Learning disability (LD) codes
Codelist metadata
-
Coding system
- SNOMED CT
-
Coding system release
- 39.2.0
-
Organisation
- NHSD Primary Care Domain Refsets
-
Codelist ID
- nhsd-primary-care-domain-refsets/ld_cod
-
Version Tag
- 20241205
-
Version ID
- 096ed347
Versions
About
Description
Taken from the LD_COD refset published by NHSD.
We are aware that some of the individual codes contained in this codelist are offensive and upsetting. Although these terms are outdated and no longer in routine use, it is necessary to include them in codelists due to the historic nature of the data that is being analysed. Excluding these terms would reduce the completeness of the data and may mean that some people with a learning disability are not included in the analyses.
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 | Kohlschutter's 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 |
| 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 |
| 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 |
| 74263009 | Carpenter syndrome |
| 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 deficiency |
| 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 related 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 |
Codes not in the full codelist are in faint grey.