Learning disability (LD) codes
Metadata
- Coding system
- SNOMED CT (UK Clinical Edition)
- Coding system release
- 41.0.0
- Organisation
- NHSD Primary Care Domain Refsets
- Codelist ID
- nhsd-primary-care-domain-refsets/ld_cod
- Version Tag
- 20250912
- Version ID
- 05002aa9
- Number of codes included
- 709
About
Description
Taken from the `LD_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/).
References
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 |
| 1003367004 | Molybdenum cofactor deficiency complementation group A |
| 1003368009 | Molybdenum cofactor deficiency complementation group B |
| 1003370000 | Microphthalmos due to Fryns syndrome |
| 1003373003 | Microcephaly with simplified gyral pattern |
| 1003374009 | Microlissencephaly |
| 1003387003 | Molybdenum cofactor deficiency complementation group C |
| 1003389000 | Mosaic 1q duplication |
| 1003409002 | Maternal 15q11q13 deletion |
| 1010630006 | X-linked complicated corpus callosum dysgenesis |
| 1089701000000105 | Profound intellectual development disorder without impairment of behaviour |
| 1089711000000107 | Profound intellectual development disorder with significant impairment of behaviour |
| 1089721000000101 | Profound intellectual development disorder with minimal impairment of behaviour |
| 1089731000000104 | Profound intellectual development disorder with impairment of behaviour |
| 1089741000000108 | Severe intellectual development disorder without significant impairment of behaviour |
| 1089751000000106 | Severe intellectual development disorder with significant impairment of behaviour |
| 1089761000000109 | Severe intellectual development disorder with minimal impairment of behaviour |
| 1089771000000102 | Severe intellectual development disorder with impairment of behaviour |
| 1089781000000100 | Moderate intellectual development disorder without significant impairment of behaviour |
| 1089791000000103 | Moderate intellectual development disorder with significant impairment of behaviour |
| 1089811000000102 | Moderate intellectual development disorder with minimal impairment of behaviour |
| 1089821000000108 | Moderate intellectual development disorder with impairment of behaviour |
| 1089831000000105 | Mild intellectual development disorder without significant impairment of behaviour |
| 1089841000000101 | Mild intellectual development disorder with significant impairment of behaviour |
| 1089851000000103 | Mild intellectual development disorder with minimal impairment of behaviour |
| 1093991000000101 | Mild intellectual development disorder with impairment of behaviour |
| 1094001000000106 | Intellectual development disorder without significant impairment of behaviour |
| 1094011000000108 | Intellectual development disorder with significant impairment of behaviour |
| 1094021000000102 | Intellectual development disorder with minimal impairment of behaviour |
| 1094031000000100 | Intellectual development disorder with impairment of behaviour |
| 109478007 | Amelocerebrohypohidrotic syndrome |
| 110359009 | Intellectual disability |
| 111303009 | Sjögren-Larsson syndrome |
| 111502003 | Fukuyama congenital muscular dystrophy |
| 111504002 | Walker-Warburg congenital muscular dystrophy |
| 1141661004 | Neurocutaneous melanosis |
| 1156584007 | X-linked intellectual disability hypotonic face syndrome |
| 1167375003 | Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
| 1169355000 | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
| 1172586007 | Ocular anomalies, axonal neuropathy, developmental delay syndrome |
| 1172626003 | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
| 1172628002 | TBC1 domain containing kinase-related intellectual disability syndrome |
| 1172629005 | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
| 1172630000 | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
| 1172691004 | Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome |
| 1172697000 | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
| 1172698005 | Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome |
| 1177167002 | Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
| 1179301003 | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome |
| 1179408008 | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome |
| 1186713004 | Growth delay, intellectual disability, hepatopathy syndrome |
| 1186729007 | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome |
| 1187038009 | Non-specific syndromic intellectual disability |
| 1187041000 | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome |
| 1187042007 | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
| 1187043002 | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome |
| 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 |
| 1187114007 | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome |
| 1187171005 | Solute carrier family 39 member 8 congenital disorder of glycosylation |
| 1187210007 | Intellectual disability, epilepsy, extrapyramidal syndrome |
| 1187247007 | WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome |
| 1187249005 | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy |
| 1187277001 | Short stature, brachydactyly, obesity, global developmental delay syndrome |
| 1187278006 | Spastic paraplegia, severe developmental delay, epilepsy syndrome |
| 1187303004 | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
| 1187304005 | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
| 1187470001 | Autosomal recessive spastic paraplegia type 75 |
| 1197052008 | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria |
| 1197148005 | Sanjad Sakati syndrome |
| 1197588008 | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
| 1197591008 | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
| 1208341008 | Severe oculo-renal-cerebellar syndrome |
| 1208344000 | Fryns Smeets Thiry syndrome |
| 1208481000 | Progressive cerebello-cerebral atrophy |
| 1208488006 | Special AT-rich sequence-binding protein 2-associated syndrome |
| 1208987006 | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome |
| 1217228004 | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
| 1217229007 | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
| 1220589007 | Keppen Lubinsky syndrome |
| 1220594007 | Pierpont syndrome |
| 1220597000 | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
| 1222656005 | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy |
| 1222657001 | Prune exopolyphosphatase 1-related neurological syndrome |
| 1222672002 | 3-methylglutaconic aciduria type 9 |
| 1222706005 | Anterior maxillary protrusion, strabismus, intellectual disability syndrome |
| 1222710008 | Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
| 1228886008 | 9q33.3q34.11 microdeletion syndrome |
| 1229873009 | 17q24.2 microdeletion syndrome |
| 1229875002 | 9q21.13 microdeletion syndrome |
| 1229891004 | 20q11.2 microdeletion syndrome |
| 1229895008 | 8q24.3 microdeletion syndrome |
| 1229946007 | MAGE family member L2-related Prader-Willi-like syndrome |
| 1230376005 | Contactin associated protein 2-related developmental and epileptic encephalopathy |
| 1236843008 | Phosphodiesterase 4D haploinsufficiency syndrome |
| 1237418002 | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
| 1237420004 | X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
| 1237421000 | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
| 1237619001 | Fatty acyl-coenzyme A reductase 1 deficiency |
| 1237623009 | Congenital insensitivity to pain with severe intellectual disability |
| 1239331000000100 | Significant intellectual disability |
| 1251453008 | Lamb Shaffer syndrome |
| 1254650002 | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
| 1254654006 | X-linked intellectual disability, hypotonia, movement disorder syndrome |
| 1255319004 | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
| 1255335006 | X-linked intellectual disability, short stature, overweight syndrome |
| 1258972007 | Baraitser Winter cerebrofrontofacial syndrome |
| 1260095004 | Menke Hennekam syndrome |
| 1260097007 | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome |
| 1260128008 | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect |
| 1260143005 | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
| 1260195002 | Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder |
| 1260390003 | Dystonia due to Lesch Nyhan syndrome |
| 1260450002 | Infantile multisystem neurologic, endocrine, pancreatic disease |
| 1269224009 | Craniosynostosis, microretrognathia, severe intellectual disability syndrome |
| 1269233006 | Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome |
| 1295485009 | Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome |
| 1295529002 | Xp21 deletion syndrome |
| 1299154002 | Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome |
| 1300131002 | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance |
| 1300132009 | Clark Baraitser syndrome |
| 1300133004 | Kelch like family member 7-related Bohring Opitz-like syndrome |
| 1300188000 | Congenital pontocerebellar hypoplasia type 11 |
| 1300192007 | Congenital pontocerebellar hypoplasia type 14 |
| 1300198006 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome |
| 1393001 | Lenz-Majewski hyperostosis syndrome |
| 14091009 | 12p partial trisomy syndrome |
| 17827007 | Cross syndrome |
| 205615000 | Trisomy 21- meiotic nondisjunction |
| 205616004 | Trisomy 21- mitotic nondisjunction mosaicism |
| 205699007 | Klinefelter's syndrome, XXYY |
| 21111006 | Complete trisomy 13 syndrome |
| 21634003 | Borjeson-Forssman-Lehmann syndrome |
| 230312006 | Aicardi Goutieres syndrome |
| 230418006 | Lennox-Gastaut syndrome |
| 230782004 | Dysequilibrium syndrome |
| 232059000 | Laurence-Moon syndrome |
| 234146006 | Hennekam lymphangiectasia-lymphedema syndrome |
| 23501004 | Arginase deficiency |
| 237614004 | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency |
| 237961001 | L-2-hydroxyglutaric aciduria |
| 238026007 | Infantile GM1 gangliosidosis |
| 238047006 | Beta-D-mannosidosis |
| 238048001 | Alpha-N-acetylgalactosaminidase deficiency |
| 238051008 | Sialuria |
| 238069004 | Acyl-coenzyme A oxidase deficiency |
| 238905009 | Encephalocraniocutaneous lipomatosis |
| 239031000 | Orofacial-digital syndrome IV |
| 239032007 | Berlin syndrome |
| 24308003 | Cystathionine beta-synthase deficiency |
| 253133004 | Hydrocephalus with anomaly of aqueduct of Sylvius |
| 253176002 | Gillespie syndrome |
| 254099008 | Desbuquois syndrome |
| 254123002 | Dysosteosclerosis |
| 254264002 | Partial trisomy 21 in Down's syndrome |
| 254268004 | Partial trisomy 13 in Patau's syndrome |
| 270890001 | Deletion of short arm of chromosome 18 |
| 275263003 | Klinefelter's syndrome XXXY |
| 275264009 | Klinefelter's syndrome XXXXY |
| 29352008 | Thanatophoric dysplasia |
| 29692004 | Combined molybdoflavoprotein enzyme deficiency |
| 297233004 | 3-Methylglutaconic aciduria type 4 |
| 297256008 | Glycerol kinase deficiency - isolated |
| 3073006 | Ruvalcaba syndrome |
| 31216003 | Profound intellectual disability |
| 31220004 | Cobalamin D disease |
| 34566007 | Sialic acid storage disease, severe infantile type |
| 35691006 | Combined deficiency of sialidase AND beta galactosidase |
| 360943000 | Deficiency of carnosinase |
| 371045000 | Translocation Down syndrome |
| 38847009 | XXXXY syndrome |
| 389157002 | Thanatophoric dysplasia, type 1 |
| 389158007 | Thanatophoric dysplasia, type 2 |
| 401046009 | Nicolaides-Baraitser syndrome |
| 401315004 | Smith-Magenis syndrome |
| 40291001 | Mietens syndrome |
| 40354009 | De Lange syndrome |
| 403554008 | Oculocerebrocutaneous syndrome |
| 403760006 | XXYY syndrome |
| 403770008 | Cardio-facio-cutaneous syndrome |
| 403782004 | Ichthyosis follicularis with alopecia and photophobia |
| 403838000 | Jung syndrome |
| 40700009 | Severe intellectual disability |
| 41040004 | Complete trisomy 21 syndrome |
| 412787009 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth |
| 416075005 | On learning disability register |
| 419097006 | Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency |
| 4199009 | 18p partial trisomy syndrome |
| 422437002 | X-linked intellectual disability with marfanoid habitus |
| 43916004 | Mucopolysaccharidosis type VII |
| 43929004 | Smith-Lemli-Opitz syndrome |
| 4409006 | Adenosylcobalamin and methylcobalamin synthesis defect |
| 441944007 | Oto-onycho-peroneal syndrome |
| 442511009 | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome |
| 45582004 | Rubinstein-Taybi syndrome |
| 4887000 | Hypertyrosinemia, Richner-Hanhart type |
| 49748000 | Succinate-semialdehyde dehydrogenase deficiency |
| 508171000000105 | Severe learning disability |
| 51500006 | Complete trisomy 18 syndrome |
| 54036001 | Oto-palato-digital syndrome, type I |
| 54954004 | Aspartylglucosaminuria |
| 56604005 | Cohen syndrome |
| 57917004 | Seckel syndrome |
| 58112007 | Mannosidosis, type II |
| 58256000 | Dihydropteridine reductase deficiency |
| 59252009 | de Barsey syndrome |
| 59636002 | Pelizaeus-Merzbacher disease, connatal variant |
| 61152003 | Moderate intellectual disability |
| 62311004 | Mannosidosis, type I |
| 62985007 | Hereditary insensitivity to pain with anhidrosis |
| 63247009 | Williams syndrome |
| 64716005 | Fucosidosis |
| 65327002 | Mucopolysaccharidosis type I-H |
| 65524005 | Mannosidosis |
| 66351003 | Fetal trimethadione syndrome |
| 66758006 | Acrodysostosis |
| 66937008 | Glycogen storage disease, type III |
| 68618008 | Rett syndrome |
| 698290008 | X-linked creatine deficiency |
| 699298009 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type |
| 699306003 | Chromosome 1p36 deletion syndrome |
| 699316006 | Myhre syndrome |
| 699669001 | Renpenning syndrome |
| 70173007 | 5p partial monosomy syndrome |
| 702327009 | Monocarboxylate transporter 8 deficiency |
| 702344008 | Pitt-Hopkins syndrome |
| 702354007 | X-linked intellectual developmental disorder Christianson type |
| 702356009 | X-linked intellectual disability-psychosis-macroorchidism syndrome |
| 702357000 | Chromosome 2q37 deletion syndrome |
| 702367005 | Genitopatellar syndrome |
| 702379005 | Hypomyelination and congenital cataract |
| 702412005 | X-linked intellectual deficit-dystonia-dysarthria syndrome |
| 702416008 | X-linked intellectual disability Snyder type |
| 702418009 | Diaphragmatic hernia-exomphalos-hypertelorism syndrome |
| 702432006 | Diaphragmatic hernia, abnormal face and distal limb anomalies |
| 702433001 | Congenital cataracts, facial dysmorphism and neuropathy |
| 702439002 | Agenesis of corpus callosum with peripheral neuropathy |
| 702816000 | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome |
| 703389002 | Calcium/calmodulin-dependent serine protein kinase related intellectual disability |
| 703526007 | Progressive epilepsy-intellectual disability syndrome Finnish type |
| 707276009 | Hoyeraal-Hreidarsson syndrome |
| 709490002 | Desmosterolosis |
| 711543008 | Mandibulofacial dysostosis with microcephaly |
| 715342005 | Alpha thalassemia X-linked intellectual disability syndrome |
| 715369006 | Autosomal recessive cerebelloparenchymal disorder type 3 |
| 715409005 | Trigonocephaly C syndrome |
| 715427008 | Acromelic frontonasal dysplasia |
| 715428003 | Skeletal dysplasia with epilepsy and short stature syndrome |
| 715438008 | Distal partial deletion of long arm of chromosome 11 |
| 715441004 | McDonough syndrome |
| 715462003 | Microcephalus co-occurrent with cervical spine fusion anomaly |
| 715464002 | Microcephalus microcornea syndrome of Seemanova type |
| 715482004 | Microcephalic primordial dwarfism of Toriello type |
| 715487005 | Autosomal recessive distal osteolysis syndrome |
| 715491000 | Autosomal recessive spastic paraplegia type 11 |
| 715533002 | Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome |
| 715628009 | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome |
| 715951007 | Acrocallosal syndrome |
| 715980003 | Encephalopathy due to sulfite oxidase deficiency |
| 715981004 | Autosomal recessive primary microcephaly |
| 715983001 | Ring chromosome 8 syndrome |
| 715989002 | Congenital cataract with intellectual disability and anal atresia and urinary defect 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 |
| 716096005 | Hypospadias and intellectual disability syndrome Goldblatt type |
| 716107009 | Early onset parkinsonism and intellectual disability syndrome |
| 716108004 | Macrocephaly with spastic paraplegia and dysmorphism syndrome |
| 716112005 | Microcephaly with deafness and intellectual disability syndrome |
| 716174001 | Oculocerebral hypopigmentation syndrome of Preus type |
| 716189005 | Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome |
| 716191002 | Alopecia and intellectual disability syndrome |
| 716200002 | Arginine vasopressin resistance, intracranial calcification, short stature, facial dysmorphism syndrome |
| 716334004 | Intellectual disability and short stature with hand contracture and genital anomaly syndrome |
| 716381003 | 8p23.1 microdeletion syndrome |
| 716387004 | 2q31.1 microdeletion syndrome |
| 716456000 | 3q29 microdeletion syndrome |
| 716515000 | 1q41q42 microdeletion syndrome |
| 716683005 | 17q21.31 microduplication syndrome |
| 716862002 | Proteus like syndrome |
| 716996008 | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome |
| 716997004 | Joubert syndrome |
| 716998009 | Joubert syndrome with ocular defect |
| 716999001 | Joubert syndrome with renal defect |
| 717049005 | Trisomy 17p |
| 717157006 | Trisomy 10p |
| 717181004 | Hyperprolinemia type 2 |
| 717222003 | Microphthalmia with ankyloblepharon and intellectual disability syndrome |
| 717335009 | Mosaic trisomy 8 syndrome |
| 717338006 | Koolen De Vries syndrome |
| 717632002 | X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome |
| 717633007 | Distal monosomy 1q syndrome |
| 717763008 | Chudley Lowry Hoar syndrome |
| 717822006 | Goldberg Shprintzen megacolon syndrome |
| 717824007 | Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome |
| 717887003 | Biemond syndrome type 2 |
| 717945001 | Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome |
| 717977003 | Lissencephaly syndrome Norman Roberts type |
| 718188007 | 8p inverted duplication deletion syndrome |
| 718189004 | Recombinant chromosome 8 syndrome |
| 718212006 | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation |
| 718226002 | Wolf Hirschhorn syndrome |
| 718228001 | Fetal iodine syndrome |
| 718393002 | Atypical Rett syndrome |
| 718556007 | Cranio-cerebello-cardiac dysplasia syndrome |
| 718558008 | Mevalonic aciduria |
| 718573009 | Achalasia microcephaly syndrome |
| 718577005 | X-linked intellectual disability Atkin type |
| 718615003 | 8q21.11 microdeletion syndrome |
| 718680001 | Oro-facial digital syndrome type 9 |
| 718681002 | Oro-facial digital syndrome type 11 |
| 718687003 | Distal monosomy 10q syndrome |
| 718688008 | Distal monosomy 6p |
| 718766002 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome |
| 718845002 | X-linked intellectual disability with ataxia and apraxia syndrome |
| 718846001 | X-linked intellectual disability Zorick type |
| 718847005 | X-linked neurodegenerative syndrome Hamel type |
| 718848000 | Fried syndrome |
| 718849008 | X-linked neurodegenerative syndrome Bertini type |
| 718880003 | Zellweger-like syndrome without peroxisomal anomaly |
| 718881004 | Chromosome Xq27.3q28 duplication syndrome |
| 718897009 | X-linked intellectual disability Seemanova type |
| 718900002 | Syndromic X-linked intellectual disability type 11 |
| 718905007 | X-linked intellectual disability Shrimpton type |
| 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 |
| 718912003 | X-linked intellectual disability Turner type |
| 718914002 | X-linked intellectual disability Van Esch type |
| 719009006 | X-linked intellectual disability Wilson type |
| 719010001 | X-linked intellectual disability Schimke type |
| 719011002 | X-linked intellectual disability Pai type |
| 719012009 | X-linked intellectual disability Miles Carpenter type |
| 719013004 | X-linked intellectual disability Cilliers type |
| 719016007 | X-linked intellectual disability Cantagrel type |
| 719017003 | X-linked intellectual disability Armfield type |
| 719018008 | X-linked intellectual disability Abidi type |
| 719020006 | Pallister W syndrome |
| 719043002 | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus |
| 719046005 | 12q14 microdeletion syndrome |
| 719047001 | 14q11.2 microdeletion syndrome |
| 719069008 | Shprintzen Goldberg craniosynostosis syndrome |
| 719097002 | Branchioskeletogenital syndrome |
| 719102004 | Congenital cataract with ataxia and deafness syndrome |
| 719136005 | X-linked intellectual disability with cerebellar hypoplasia syndrome |
| 719137001 | X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis 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 |
| 719156006 | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome |
| 719157002 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome |
| 719160009 | Syndromic X-linked intellectual disability type 7 |
| 719161008 | Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation |
| 719162001 | Radioulnar synostosis with microcephaly and scoliosis syndrome |
| 719212004 | Smith Fineman Myers syndrome |
| 719378009 | Microcephalus with brachydactyly and kyphoscoliosis syndrome |
| 719380003 | Microcephalus cardiomyopathy syndrome |
| 719396000 | Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
| 719403003 | Leukoencephalopathy co-occurrent with bilateral anterior temporal lobe cysts |
| 719427001 | 15q11q13 microduplication syndrome |
| 719450007 | Disorder of sex development with intellectual disability syndrome |
| 719574007 | 14q12 microdeletion syndrome |
| 719575008 | 15q14 microdeletion syndrome |
| 719576009 | 16p11.2p12.2 microdeletion syndrome |
| 719577000 | 16p13.11 microdeletion syndrome |
| 719599008 | 19q13.11 microdeletion syndrome |
| 719600006 | 1p21.3 microdeletion syndrome |
| 719646006 | 8p11.2 deletion syndrome |
| 719649004 | 1q44 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 |
| 719665003 | 5q35 microduplication syndrome |
| 719666002 | 6q terminal deletion syndrome |
| 719686003 | Distal monosomy 10p |
| 719688002 | Multiple epiphyseal dysplasia Al-Gazali type |
| 719800009 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
| 719808002 | Chromosome Xp11.3 microdeletion syndrome |
| 719810000 | X-linked intellectual disability with seizure and psoriasis syndrome |
| 719811001 | X-linked intellectual disability Cabezas type |
| 719812008 | X-linked intellectual disability with plagiocephaly syndrome |
| 719819004 | Xeroderma pigmentosum and Cockayne syndrome complex |
| 719824001 | Vici syndrome |
| 719825000 | X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
| 719826004 | X-linked intellectual disability with acromegaly and hyperactivity syndrome |
| 719834005 | Wilson Turner syndrome |
| 719909009 | Chromosome Xq28 trisomy |
| 719947004 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome |
| 720401009 | Cystic fibrosis with gastritis and megaloblastic anemia syndrome |
| 720408003 | Acrofrontofacionasal dysostosis |
| 720419000 | Acrofacial dysostosis Catania type |
| 720468000 | Aniridia and intellectual disability syndrome |
| 720517001 | Ataxia with deafness and intellectual disability syndrome |
| 720520009 | Attenuated Chédiak-Higashi syndrome |
| 720523006 | Autosomal recessive limb girdle muscular dystrophy type 2K |
| 720635002 | Cerebro-facio-thoracic dysplasia |
| 720639008 | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome |
| 720748007 | Aural atresia with multiple congenital anomalies and intellectual disability syndrome |
| 720815000 | Capra DeMarco syndrome |
| 720851007 | Chondrodysplasia with disorder of sex development syndrome |
| 720941007 | Asparagine-linked glycosylation 1 congenital disorder of glycosylation |
| 720954000 | Filippi syndrome |
| 720955004 | Fine Lubinsky syndrome |
| 720957007 | Deafness with skeletal dysplasia and lip granuloma syndrome |
| 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 |
| 720987001 | Aniridia, ptosis, intellectual disability, familial obesity syndrome |
| 721007005 | Hair defect with photosensitivity and intellectual disability syndrome |
| 721008000 | Hall Riggs syndrome |
| 721017000 | Postaxial polydactyly and intellectual disability syndrome |
| 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 |
| 721092005 | Developmental malformation, deafness, dystonia syndrome |
| 721099001 | Adult polyglucosan body disease |
| 721146009 | Intellectual disability, epilepsy, bulbous nose syndrome |
| 721147000 | Hidrotic ectodermal dysplasia Halal type |
| 721207002 | Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
| 721208007 | Ectodermal dysplasia with blindness syndrome |
| 721224008 | Holmes Gang syndrome |
| 721231007 | Hydrocephalus with obesity and hypogonadism syndrome |
| 721841001 | Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
| 721847002 | Joubert syndrome with congenital hepatic fibrosis |
| 721862000 | Joubert syndrome with oculorenal defect |
| 721875000 | Juberg Marsidi syndrome |
| 721881008 | Microduplication Xp11.22p11.23 syndrome |
| 721973006 | Lipodystrophy, intellectual disability, deafness syndrome |
| 722002002 | Intellectual disability, balding, patella luxation, acromicria syndrome |
| 722003007 | Intellectual disability with cataract and kyphosis syndrome |
| 722031003 | Kapur Toriello syndrome |
| 722033000 | Macrocephaly, short stature, paraplegia syndrome |
| 722035007 | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome |
| 722037004 | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome |
| 722055008 | Oculopalatocerebral syndrome |
| 722056009 | Oculocerebrofacial syndrome Kaufman type |
| 722065002 | Okamoto syndrome |
| 722110003 | Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
| 722111004 | Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome |
| 722209002 | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
| 722213009 | Severe X-linked intellectual disability Gustavson type |
| 722231005 | Perlman syndrome |
| 722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
| 722375007 | Bamforth Lazarus 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 |
| 722385008 | Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome |
| 722451006 | Gomez Lopez Hernandez 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 |
| 722458000 | Matthew Wood syndrome |
| 722459008 | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome |
| 722478008 | Skeletal dysplasia with intellectual disability syndrome |
| 723304001 | Microcephaly, seizure, intellectual disability, heart disease syndrome |
| 723332005 | Isodicentric chromosome 15 syndrome |
| 723333000 | Faciocardiorenal syndrome |
| 723336008 | Fallot complex with intellectual disability and growth delay syndrome |
| 723403008 | Microbrachycephaly, ptosis, cleft lip syndrome |
| 723410002 | N syndrome |
| 723441001 | Non-progressive cerebellar ataxia with intellectual disability |
| 723501008 | Renier Gabreels Jasper syndrome |
| 723504000 | Ramos Arroyo syndrome |
| 723676007 | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
| 723824005 | Autosomal recessive spastic paraplegia type 54 |
| 723994004 | Seizures and intellectual disability due to hydroxylysinuria syndrome |
| 724001005 | Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
| 724070005 | Paternal 20q13.2q13.3 microdeletion syndrome |
| 724091002 | Neuroectodermal melanolysosomal disease |
| 724096007 | Congenital disorder of glycosylation type 1f |
| 724098008 | Monosomy 9q22.3 syndrome |
| 724174003 | Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome |
| 724207001 | Kleefstra syndrome |
| 724228005 | Infantile choroidocerebral calcification syndrome |
| 724385009 | Growth delay due to insulin-like growth factor type 1 deficiency |
| 725029001 | Frontonasal dysplasia with alopecia and genital anomaly syndrome |
| 725140007 | Temple Baraitser syndrome |
| 725163002 | X-linked spasticity, intellectual disability, epilepsy syndrome |
| 725289009 | 5-amino-4-imidazole carboxamide ribosiduria |
| 725296006 | Mucolipidosis type IV |
| 725461009 | Microcephalic osteodysplastic primordial dwarfism types I and III |
| 725906006 | Intellectual disability Buenos Aires type |
| 725908007 | Neurofaciodigitorenal syndrome |
| 725912001 | X-linked intellectual disability Brooks type |
| 726031001 | Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome |
| 726606003 | Autosomal recessive spastic paraplegia type 32 |
| 726670008 | Weaver Williams syndrome |
| 726709001 | Intellectual disability, cataract, calcified pinna, myopathy syndrome |
| 726723004 | Ring chromosome 13 syndrome |
| 726727003 | X-linked intellectual disability Hedera type |
| 726732002 | X-linked intellectual disability Nascimento type |
| 732246009 | X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency |
| 732251003 | Cortical blindness, intellectual disability, polydactyly syndrome |
| 73284007 | Marshall-Smith syndrome |
| 732932004 | Autosomal recessive spastic paraplegia type 18 |
| 732954002 | Osteopenia, intellectual disability, sparse hair syndrome |
| 732961003 | Branchial dysplasia, intellectual disability, inguinal hernia syndrome |
| 733031004 | Epilepsy, microcephaly, skeletal dysplasia syndrome |
| 733032006 | Epilepsy telangiectasia syndrome |
| 733037000 | German syndrome |
| 733044009 | Dermatoleukodystrophy |
| 733049004 | Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
| 733072002 | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
| 733085004 | Congenital disorder of glycosylation type 1p |
| 733086003 | Pseudoprogeria syndrome |
| 733089005 | Spastic paraplegia, nephritis, deafness syndrome |
| 733090001 | Microcephalus, digital anomaly, intellectual disability 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 |
| 733115009 | Congenital disorder of glycosylation type 1y |
| 733117001 | Thumb stiffness, brachydactyly, intellectual disability syndrome |
| 733417008 | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
| 733419006 | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
| 733450008 | Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 |
| 733455003 | Spastic paraplegia, glaucoma, intellectual disability syndrome |
| 733520002 | 20q13.33 microdeletion syndrome |
| 733522005 | Megalocornea with intellectual disability syndrome |
| 733601006 | Congenital disorder of glycosylation type 1q |
| 733605002 | XY type gonadal dysgenesis with associated anomalies syndrome |
| 733625003 | 48,XYYY syndrome |
| 734016004 | 17p11.2 microduplication syndrome |
| 734017008 | Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
| 734028007 | 49,XYYYY syndrome |
| 734029004 | Distal 22q11.2 microdeletion syndrome |
| 734349003 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
| 74008005 | Partial trisomy of short arm of chromosome 5 |
| 74653006 | Cobalamin C disease |
| 763136000 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
| 763186006 | Grubben, De Cock, Borghgraef syndrome |
| 763278004 | Facial dysmorphism, cleft palate, loose skin syndrome |
| 763320005 | Craniofaciofrontodigital syndrome |
| 763344007 | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
| 763350002 | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
| 763404001 | Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome |
| 763529005 | Distal monosomy 7q36 syndrome |
| 763530000 | Distal monosomy 9p syndrome |
| 763615003 | Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome |
| 763618001 | Wiedemann Steiner syndrome |
| 763626009 | Intellectual disability due to nutritional deficiency |
| 763665007 | Craniodigital syndrome and intellectual disability syndrome |
| 763717004 | Sporadic fetal brain disruption sequence |
| 763722004 | Hypotonia, speech impairment, severe cognitive delay syndrome |
| 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 |
| 763773007 | Macrocephaly and developmental delay syndrome |
| 763795006 | Malan overgrowth syndrome |
| 763797003 | Agenesis of corpus callosum and abnormal genitalia syndrome |
| 763860004 | Otofaciocervical syndrome |
| 763861000 | Pachygyria, intellectual disability, epilepsy syndrome |
| 764455002 | Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
| 764466009 | Mosaic trisomy 14 syndrome |
| 764711007 | Xq12-q13.3 duplication syndrome |
| 764861005 | Intellectual disability Birk-Barel type |
| 764950001 | Cryptorchidism, arachnodactyly, intellectual disability syndrome |
| 764959000 | Intellectual disability, myopathy, short stature, endocrine defect syndrome |
| 764989007 | Mosaic trisomy 9 syndrome |
| 765089003 | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
| 765142003 | Proximal 16p11.2 microduplication syndrome |
| 765325002 | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
| 765434008 | Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability |
| 765471005 | X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
| 765753004 | Autosomal recessive spastic paraplegia type 45 |
| 765758008 | Microcephalic primordial dwarfism Montreal type |
| 765761009 | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
| 766051001 | Distal trisomy 17q syndrome |
| 766716004 | Monosomy 13q34 syndrome |
| 766753005 | Nijmegen breakage syndrome-like disorder |
| 766760004 | Small ring X chromosome |
| 766870005 | Epiphyseal dysplasia, hearing loss, dysmorphism syndrome |
| 766871009 | Diencephalic mesencephalic junction dysplasia |
| 766874001 | Cono-spondylar dysplasia |
| 768473009 | Purine rich element binding protein A syndrome |
| 768677000 | Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability |
| 76880004 | Angelman syndrome |
| 768927001 | Trisomy 1q syndrome |
| 770401007 | 10q22.3q23.3 microdeletion syndrome |
| 770411000 | Distal monosomy 19p13.3 |
| 770564004 | Microcephalic primordial dwarfism Alazami type |
| 770566002 | Monosomy 13q14 syndrome |
| 770595006 | Ring chromosome 12 syndrome |
| 770663003 | Tetrasomy 11q24.1 |
| 770678005 | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome |
| 770679002 | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome |
| 770719004 | 3q27.3 microdeletion syndrome |
| 770750002 | Intellectual disability, seizures, macrocephaly, obesity syndrome |
| 770755007 | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
| 770901001 | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
| 770907002 | Kagami Ogata syndrome |
| 770908007 | 49,XXXYY syndrome |
| 770948004 | Rhizomelic syndrome Urbach type |
| 771072001 | Monosomy 9p |
| 771149000 | Hepatic fibrosis, renal cyst, intellectual disability syndrome |
| 771178004 | Edinburgh malformation syndrome |
| 771262009 | Pseudoleprechaunism syndrome Patterson type |
| 771336003 | Polymicrogyria with optic nerve hypoplasia |
| 771337007 | 1q21.1 microduplication syndrome |
| 771472009 | Developmental and speech delay due to SRY-box 5 deficiency |
| 771512003 | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency |
| 771516000 | Solute carrier family 35 member A2 congenital disorder of glycosylation |
| 772127009 | White Sutton syndrome |
| 772224009 | Warburg micro syndrome |
| 773230003 | Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy |
| 773274001 | X-linked intellectual disability, craniofacioskeletal syndrome |
| 773325004 | Distal 7q11.23 microduplication syndrome |
| 773329005 | CK syndrome |
| 773394007 | Autosomal recessive frontotemporal pachygyria |
| 773400009 | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome |
| 773405004 | Intellectual disability with strabismus syndrome |
| 773419004 | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome |
| 773498006 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency |
| 773581009 | Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
| 773587008 | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome |
| 773663004 | Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome |
| 773665006 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
| 773670004 | Distal Xq28 microduplication syndrome |
| 773699009 | Pitt Hopkins-like syndrome |
| 773769008 | Ataxia, photosensitivity, short stature syndrome |
| 773772001 | Rare non-syndromic intellectual disability |
| 774068004 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
| 778001003 | Potassium voltage-gated channel subfamily Q member 2 developmental and epileptic encephalopathy |
| 778005007 | Duplication of pituitary gland |
| 778011005 | Severe intellectual disability and progressive spastic paraplegia |
| 782676009 | Distal trisomy 18q |
| 782723007 | Severe intellectual disability, progressive spastic diplegia syndrome |
| 782736007 | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency |
| 782753000 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
| 782755007 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
| 782772000 | Congenital muscular dystrophy with intellectual disability and severe epilepsy |
| 782877002 | Xp22.13p22.2 duplication syndrome |
| 782886007 | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
| 782916003 | Dermotrichic syndrome |
| 782941005 | Richieri Costa-da Silva syndrome |
| 782945001 | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
| 783005002 | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
| 783060009 | Autosomal recessive cerebellar ataxia, psychomotor delay syndrome |
| 783061008 | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
| 783094006 | Autosomal recessive spastic paraplegia type 14 |
| 78311009 | Histidine transport defect |
| 78317008 | XXXY syndrome |
| 783174004 | Congenital muscular dystrophy with intellectual disability |
| 783619003 | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
| 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 |
| 783718003 | Paternal uniparental disomy of chromosome X |
| 783735004 | Maternal uniparental disomy of chromosome X |
| 784373007 | Beta-mercaptolactate cysteine disulfiduria |
| 784381008 | Autosomal recessive cutis laxa type 2A |
| 787093004 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
| 788417006 | Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
| 79385002 | Lowe syndrome |
| 80651009 | Aicardi's syndrome |
| 80734006 | Marinesco-Sjögren syndrome |
| 816067005 | Diabetes, hypogonadism, deafness, intellectual disability syndrome |
| 82699004 | Dyggve-Melchior-Clausen syndrome |
| 838441009 | Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome |
| 840505007 | Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis |
| 86765009 | Mild intellectual disability |
| 86997002 | Ring chromosome 10 syndrome |
| 870262000 | Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills |
| 870264004 | Pervasive developmental disorder with disorder of intellectual development and pervasive impairment of functional language without loss of previously acquired skills |
| 870265003 | Pervasive developmental disorder with disorder of intellectual development with loss of previously acquired skills |
| 870266002 | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills |
| 870267006 | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills |
| 870268001 | Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills |
| 870269009 | Pervasive developmental disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills |
| 870270005 | Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language with loss of previously acquired skills |
| 874931001 | Severe achondroplasia, developmental delay, acanthosis nigricans syndrome |
| 87607002 | Pelizaeus-Merzbacher disease, classic form |
| 879919001 | Bilateral megalencephaly |
| 879937000 | Alpha-N-acetylgalactosaminidase deficiency type 1 |
| 880065001 | Alpha-N-acetylgalactosaminidase deficiency type 2 |
| 880066000 | Alpha-N-acetylgalactosaminidase deficiency type 3 |
| 880081006 | 12q15 deletion syndrome |
| 88393000 | Sanfilippo syndrome |
| 8849004 | Uridine diphosphate glucose-4-epimerase deficiency |
| 890118006 | Mowat-Wilson syndrome due to monosomy 2q22 |
| 890123006 | 3p25.3 deletion syndrome |
| 890130000 | 9q34 deletion syndrome |
| 890221004 | Acrocardiofacial syndrome |
| 890285006 | Bilateral frontal polymicrogyria |
| 890286007 | Bilateral frontoparietal polymicrogyria |
| 890433006 | Cockayne syndrome type 1 |
| 890434000 | Cockayne syndrome type 2 |
| 89392001 | Prader-Willi syndrome |
| 931001000000105 | Significant learning disability |
| 9527009 | Tetrasomy 12p syndrome |
| 984661000000105 | Mild learning disability |
| 984671000000103 | Moderate learning disability |
| 984681000000101 | Profound learning disability |