | Congenital hypothyroidism |
| 190273009 | Congenital hypothyroidism: [cretinism] or [NOS] |
| 190681003 | Cystinosis |
| 190687004 | Phenylketonuria |
| 190690005 | Hydroxykynureninuria |
| 190696004 | Chediak-Higashi syndrome |
| 190745006 | Galactosemia |
| 190761008 | Pyruvate dehydrogenase deficiency |
| 190948002 | Defect in post-translational modification of lysosomal enzymes |
| 191689008 | Active infantile autism |
| 191690004 | Residual infantile autism |
| 191692007 | Active disintegrative psychoses |
| 191693002 | Residual disintegrative psychoses |
| 192949002 | Congenital paraplegia |
| 192958009 | Hypotonic cerebral palsy |
| 192980007 | Childhood absence epilepsy |
| 192990004 | Myoclonic epilepsy in infancy |
| 193413001 | Leber's amaurosis |
| 19604005 | Triglyceride storage disease with ichthyosis |
| 197571000000107 | Cerebro-costo-mandibular syndrome |
| 19886006 | Sturge-Weber syndrome |
| 204032005 | Reduction deformities of brain |
| 204065002 | Congenital hydrocephalus NOS |
| 204102004 | Cryptophthalmos syndrome |
| 20415001 | Progressive sclerosing poliodystrophy |
| 204298001 | Double outlet right ventricle, unspecified |
| 204302009 | Double outlet right ventricle NOS |
| 204739008 | Congenital aganglionic megacolon |
| 204742002 | Hirschsprung's disease NOS |
| 205257004 | (Acrocephalo (& [poly]) syndactyly) or (Apert's syndrome) |
| 205258009 | Acrocephalosyndactyly type I |
| 205468002 | Hypochondroplasia |
| 205506004 | Craniodiaphyseal dysplasia |
| 205567005 | Incontinentia pigmenti |
| 205596006 | (Congenital monilethrix) or (beaded hair) |
| 205619006 | Trisomy 13, meiotic nondisjunction |
| 205620000 | Trisomy 13 - mitotic nondisjunction mosaicism |
| 205623003 | Trisomy 18 - meiotic nondisjunction |
| 205624009 | Trisomy 18 - mitotic nondisjunction mosaicism |
| 205630009 | Deletion of long arm of chromosome 13 |
| 205636003 | Whole chromosome monosomy - meiotic nondisjunction |
| 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 |
| 205720009 | Fragile X chromosome |
| 205788004 | Fetal alcohol syndrome |
| 205790003 | Fetal warfarin syndrome |
| 205800003 | Gorlin-Chaudhry-Moss syndrome |
| 205803001 | Costello syndrome |
| 205810007 | Floating-Harbor syndrome |
| 205824006 | Noonan's syndrome |
| 205828009 | Biemond's syndrome |
| 205838004 | Congenital hemihypertrophy |
| 21086008 | Cockayne syndrome |
| 212519002 | Lead compound poisoning |
| 217710005 | Congenital iodine deficiency syndrome |
| 22155002 | Anterior chamber cleavage syndrome |
| 22436005 | Classical galactosemia |
| 224958001 | Global developmental delay |
| 230264003 | Troyer syndrome |
| 230265002 | Familial Alzheimer's disease of early onset |
| 230332007 | Diurnal dystonia |
| 230368002 | Type III transitional Pelizaeus-Merzbacher disease |
| 230369005 | Type IV adult Pelizaeus-Merzbacher disease |
| 230370006 | Type V atypical Pelizaeus-Merzbacher disease |
| 230371005 | Type VI Cockayne Pelizaeus-Merzbacher disease |
| 230421008 | Epilepsy with myoclonic-atonic seizures |
| 230423006 | Unverricht-Lundborg syndrome |
| 230466004 | Alternating hemiplegia of childhood |
| 230672006 | Congenital myasthenic syndrome |
| 230773005 | Spastic cerebral palsy |
| 230780007 | Dyskinetic cerebral palsy |
| 230781006 | Dystonic/rigid cerebral palsy |
| 23150001 | Proteus syndrome |
| 231536004 | Atypical autism |
| 232057003 | Usher syndrome type 1 |
| 232063007 | Familial exudative vitreoretinopathy |
| 234138005 | Bannayan syndrome |
| 234583001 | Leukocyte adhesion deficiency - type 2 |
| 234633000 | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency |
| 23560001 | Asperger's disorder |
| 235729009 | Congenital microvillous atrophy |
| 236476008 | Lysinuric protein intolerance |
| 236529001 | Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
| 236531005 | Renal dysplasia and retinal aplasia |
| 237565000 | Congenital iodine deficiency syndrome of mixed type |
| 237566004 | Congenital iodine deficiency syndrome of neurological type |
| 237612000 | Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
| 237659007 | Pseudopseudohypoparathyroidism |
| 237824009 | Juvenile Graves' disease |
| 237914002 | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| 237943005 | Lysinuric protein intolerance |
| 237945003 | Complete deficiency of methylmalonyl-coenzyme A mutase |
| 237946002 | Partial deficiency of methylmalonyl-coenzyme A mutase |
| 237951008 | 3-Methylglutaconic aciduria type 1 |
| 237980004 | D-Glyceric aciduria |
| 237984008 | Neurogenic muscle weakness, ataxia and retinitis pigmentosa |
| 237985009 | Pearson's syndrome |
| 237988006 | Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
| 237989003 | Succinate-coenzyme Q reductase deficiency |
| 238003000 | Carnitine acylcarnitine translocase deficiency |
| 238006008 | Disorder of purine and pyrimidine metabolism |
| 238007004 | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| 238016000 | Dihydropyrimidine dehydrogenase deficiency |
| 238025006 | GM1 gangliosidosis |
| 238030005 | Galactocerebroside beta-galactosidase deficiency - early onset |
| 238043005 | Disorder of glycosaminoglycan metabolism |
| 238044004 | Mucopolysaccharidosis type IVB |
| 238045003 | Disorder of glycoprotein metabolism |
| 238061001 | Neonatal adrenoleukodystrophy |
| 238062008 | Infantile Refsum's disease |
| 238070003 | Glutaryl-coenzyme A oxidase deficiency |
| 23817003 | Levy-Hollister syndrome |
| 238826008 | de Barsy syndrome |
| 238872007 | Acrogeria |
| 238874008 | Neonatal pseudo-hydrocephalic progeroid syndrome |
| 238875009 | Wrinkly skin syndrome |
| 239030004 | Orofacial-digital syndrome III |
| 239087008 | Cantu's syndrome |
| 239112008 | Epidermal nevus syndrome |
| 239826001 | Chronic infantile neurological, cutaneous and articular syndrome |
| 240063002 | Eichsfeld type congenital muscular dystrophy |
| 240081004 | Autosomal recessive centronuclear myopathy |
| 240305000 | Neonatal thrombocytopenia due to platelet alloimmunization |
| 2438005 | Iniencephaly |
| 24786004 | 7p partial monosomy |
| 24790002 | Proximal renal tubular acidosis |
| 253136007 | Lobar holoprosencephaly |
| 253137003 | Alobar holoprosencephaly |
| 253138008 | Semi-lobar holoprosencephaly |
| 253159001 | Schizencephaly |
| 253166000 | Lateral meningocele |
| 253170008 | Hemimegalencephaly |
| 25362006 | Phytanic acid storage disease |
| 254021002 | Bicoronal craniosynostosis |
| 254066006 | Wolcott-Rallison dysplasia |
| 254079002 | Spondyloenchondrodysplasia |
| 254112001 | Osteoporosis with pseudoglioma |
| 254116003 | Geroderma osteodysplastica |
| 254122007 | Osteopetrosis with renal tubular acidosis |
| 254129003 | Osteopathia striata with cranial sclerosis |
| 254144002 | Osteoglophonic dysplasia |
| 254150007 | Francois syndrome |
| 254179000 | Epidermolysis bullosa simplex herpetiformis |
| 254254006 | Fetal toluene syndrome |
| 254261005 | Pseudotrisomy 18 |
| 254265001 | Edward's syndrome NOS |
| 254266000 | Partial trisomy 18 in Edward's syndrome |
| 254269007 | Whole chromosome trisomy meiotic nondisjunction |
| 254272000 | Triploidy and polyploidy |
| 254274004 | Deletion of part of autosome |
| 254281006 | Turner's phenotype - ring chromosome karyotype |
| 2593002 | Dubowitz's syndrome |
| 26015003 | Maroteaux-Lamy syndrome, intermediate form |
| 26445008 | Cat eye syndrome |
| 267376007 | Congenital hypothyroidism NOS |
| 26745009 | Mucopolysaccharidosis type I-H/S |
| 268302006 | Aberrant thyroid gland |
| 270520003 | Whole chromosome monosomy - mitotic nondisjunction mosaicism |
| 270521004 | Trisomy and partial trisomy of autosome |
| 270889005 | Deletion of long arm of chromosome 18 |
| 275468009 | Congenital quadriplegia |
| 27637000 | Dextrocardia |
| 276854003 | Educationally subnormal |
| 27718001 | Maple syrup urine disease |
| 277644009 | Congenital varicella syndrome |
| 278503003 | Congenital hypothyroidism with diffuse goiter |
| 278512001 | Ataxic cerebral palsy |
| 28093001 | Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria |
| 28183005 | Fructose-biphosphatase deficiency |
| 28292003 | Methylmalonyl-CoA mutase deficiency |
| 284449005 | Congenital total lipodystrophy |
| 2884008 | Weill-Marchesani syndrome |
| 29145002 | Schwartz-Jampel syndrome |
| 29352008 | Thanatophoric dysplasia |
| 29570005 | Leigh's disease |
| 29633007 | Glycogen storage disease |
| 297225000 | Maternal phenylketonuria |
| 297232009 | 3-Methylglutaconic aciduria type 3 |
| 29914000 | Dihydrolipoamide dehydrogenase deficiency |
| 30023002 | Hydranencephaly |
| 30287008 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| 303852004 | Lysinuric protein intolerance |
| 30575002 | Fanconi's anemia |
| 306191000000105 | Carey Fineman Ziter syndrome |
| 307756005 | Cerebral palsy, not congenital or infantile, acute |
| 30915001 | Holoprosencephaly sequence |
| 309776008 | Costello syndrome |
| 312214005 | Floating-Harbor syndrome |
| 312514006 | Netherton syndrome |
| 31325007 | Ring chromosome 21 syndrome |
| 31742004 | Arteriohepatic dysplasia |
| 32219008 | Craniorachischisis |
| 32985001 | Greig cephalopolysyndactyly syndrome |
| 33116002 | Hydroxykynureninuria |
| 33559001 | Pineal hyperplasia AND diabetes mellitus syndrome |
| 33595009 | Arachnoid cyst |
| 33979003 | Nievergelt's syndrome |
| 33982008 | Hyperphosphatasemia with intellectual disability |
| 344201000000106 | Lenz microphthalmia syndrome |
| 34513009 | Zebra body myopathy |
| 34748004 | Adams-Oliver syndrome |
| 35111009 | Trisomy X syndrome |
| 35919005 | Pervasive developmental disorder |
| 360994007 | Deficiency of Xaa-Pro dipeptidase |
| 3614006 | Cretinism |
| 367374009 | Cystinosis |
| 367410007 | Lysinuric protein intolerance |
| 367520004 | Incontinentia pigmenti syndrome |
| 367524008 | Hypoplasia of thyroid |
| 36799008 | Glutamate-cysteine ligase deficiency |
| 369051000000105 | Lenz microphthalmia syndrome |
| 371079004 | Paraplegic cerebral palsy |
| 373587001 | Chiari malformation type II |
| 373618009 | Autistic spectrum disorder with isolated skills |
| 37548006 | Hypopigmentation-immunodeficiency disease |
| 378007 | Morquio syndrome |
| 38196001 | Laron-type isolated somatotropin defect |
| 38215007 | Oculodentodigital syndrome |
| 38323006 | Fetal warfarin syndrome |
| 38342005 | Toxic effect of lead compound |
| 389161008 | Sponastrime dysplasia |
| 389162001 | Acroscyphodysplasia |
| 389171005 | Yunis-Varon dysplasia |
| 389199001 | Cole-Carpenter dysplasia |
| 39390005 | Niemann-Pick disease, type B |
| 39788007 | Ectrodactyly-ectodermal dysplasia-clefting syndrome |
| 39925003 | Juvenile myopathy, encephalopathy, lactic acidosis, stroke |
| 39951000119105 | Pervasive developmental disorder of residual state |
| 399947002 | Progeroid short stature with pigmented nevi |
| 403767009 | Acrocephalopolysyndactyly type II |
| 403834003 | Hyperimmunoglobulinemia D with periodic fever |
| 408856003 | Autistic disorder |
| 408857007 | Infantile autism |
| 408858002 | Infantile psychosis |
| 410058007 | Histidinemia |
| 41013004 | Argininosuccinate lyase deficiency |
| 41069008 | Langer-Giedion syndrome |
| 41283003 | Cerebro-oculo-facio-skeletal syndrome |
| 413924001 | Cortical visual impairment |
| 41572006 | Mucopolysaccharidosis III-A |
| 420932006 | Episodic ataxia type 2 |
| 4242009 | 18q partial monosomy syndrome |
| 42432003 | Oto-palato-digital syndrome, type II |
| 429753001 | Congenital nonprogressive myopathy with Moebius and Robin sequences |
| 432091002 | Savant syndrome |
| 43248007 | Penta X syndrome |
| 43486001 | Hemiplegic cerebral palsy |
| 43614003 | Autistic disorder of childhood onset |
| 438504004 | Lenz microphthalmia syndrome |
| 438583008 | Congenital bilateral perisylvian syndrome |
| 439143004 | Simpson-Golabi-Behmel syndrome |
| 440092001 | Endemic congenital iodine deficiency syndrome of myxedematous type |
| 441134009 | Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type |
| 44145005 | Self-limited epilepsy with centrotemporal spikes |
| 442300000 | Rhombencephalosynapsis |
| 442314000 | Active but odd autism |
| 443333004 | Medulloblastoma |
| 44423001 | Early myoclonic encephalopathy |
| 444645005 | Dent's disease |
| 444944006 | Deficiency of 2,4-dienoyl-coenzyme A reductase |
| 445252005 | Glucose transporter protein type 1 deficiency syndrome |
| 445257004 | Nance-Horan syndrome |
| 445274004 | Deficiency of isobutyryl-coenzyme A dehydrogenase |
| 44600005 | Xeroderma pigmentosum |
| 447351004 | Vanishing white matter disease |
| 449817000 | Peters plus syndrome |
| 449824004 | Marden Walker syndrome |
| 458432002 | Arterial tortuosity syndrome |
| 459063003 | Congenital disorder of glycosylation type Ia |
| 46683007 | Pyruvate dehydrogenase complex deficiency |
| 47032000 | Congenital hydrocephalus |
| 47437004 | Mental handicap |
| 47535005 | Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome |
| 48718006 | Roberts-SC phocomelia syndrome |
| 48721008 | Quadriplegic cerebral palsy |
| 50749006 | Double Y syndrome |
| 50866000 | Childhood absence epilepsy |
| 50967008 | Gangliosidosis |
| 51409009 | Asymmetric crying face association |
| 51780007 | Cerebro-costo-mandibular syndrome |
| 519741000000108 | Dent's disease |
| 52165006 | Niemann-Pick disease, type A |
| 52186006 | Dysmorphic sialidosis |
| 523411000000105 | Townes-Brocks syndrome |
| 527611000000103 | Childhood absence epilepsy |
| 52947006 | Japanese encephalitis virus disease |
| 54898003 | Multiple sulfatase deficiency |
| 5619004 | Bardet-Biedl syndrome |
| 56409008 | Monoplegic cerebral palsy |
| 5667009 | Hunter's syndrome, mild form |
| 56677004 | Pallister-Hall syndrome |
| 56692003 | Rhizomelic chondrodysplasia punctata syndrome |
| 57119000 | Hyperammonemia, type III |
| 58037000 | Cowden syndrome |
| 58193001 | Diplegic cerebral palsy |
| 58263000 | Maroteaux-Lamy syndrome, severe form |
| 58459009 | Sphingomyelin/cholesterol lipidosis |
| 58558003 | Hyperlysinemia |
| 58833000 | Pseudohypoparathyroidism type I A |
| 588401000000109 | Double outlet right ventricle NOS |
| 59178007 | Menkes kinky-hair syndrome |
| 59252009 | de Barsey syndrome |
| 593921000000101 | Hirschsprung's disease NOS |
| 59399004 | Cutis laxa, x-linked |
| 59761008 | Glutamate formiminotransferase deficiency |
| 59990008 | Mucopolysaccharidosis III-B |
| 60318001 | Duane's syndrome |
| 60743005 | Purine-nucleoside phosphorylase deficiency |
| 60876000 | Gardner syndrome |
| 609565001 | Permanent neonatal diabetes mellitus |
| 609572000 | Maturity-onset diabetes of the young, type 5 |
| 613003 | Fragile X syndrome |
| 61367005 | Jarcho-Levin syndrome |
| 613821000000101 | Congenital hydrocephalus NOS |
| 62501005 | Chondroectodermal dysplasia |
| 62578003 | Congenital defect of folate absorption |
| 62803002 | Frontometaphyseal dysplasia |
| 63119004 | Weaver syndrome |
| 63246000 | Cholestanol storage disease |
| 63387002 | Larsen syndrome |
| 64491003 | Myxedematous form of cretinism |
| 64852002 | Sarcosine dehydrogenase deficiency |
| 64855000 | Pelizaeus-Merzbacher disease |
| 65389002 | Adrenoleukodystrophy |
| 657511000000105 | Double outlet right ventricle, unspecified |
| 66651005 | Triploidy syndrome |
| 66751000 | Niemann-Pick disease, type C |
| 6687001 | Hirschsprung's disease |
| 6729006 | Cerebral-retinal arteriovenous aneurysm |
| 67817003 | Pili torti-deafness syndrome |
| 67854007 | Maroteaux-Lamy syndrome, mild form |
| 67855008 | Niemann-Pick disease, type C, subacute form |
| 681041000000102 | Congenital hypothyroidism NOS |
| 68926002 | Idiopathic arterial calcification of infancy |
| 69080001 | Propionic acidemia |
| 69116000 | Moyamoya disease |
| 69408002 | Gorlin syndrome |
| 69463008 | Maroteaux-Lamy syndrome |
| 69488000 | Beaded hair |
| 69614003 | Adenosylcobalamin synthesis defect |
| 698021005 | Familial sleep-related hypermotor epilepsy |
| 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 |
| 698849002 | Tetrasomy 18p |
| 698851003 | SOX2 anophthalmia syndrome |
| 699254009 | Microdeletion of chromosome 15q13.3 |
| 699297004 | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type |
| 699300009 | Oculofaciocardiodental syndrome |
| 699308002 | Microdeletion of chromosome 15q24 |
| 699310000 | 22q13.3 deletion syndrome |
| 699311001 | 22q11.2 duplication syndrome |
| 699315005 | Neutral lipid storage disease with myopathy |
| 699447001 | Zimmermann-Laband syndrome |
| 699866005 | Progressive bulbar palsy with sensorineural deafness |
| 700056005 | Mosaic variegated aneuploidy syndrome |
| 700063005 | Megalencephaly capillary malformation |
| 70041004 | Erythrokeratodermia variabilis |
| 70065001 | Fetal hydantoin syndrome |
| 702314005 | Non-spastic cerebral palsy |
| 702315006 | Dystonic cerebral palsy |
| 702316007 | Choreic cerebral palsy |
| 702318008 | Mixed cerebral palsy |
| 702319000 | Bilateral cerebral palsy |
| 702320006 | Triplegic cerebral palsy |
| 702321005 | Pentaplegic cerebral palsy |
| 702346005 | Chromosome 11p11.2 deletion syndrome |
| 702365002 | Combined malonic and methylmalonic aciduria |
| 702407009 | Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation |
| 702417004 | Supernumerary der(22)t(11;22) syndrome |
| 702431004 | Microcephaly-oculo-digito-esophageal-duodenal syndrome |
| 702437000 | Amish lethal microcephaly |
| 702441001 | Fatal X-linked ataxia with deafness and loss of vision |
| 702443003 | Auriculo-condylar syndrome |
| 702450004 | FOXG1 syndrome |
| 702721000000109 | Edward's syndrome NOS |
| 703193000 | Congenital malformation of dural sinus |
| 703403003 | Ophthalmo-acromelic syndrome |
| 703406006 | Trichohepatoenteric syndrome |
| 70348004 | Pendred's syndrome |
| 703508009 | Ear, patella, short stature syndrome |
| 703524005 | Spinal muscular atrophy with progressive myoclonic epilepsy |
| 703534001 | Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits |
| 703535000 | Mowat-Wilson syndrome |
| 703544004 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia |
| 70737009 | Mucopolysaccharidosis type II |
| 708037001 | Residual Asperger's disorder |
| 711153001 | Bowen-Conradi syndrome |
| 711155008 | ALG12-congenital disorder of glycosylation |
| 711156009 | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome |
| 711159002 | Histiocytosis-lymphadenopathy plus syndrome |
| 711406009 | Autosomal recessive axonal neuropathy with neuromyotonia |
| 715215007 | Chromosome 11p13 deletion syndrome |
| 715338007 | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria |
| 715406003 | Isolated lissencephaly type 1 without known genetic defect |
| 715421009 | Craniofrontonasal dysplasia |
| 715422002 | Craniotelencephalic dysplasia |
| 715431002 | Embryopathy caused by phenobarbital |
| 715440003 | Mirror hands and feet co-occurrent with nasal defect |
| 715463008 | Congenital pontocerebellar hypoplasia type 2 |
| 715530004 | Tetrasomy of short arm of chromosome 9 |
| 715532007 | Weismann Netter syndrome |
| 715564000 | Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity |
| 715625007 | Growth delay due to insulin-like growth factor I resistance |
| 715629001 | Generalized epilepsy and paroxysmal dyskinesia syndrome |
| 715652002 | Mesomelic dysplasia Savarirayan type |
| 715653007 | Spondyloocular syndrome |
| 715666007 | Charcot-Marie-Tooth disease type IE |
| 715726000 | Spinocerebellar ataxia type 7 |
| 715727009 | Pituitary stalk interruption syndrome |
| 715734006 | Congenital absence of half of thyroid |
| 715789009 | Myotonia permanens |
| 715825009 | Spinocerebellar ataxia type 29 |
| 715827001 | Autosomal recessive dopa responsive dystonia |
| 715867000 | Pseudoaminopterin syndrome |
| 715905006 | Unilateral polymicrogyria |
| 715923003 | Lysosomal acid lipase deficiency |
| 716023007 | Prominent glabella with microcephaly and hypogenitalism syndrome |
| 716110002 | Upper limb defect with eye and ear abnormalities syndrome |
| 716194005 | Pili torti with developmental delay and neurological abnormality syndrome |
| 716199000 | Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome |
| 716230005 | Shprintzen Goldberg omphalocele syndrome |
| 716238003 | Deafness with epiphyseal dysplasia and short stature syndrome |
| 716248001 | Cleft lip and cleft palate with ectodermal dysplasia syndrome |
| 716278005 | Epilepsy with eyelid myoclonia |
| 716337006 | Seaver Cassidy syndrome |
| 716663009 | Severe early childhood onset retinal dystrophy |
| 716706009 | Female restricted epilepsy with intellectual disability syndrome |
| 716709002 | FRAXE intellectual disability syndrome |
| 716743006 | Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor |
| 716863007 | Citrullinemia type II |
| 716868003 | Multicentric osteolysis nodulosis arthropathy spectrum |
| 717041008 | Syndromic recessive X-linked ichthyosis |
| 717048002 | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency |
| 717052002 | Maternally inherited Leigh syndrome |
| 717223008 | X-linked epilepsy with learning disability and behavior disorder syndrome |
| 717225001 | Benign adult familial myoclonic epilepsy |
| 717276003 | Folinic acid responsive seizure syndrome |
| 717332007 | Cerebellar ataxia Cayman type |
| 717336005 | Autosomal dominant optic atrophy classic form |
| 717761005 | Choroideremia with deafness and obesity syndrome |
| 717772000 | Cerebro-oculo-dento-auriculo-skeletal syndrome |
| 717774004 | Component of oligomeric golgi complex 8 congenital disorder of glycosylation |
| 717792007 | Pseudohypoparathyroidism type 1C |
| 717913006 | Blepharonasofacial malformation syndrome |
| 717914000 | Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome |
| 717942003 | Brain dopamine-serotonin vesicular transport disease |
| 717943008 | Brain malformation, congenital heart disease, postaxial polydactyly syndrome |
| 718099006 | Enlarged parietal foramina |
| 718106009 | Hyperinsulinism and hyperammonemia syndrome |
| 718122005 | Piebaldism |
| 718182008 | Combined pituitary hormone deficiency genetic form |
| 718183003 | Familial thyroid dyshormonogenesis |
| 718214007 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome |
| 718219002 | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type |
| 718227006 | Proximal 16p11.2 microdeletion syndrome |
| 718555006 | Juvenile amyotrophic lateral sclerosis |
| 718575002 | Ablepharon macrostomia syndrome |
| 718605009 | Congenital pontocerebellar hypoplasia type 7 |
| 718610008 | Congenital pontocerebellar hypoplasia type 1 |
| 718712005 | Carbohydrate deficient glycoprotein syndrome type 1m |
| 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 |
| 718774001 | Spinocerebellar ataxia type 21 |
| 719042007 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome |
| 719098007 | Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome |
| 719202006 | Spondyloepiphyseal dysplasia tarda Kohn type |
| 719209002 | Spinocerebellar ataxia type 13 |
| 719252002 | Spinocerebellar ataxia type 27 |
| 719256004 | Pterygium colli with intellectual disability and digital anomaly syndrome |
| 719257008 | Lathosterolosis |
| 719275009 | Primary hypergonadotropic hypogonadism and partial alopecia syndrome |
| 719300001 | Spinocerebellar ataxia type 35 |
| 719394002 | Microcephalus cleft palate syndrome |
| 719405005 | Leukoencephalopathy with metaphyseal chondrodysplasia syndrome |
| 719429003 | Ectodermal dysplasia with acanthosis nigricans syndrome |
| 719466009 | Cleft palate with short stature and vertebral anomaly syndrome |
| 719580004 | 16q24.3 microdeletion syndrome |
| 719582007 | 17p13.3 microduplication syndrome |
| 719583002 | 17q11.2 microduplication syndrome |
| 719584008 | 17q23.1q23.2 microdeletion syndrome |
| 719597005 | 19p13.12 microdeletion syndrome |
| 71961003 | Childhood disintegrative disorder |
| 719650004 | 20p12.3 microdeletion syndrome |
| 719664004 | 8q22.1 microdeletion syndrome |
| 719684000 | 8q12 microduplication syndrome |
| 719816006 | X-linked sideroblastic anemia with spinocerebellar ataxia |
| 719817002 | X-linked spinocerebellar ataxia type 3 |
| 719823007 | Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome |
| 719833004 | Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome |
| 719837003 | X-linked dominant chondrodysplasia Chassaing Lacombe type |
| 719842006 | Congenital hypoplasia of ulna and intellectual disability syndrome |
| 7199000 | Tuberous sclerosis syndrome |
| 719972004 | Haddad syndrome |
| 720457000 | Acropectorovertebral dysplasia |
| 720466001 | Adult-onset dystonia parkinsonism |
| 720496006 | Anophthalmia plus syndrome |
| 720501007 | Arachnodactyly with abnormal ossification and intellectual disability syndrome |
| 720514008 | Arthrogryposis multiplex congenita and whistling face syndrome |
| 720565000 | Bohring Opitz syndrome |
| 720573009 | Brachymorphism with onychodysplasia and dysphalangism syndrome |
| 720602007 | Camptodactyly syndrome Guadalajara type 1 |
| 720606005 | Cardiocranial syndrome Pfeiffer type |
| 720746006 | Contracture with ectodermal dysplasia and orofacial cleft syndrome |
| 720750004 | Spinocerebellar degeneration and corneal dystrophy syndrome |
| 720756005 | Craniofacial ulnar renal syndrome |
| 720812002 | Craniosynostosis, anal anomaly, porokeratosis syndrome |
| 720813007 | Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
| 720819006 | Curry Jones syndrome |
| 720825005 | Cystic leukoencephalopathy without megalencephaly |
| 720855003 | Cerebrooculonasal syndrome |
| 720858001 | Ehlers-Danlos syndrome cardiac valvular type |
| 720861000 | Ehlers-Danlos syndrome progeroid type |
| 720956003 | Foix Chavany Marie syndrome |
| 720958002 | Frank-Ter Haar syndrome |
| 720976009 | Asparagine-linked glycosylation 3 congenital disorder of glycosylation |
| 721010003 | Heart-hand syndrome type 2 |
| 721073008 | Short stature with webbed neck and congenital heart disease syndrome |
| 721088003 | Developmental delay, epilepsy, neonatal diabetes syndrome |
| 721100009 | Component of oligomeric golgi complex 5 congenital disorder of glycosylation |
| 721105004 | Klippel Trenaunay syndrome |
| 721200000 | Early-onset X-linked optic atrophy |
| 721221000 | Hirschsprung disease with deafness and polydactyly syndrome |
| 721225009 | Homocystinuria without methylmalonic aciduria |
| 721229003 | Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome |
| 721297008 | Galloway Mowat syndrome |
| 721584005 | Johnson neuroectodermal syndrome |
| 721836009 | Hypertelorism with microtia and facial clefting syndrome |
| 721843003 | Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome |
| 721873007 | Joubert syndrome with orofaciodigital defect |
| 721874001 | Juberg Hayward syndrome |
| 721878003 | Microphthalmia with brain and digit anomaly |
| 721879006 | Microphthalmia with linear skin defect syndrome |
| 721883006 | Radioulnar synostosis with developmental delay and hypotonia syndrome |
| 721887007 | Puerto Rican infant hypotonia syndrome |
| 721903007 | Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
| 721974000 | Lowry MacLean syndrome |
| 721975004 | Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
| 722006004 | Isotretinoin embryopathy-like syndrome |
| 722051004 | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome |
| 722064003 | Odontoleukodystrophy |
| 722105002 | Oro-facial digital syndrome type 5 |
| 722106001 | Oro-facial digital syndrome type 8 |
| 722107005 | Ossification anomaly with psychomotor developmental delay syndrome |
| 722117000 | Osteosclerosis, developmental delay, craniosynostosis syndrome |
| 722122000 | Overgrowth, macrocephaly, facial dysmorphism syndrome |
| 722206009 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome |
| 722212004 | Severe X-linked mitochondrial encephalomyopathy |
| 722281001 | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
| 722287002 | Autism and facial port-wine stain syndrome |
| 722302009 | Glycogen storage disease due to acid maltase deficiency, infantile onset |
| 722376008 | Autosomal recessive popliteal pterygium syndrome |
| 722378009 | Congenital cataract with deafness and hypogonadism syndrome |
| 722429003 | Distal limb deficiency with micrognathia syndrome |
| 722430008 | Distal trisomy 6p syndrome |
| 722434004 | Dysspondyloenchondromatosis |
| 722435003 | Dystonia 16 |
| 722437006 | Ectopia lentis, chorioretinal dystrophy, myopia syndrome |
| 722453009 | Cutaneous mastocytosis, short stature, hearing loss syndrome |
| 722477003 | Toriello Carey syndrome |
| 722763000 | Infantile dystonia parkinsonism |
| 722859001 | PTEN hamartoma tumor syndrome |
| 723307008 | Ethylmalonic encephalopathy |
| 723359002 | Familial acute necrotizing encephalopathy |
| 723365002 | Hypotrichosis and intellectual disability syndrome Lopes type |
| 723405001 | Microlissencephaly micromelia syndrome |
| 723406000 | Embryopathy caused by mycophenolate mofetil |
| 723439002 | Native American myopathy |
| 723444009 | Noonan syndrome-like disorder with loose anagen hair |
| 723448007 | Polyvalvular heart disease syndrome |
| 723454008 | Phosphoribosylpyrophosphate synthetase superactivity |
| 723504000 | Ramos Arroyo syndrome |
| 723551003 | Trichothiodystrophy |
| 723621000 | Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
| 723622007 | X-linked spastic paraplegia type 2 |
| 723675006 | Sialidosis type 1 |
| 723820001 | Autosomal dominant spastic paraplegia type 4 |
| 723825006 | Autosomal recessive spastic paraplegia type 55 |
| 723995003 | Schimke immuno-osseous dysplasia |
| 724039002 | Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
| 724065003 | Autosomal recessive posterior column ataxia and retinitis pigmentosa |
| 724072002 | Paroxysmal exertion-induced dyskinesia |
| 724097003 | Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome |
| 724137002 | Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
| 724138007 | Mitochondrial myopathy with sideroblastic anemia syndrome |
| 724142005 | Carbohydrate deficient glycoprotein syndrome type 2a |
| 724146008 | Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria |
| 724173009 | Maternally inherited cardiomyopathy and hearing loss syndrome |
| 724177005 | Ligase 4 syndrome |
| 724178000 | Laryngeal abductor paralysis with intellectual disability syndrome |
| 724208006 | Keutel syndrome |
| 724226009 | Infantile osteopetrosis with neuroaxonal dysplasia syndrome |
| 724351008 | Hereditary hyperekplexia |
| 724576005 | Pyridoxal 5-phosphate dependent epilepsy |
| 725026008 | Hepatic glycogen synthase deficiency |
| 725030006 | Familial scaphocephaly syndrome McGillivray type |
| 725044000 | Carbohydrate deficient glycoprotein syndrome type 1o |
| 725079003 | Congenital disorder of glycosylation type 1j |
| 725142004 | Atelosteogenesis type 3 |
| 725146001 | Atypical juvenile parkinsonism |
| 725166005 | Autosomal recessive omodysplasia |
| 725394006 | Autosomal recessive ataxia due to ubiquinone deficiency |
| 725433003 | Autosomal recessive cerebellar ataxia Beauce type |
| 725589005 | Bullous dystrophy macular type |
| 7259005 | Mucopolysaccharidosis IV-A |
| 725911008 | Pierre Robin sequence, congenital heart defect, talipes syndrome |
| 726021008 | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
| 7265005 | Glycogen storage disease, type I |
| 726607007 | Autosomal recessive spastic paraplegia type 26 |
| 726609005 | Autosomal recessive spastic paraplegia type 64 |
| 726614009 | Autosomal recessive limb girdle muscular dystrophy type 2P |
| 726615005 | Autosomal recessive limb girdle muscular dystrophy type 2Q |
| 726617002 | Autosomal recessive limb girdle muscular dystrophy type 2N |
| 726618007 | Autosomal recessive limb girdle muscular dystrophy type 2M |
| 726621009 | Caudal appendage deafness syndrome |
| 726669007 | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome |
| 726672000 | Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
| 72991005 | Polyploidy syndrome |
| 73123008 | Mucopolysaccharidosis type I-S |
| 73146005 | Hunter's syndrome, severe form |
| 732929002 | Autosomal recessive limb girdle muscular dystrophy type 2S |
| 732930007 | Autosomal recessive limb girdle muscular dystrophy type 2T |
| 732948003 | Autosomal dominant spastic paraplegia type 10 |
| 732958004 | Spastic paraplegia with precocious puberty syndrome |
| 732959007 | Beta-propeller protein-associated neurodegeneration |
| 733033001 | Spinocerebellar ataxia dysmorphism syndrome |
| 733050004 | Dysmorphism, short stature, deafness, disorder of sex development syndrome |
| 733062000 | Marfanoid habitus with autosomal recessive intellectual disability syndrome |
| 733066002 | Trigonocephaly, short stature, developmental delay syndrome |
| 733084000 | Congenital disorder of glycosylation type 1n |
| 733088002 | Preaxial polydactyly, colobomata, intellectual disability syndrome |
| 733116005 | Aniridia, renal agenesis, psychomotor retardation syndrome |
| 733418003 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy |
| 733469003 | Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome |
| 733472005 | Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
| 733519008 | 17q12 microdeletion syndrome |
| 733521003 | Distal 16p11.2 microdeletion syndrome |
| 733604003 | Microcephalus, lymphedema, chorioretinopathy syndrome |
| 733606001 | Summitt syndrome |
| 733623005 | Autism spectrum disorder, epilepsy, arthrogryposis syndrome |
| 733630004 | Deficiency of alpha-ketoglutarate dehydrogenase |
| 733636005 | 3-phosphoglycerate dehydrogenase deficiency juvenile form |
| 733637001 | 3-phosphoglycerate dehydrogenase deficiency infantile form |
| 734022008 | Wolfram-like syndrome |
| 734173003 | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
| 734434007 | Pyridoxine-dependent epilepsy |
| 735421004 | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome |
| 73893000 | Congenital toxoplasmosis |
| 7484005 | Double outlet right ventricle |
| 74911008 | Dyskeratosis congenita |
| 74912001 | Hereditary methemoglobinemia due to globin chain mutation |
| 75019001 | Athetoid cerebral palsy |
| 75065003 | Endemic cretinism |
| 75238000 | Mucopolysaccharidosis III-C |
| 75610003 | Mucopolysaccharidosis type I |
| 75659004 | Acquired partial lipodystrophy |
| 7573000 | Classical phenylketonuria |
| 75968004 | Sotos' syndrome |
| 75979009 | Johanson-Blizzard syndrome |
| 760811000000108 | Dent's disease |
| 7611002 | Septo-optic dysplasia sequence |
| 763061004 | 20q11.2 microduplication syndrome |
| 763130006 | Cleft palate, large ears, small head syndrome |
| 763204003 | Combined oxidative phosphorylation defect type 7 |
| 763274002 | Distal trisomy 5q syndrome |
| 763311001 | Adrenomyodystrophy |
| 763312008 | Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome |
| 763348005 | Autosomal recessive cerebellar ataxia with late-onset spasticity |
| 763349002 | Progressive myoclonic epilepsy with dystonia |
| 763351003 | Spectrin-associated autosomal recessive cerebellar ataxia |
| 763353000 | Cerebrofacioarticular syndrome |
| 763367009 | Autosomal recessive spastic paraplegia type 48 |
| 763400005 | X-linked Charcot-Marie-Tooth disease type 4 |
| 763457000 | X-linked Charcot-Marie-Tooth disease type 2 |
| 763618001 | Wiedemann Steiner syndrome |
| 763714006 | Familial multiple nevi flammei |
| 763795006 | Malan overgrowth syndrome |
| 763833006 | Oro-facial digital syndrome type 1 |
| 763837007 | Oro-facial digital syndrome type 14 |
| 763863002 | Pectus excavatum, macrocephaly, dysplastic nails syndrome |
| 763890006 | Short stature with delayed bone age due to thyroid hormone metabolism deficiency |
| 764435003 | 17q12 microduplication syndrome |
| 764440006 | 19p13.13 microdeletion syndrome |
| 764522009 | Familial focal epilepsy with variable foci |
| 764621006 | Mosaic trisomy 16 syndrome |
| 764622004 | Mosaic trisomy 17 syndrome |
| 764686003 | Autosomal recessive spastic paraplegia type 15 |
| 764688002 | Autosomal recessive spastic paraplegia type 35 |
| 764703002 | 7p22.1 microduplication syndrome |
| 764725008 | 9p13 microdeletion syndrome |
| 764733009 | Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
| 764734003 | Autosomal recessive spastic paraplegia type 21 |
| 764812008 | Autosomal recessive myogenic arthrogryposis multiplex congenita |
| 764860006 | 3-methylglutaconic aciduria type 7 |
| 764956007 | Larsen-like osseous dysplasia, short stature syndrome |
| 765093009 | Rolandic epilepsy, speech dyspraxia syndrome |
| 765140006 | 8p23.1 duplication syndrome |
| 765170001 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy |
| 765326001 | Familial glucocorticoid deficiency |
| 765489006 | Ring chromosome 7 syndrome |
| 765757003 | Bilateral polymicrogyria |
| 766050000 | Distal monosomy 15q 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 |
| 766251006 | Lethal infantile mitochondrial myopathy |
| 76670001 | Duchenne muscular dystrophy |
| 766710005 | Isolated focal cortical dysplasia |
| 766755003 | Tetrasomy 5p syndrome |
| 766766005 | 1p31p32 microdeletion syndrome |
| 766767001 | Autosomal recessive spastic paraplegia type 67 |
| 766815007 | Perioral myoclonia with absences |
| 766824003 | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
| 767263007 | 22q11.2 deletion syndrome |
| 768666006 | Syntaxin binding protein 1 encephalopathy with epilepsy |
| 768843007 | Tall stature, intellectual disability, facial dysmorphism syndrome |
| 768846004 | N-glycanase 1 congenital disorder of deglycosylation |
| 768929003 | Trisomy 8p syndrome |
| 770404004 | Autosomal recessive chorioretinopathy and microcephaly syndrome |
| 770410004 | Distal monosomy 14q syndrome |
| 770431001 | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation |
| 770560008 | Lissencephaly due to LIS1 mutation |
| 770565003 | Microcephalic primordial dwarfism Dauber type |
| 770604006 | X-linked cerebral, cerebellar, coloboma syndrome |
| 770625006 | Combined immunodeficiency with faciooculoskeletal anomalies syndrome |
| 770629000 | Distal 17p13.1 microdeletion syndrome |
| 770665005 | Non-distal monosomy 10q |
| 770669004 | Paternal uniparental disomy of chromosome 5 |
| 770680004 | Prader-Willi-like syndrome |
| 770720005 | Autosomal recessive spastic paraplegia type 58 |
| 770721009 | Microcephaly, thin corpus callosum, intellectual disability syndrome |
| 770722002 | Proximal myopathy with extrapyramidal signs |
| 770723007 | Optic atrophy, intellectual disability syndrome |
| 770724001 | Autosomal recessive spastic paraplegia type 70 |
| 770725000 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| 770751003 | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome |
| 770754006 | 2p21 microdeletion syndrome without cystinuria |
| 770756008 | 2p13.2 microdeletion syndrome |
| 770790004 | Developmental delay with autism spectrum disorder and gait instability |
| 770793002 | 5p13 microduplication syndrome |
| 770794008 | 11p15.4 microduplication syndrome |
| 770898002 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency |
| 770902008 | Distal monosomy 12p |
| 770905005 | Distal 7q11.23 microdeletion syndrome |
| 770941005 | Alopecia, progressive neurological defect, endocrinopathy syndrome |
| 771013004 | Pilotto syndrome |
| 771074000 | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
| 771077007 | Intellectual disability, short stature, hypertelorism syndrome |
| 771148008 | X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
| 771179007 | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
| 771181009 | Hypertrichosis cubiti |
| 771182002 | Thumb deformity, alopecia, pigmentation anomaly syndrome |
| 771272007 | Congenital muscular dystrophy due to lamin A/C mutation |
| 771340007 | 15q11.2 microdeletion syndrome |
| 771341006 | 14q11.2 microduplication syndrome |
| 771439009 | 14q22q23 microdeletion syndrome |
| 771442003 | Ogden syndrome |
| 771448004 | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
| 771469002 | Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome |
| 771470001 | Jawad syndrome |
| 771476007 | Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome |
| 771477003 | 15q overgrowth syndrome |
| 772225005 | RAB18, member RAS oncogene family deficiency |
| 77287004 | Borderline intellectual disability |
| 773303005 | Spondyloepimetaphyseal dysplasia Genevieve type |
| 773307006 | Zechi Ceide syndrome |
| 773346008 | 20p13 microdeletion syndrome |
| 773398005 | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
| 773404000 | Roifman syndrome |
| 773415005 | Contiguous ABCD1 DXS1357E deletion syndrome |
| 773416006 | Intellectual disability, facial dysmorphism, hand anomalies syndrome |
| 773418007 | Xylosyltransferase 1 congenital disorder of glycosylation |
| 773425000 | Autosomal recessive spastic paraplegia type 59 |
| 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 |
| 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 |
| 773553003 | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome |
| 773554009 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
| 773556006 | Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
| 773578004 | Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
| 77358003 | Congenital leukocyte adherence deficiency |
| 773583007 | Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome |
| 773621003 | Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome |
| 773622005 | Craniofacial dysplasia osteopenia syndrome |
| 773628009 | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
| 773645004 | Familial infantile gigantism |
| 773648002 | Congenital cataract, hearing loss, severe developmental delay syndrome |
| 77365006 | Dihydropyrimidine dehydrogenase deficiency |
| 773664005 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome |
| 773692000 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome |
| 773735007 | Deafness with onychodystrophy syndrome |
| 773768000 | Emery Nelson syndrome |
| 773984007 | Piebald trait with neurologic defects syndrome |
| 774070008 | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
| 774102003 | Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
| 774149004 | Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
| 774203000 | Intellectual disability, severe speech delay, mild dysmorphism syndrome |
| 774204006 | Growth retardation, mild developmental delay, chronic hepatitis syndrome |
| 77527000 | 9p partial trisomy syndrome |
| 776204008 | Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
| 776416004 | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome |
| 777998000 | Temtamy preaxial brachydactyly syndrome |
| 778000002 | 3q26q27 microdeletion syndrome |
| 778007004 | 12p12.1 microdeletion syndrome |
| 778009001 | Blepharophimosis, intellectual disability syndrome, Verloes type |
| 778012003 | Temple syndrome |
| 778023004 | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency |
| 778025006 | Atypical hypotonia cystinuria syndrome |
| 778043005 | Ring chromosome 17 syndrome |
| 778044004 | Primary non-essential cutis verticis gyrata |
| 778073001 | 3q26 microduplication syndrome |
| 77956009 | Steinert myotonic dystrophy syndrome |
| 780827006 | Synaptic Ras GTPase activating protein 1- related intellectual disability |
| 782669004 | 10q22.3q23.3 microduplication syndrome |
| 782673001 | Distal monosomy 4q |
| 782674007 | Distal monosomy 7p syndrome |
| 782690007 | Gemignani syndrome |
| 782694003 | Non-distal monosomy 12q |
| 782696001 | Recessive mitochondrial ataxia syndrome |
| 782718007 | Dystonia aphonia syndrome |
| 782719004 | Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency |
| 782720005 | Congenital pontocerebellar hypoplasia type 10 |
| 782721009 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency |
| 782722002 | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome |
| 782725000 | Autosomal recessive spastic paraplegia type 69 |
| 782726004 | Autosomal recessive spastic paraplegia type 71 |
| 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 |
| 782757004 | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
| 782825008 | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
| 782828005 | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
| 782879004 | Occipital pachygyria and polymicrogyria |
| 782884005 | Pontine tegmental cap dysplasia |
| 782887003 | Inherited congenital spastic tetraplegia |
| 782911008 | Hereditary cryohydrocytosis with reduced stomatin |
| 782914000 | Brachydactyly, short stature, retinitis pigmentosa syndrome |
| 782918002 | 2-aminoadipic 2-oxoadipic aciduria |
| 782940006 | Dobrow syndrome |
| 782951006 | Thoracic dysplasia and hydrocephalus syndrome |
| 783064000 | Progressive myoclonic epilepsy type 3 |
| 783089006 | Macrocephaly, intellectual disability, autism syndrome |
| 783096008 | Subaortic stenosis and short stature syndrome |
| 783099001 | Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome |
| 783157004 | Leigh syndrome with nephrotic syndrome |
| 783164002 | Distal monosomy 20q syndrome |
| 783176002 | Congenital muscular dystrophy with cerebellar involvement |
| 783178001 | Combined oxidative phosphorylation deficiency type 20 |
| 783198006 | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation |
| 783203003 | Ataxia with tapetoretinal degeneration syndrome |
| 783558004 | Combined oxidative phosphorylation defect type 11 |
| 783622001 | Autosomal dominant spastic paraplegia type 38 |
| 783697000 | X-linked spastic paraplegia type 16 |
| 783719006 | Obesity due to SIM bHLH transcription factor 1 deficiency |
| 783722008 | Myopathy and diabetes mellitus |
| 783734000 | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency |
| 783742004 | Conductive hearing loss, malformation of external ear syndrome |
| 783764008 | Autosomal recessive spastic paraplegia type 56 |
| 783768006 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
| 784342008 | Familial infantile myoclonic epilepsy |
| 784343003 | Autosomal recessive spastic ataxia with leukoencephalopathy |
| 784344009 | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation |
| 784348007 | Familial congenital mirror movements |
| 785298001 | Muscle eye brain disease with bilateral multicystic leukodystrophy |
| 785299009 | Cobblestone lissencephaly without muscular or ocular involvement |
| 785300001 | Infantile-onset autosomal recessive non progressive cerebellar ataxia |
| 785302009 | Adult-onset autosomal recessive cerebellar ataxia |
| 785303004 | Multiple congenital anomalies, hypotonia, seizures syndrome |
| 785306007 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E |
| 785307003 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A |
| 785481000000107 | Greig cephalopolysyndactyly syndrome |
| 785726009 | Hyperekplexia epilepsy syndrome |
| 787037000 | Congenital muscular dystrophy type 1A |
| 787171006 | 21q22.11q22.12 microdeletion syndrome |
| 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
| 787175002 | Ankyrin 3 related intellectual disability, sleep disturbance syndrome |
| 787407003 | Muenke syndrome |
| 787411009 | Monosomy 22 syndrome |
| 788584007 | Blepharophimosis, intellectual disability syndrome |
| 789063000 | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome |
| 7903009 | Hallermann-Streiff syndrome |
| 791000124107 | 2-methyl-3-hydroxybutyric aciduria |
| 79935000 | Farber's lipogranulomatosis |
| 80544005 | Spongy degeneration of central nervous system |
| 806001 | Incontinentia pigmenti syndrome |
| 80887004 | Inherited methylmalonic acidemia AND homocystinuria |
| 80902009 | Neutral 1 amino acid transport defect |
| 813921000000104 | Spastic hemiplegic cerebral palsy |
| 81771002 | Opitz-Frias syndrome |
| 81854007 | Alexander disease |
| 82203000 | Treacher Collins syndrome |
| 82500001 | Wolman's disease |
| 82725007 | Progressive myositis ossificans |
| 829974003 | Mosaic trisomy 1 syndrome |
| 83015004 | Saethre-Chotzen syndrome |
| 83579008 | Mixed gonadal dysgenesis |
| 84781002 | Sporadic cretinism |
| 855581000000104 | Cowden syndrome |
| 860860004 | Glycogen storage disease type IXB |
| 86444004 | Niemann-Pick disease, type C, acute form |
| 864471000000106 | Anterior opercular syndrome |
| 866053004 | Middle interhemispheric variant of holoprosencephaly |
| 870305003 | Pervasive developmental disorder with cognitive developmental delay and marked impairment of functional language |
| 870308001 | Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language |
| 87607002 | Pelizaeus-Merzbacher disease, classic form |
| 87694001 | Pyruvate carboxylase deficiency |
| 87827003 | Isovaleryl-coenzyme A dehydrogenase deficiency |
| 879939002 | 14q32 deletion syndrome |
| 880079009 | 11p15 duplication syndrome |
| 880086001 | 12q24.31-q24.32 deletion syndrome |
| 880093002 | 17q11 deletion syndrome |
| 8808004 | Biotinidase deficiency |
| 88425004 | Congenital anomaly of nervous system |
| 88469006 | Zellweger syndrome |
| 885831000000109 | Choreoathetoid cerebral palsy |
| 890117001 | 20p12.2 deletion syndrome |
| 890124000 | 5q22.2 deletion syndrome |
| 890125004 | 7p12-p14 deletion syndrome |
| 890127007 | 7p21.1 deletion syndrome |
| 890233009 | Autosomal dominant Robinow syndrome |
| 890237005 | Autosomal recessive Robinow syndrome |
| 890287003 | Bilateral generalized polymicrogyria |
| 890288008 | Bilateral parasagittal parieto-occipital polymicrogyria |
| 890346002 | Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis |
| 890430009 | Complete agenesis of vermis |
| 890432001 | Cockayne syndrome type 3 |
| 8933000 | Crigler-Najjar syndrome, type I |
| 89444000 | Oromandibular-limb hypogenesis spectrum |
| 89454001 | Shwachman syndrome |
| 89647000 | Pyknodysostosis |
| 897507003 | Distal trisomy 9p |
| 897509000 | Distal trisomy 8p |
| 897510005 | Distal trisomy 3q |
| 897511009 | Distal trisomy 7q |
| 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 |
| 897536003 | Distal deletion of long arm of chromosome 3 |
| 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 |
| 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 |
| 897592003 | Congenital disorder of glycosylation type 1i |
| 904531000000100 | Bilateral spastic cerebral palsy |
| 9273005 | Juvenile polyposis syndrome |
| 928221000000103 | Birth to 25 education, health and care plan-based care started |
| 92824003 | Neurofibromatosis type 1 |
| 928241000000105 | Birth to 25 education, health and care plan-based care stopped |
| 92978002 | Congenital absence of thyroid gland |
| 938161000000101 | Lysinuric protein intolerance |
| 9740002 | Macroencephaly |