Wider Learning Disability
Codelist metadata
-
Coding system
- SNOMED CT
-
Coding system release
- 36.0.0
-
Organisation
- PRIMIS Covid Vaccination Uptake Reporting
-
Codelist ID
- primis-covid19-vacc-uptake/learndis
-
Version Tag
- v2.5
-
Version ID
- 54df0bd1
Versions
About
Description
Taken from the LEARNDIS_COD field in SARS-CoV2 COVID19 Vaccination Uptake Reporting Codes 20_21 v1, published by PRIMIS.
© PRIMIS - the University of Nottingham 2021
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 Although these terms are outdated and no longer in routine use, it is necessary to include them in codelists due to the historic nature of the data that is being analysed.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 |
| 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 |
| 1156584007 | X-linked intellectual disability hypotonic face syndrome |
| 1162462009 | Angelman syndrome due to maternal monosomy 15q11q13 |
| 1167371007 | Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
| 1167375003 | Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
| 1169355000 | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
| 1169359006 | Tall stature, intellectual disability, renal anomalies syndrome |
| 1172594000 | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
| 1172624000 | Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome |
| 1172626003 | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
| 1172627007 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
| 1172629005 | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
| 1172630000 | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
| 1172685001 | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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 |
| 1172889005 | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
| 1172899000 | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome |
| 1173036000 | Combined oxidative phosphorylation defect type 23 |
| 1173998003 | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
| 1177167002 | Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
| 1177169004 | Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation |
| 1177175008 | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
| 1179282009 | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
| 1179283004 | Metopic ridging, ptosis, 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 |
| 1186711002 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome |
| 1186713004 | Growth delay, intellectual disability, hepatopathy syndrome |
| 1186721005 | Infantile inflammatory bowel disease with neurological involvement |
| 1186729007 | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome |
| 1186730002 | Gabriele-de Vries syndrome |
| 1186734006 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
| 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 |
| 1187114007 | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome |
| 1187122000 | Witteveen Kolk syndrome |
| 1187195007 | Microcephalic cortical malformations, short stature due to rotatin deficiency |
| 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 |
| 1187250005 | Seizures, scoliosis, macrocephaly syndrome |
| 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 |
| 1187642008 | Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
| 1187644009 | Basel Vanagaite Smirin Yosef syndrome |
| 1197148005 | Sanjad Sakati syndrome |
| 1197588008 | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
| 1197591008 | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
| 1197593006 | Intellectual disability, expressive aphasia, facial dysmorphism 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 |
| 1208614008 | Autosomal dominant deafness with onychodystrophy syndrome |
| 1208720000 | Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
| 1208727002 | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
| 1208746001 | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
| 1208936008 | Congenital ichthyosis, intellectual disability, spastic quadriplegia 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 |
| 1217371005 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
| 1217379007 | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
| 1217381009 | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
| 1217382002 | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
| 1220568003 | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
| 1220589007 | Keppen Lubinsky syndrome |
| 1220594007 | Pierpont syndrome |
| 1220597000 | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
| 1220600004 | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy |
| 1222656005 | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy |
| 1222657001 | Prune exopolyphosphatase 1-related neurological syndrome |
| 1222658006 | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies 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 |
| 1228890005 | 16p13.2 microdeletion syndrome |
| 1229872004 | Xq25 microduplication syndrome |
| 1229873009 | 17q24.2 microdeletion syndrome |
| 1229875002 | 9q21.13 microdeletion syndrome |
| 1229882003 | 11q22.2q22.3 microdeletion syndrome |
| 1229883008 | 19p13.3 microduplication syndrome |
| 1229891004 | 20q11.2 microdeletion syndrome |
| 1229895008 | 8q24.3 microdeletion syndrome |
| 1230273004 | Megaconial congenital muscular dystrophy |
| 1230376005 | Contactin associated protein 2-related developmental and epileptic encephalopathy |
| 1236807002 | Encephalopathy due to mitochondrial and peroxisomal fission defect |
| 1239331000000100 | Significant intellectual disability |
| 17827007 | Cross syndrome |
| 191689008 | Active infantile autism |
| 191690004 | Residual infantile autism |
| 191692007 | Active disintegrative psychoses |
| 191693002 | Residual disintegrative psychoses |
| 205615000 | Trisomy 21- meiotic nondisjunction |
| 205616004 | Trisomy 21- mitotic nondisjunction mosaicism |
| 205619006 | Trisomy 13, meiotic nondisjunction |
| 205620000 | Trisomy 13 - mitotic nondisjunction mosaicism |
| 205623003 | Trisomy 18 - meiotic nondisjunction |
| 205624009 | Trisomy 18 - mitotic nondisjunction mosaicism |
| 21111006 | Complete trisomy 13 syndrome |
| 21634003 | Borjeson-Forssman-Lehmann syndrome |
| 231536004 | Atypical autism |
| 232059000 | Laurence-Moon syndrome |
| 234146006 | Hennekam lymphangiectasia-lymphedema syndrome |
| 23560001 | Asperger's disorder |
| 236529001 | Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
| 253176002 | Gillespie syndrome |
| 254264002 | Partial trisomy 21 in Down's syndrome |
| 254266000 | Partial trisomy 18 in Edward's syndrome |
| 254268004 | Partial trisomy 13 in Patau's syndrome |
| 31216003 | Profound intellectual disability |
| 33982008 | Hyperphosphatasemia with intellectual disability |
| 35919005 | Pervasive developmental disorder |
| 371045000 | Translocation Down syndrome |
| 373618009 | Autistic spectrum disorder with isolated skills |
| 39951000119105 | Pervasive developmental disorder of residual state |
| 40700009 | Severe intellectual disability |
| 408856003 | Autistic disorder |
| 408857007 | Infantile autism |
| 41040004 | Complete trisomy 21 syndrome |
| 412787009 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth |
| 416075005 | On learning disability register |
| 422437002 | X-linked intellectual disability with marfanoid habitus |
| 432091002 | Savant syndrome |
| 43614003 | Autistic disorder of childhood onset |
| 442314000 | Active but odd autism |
| 508171000000105 | Severe learning disability |
| 51500006 | Complete trisomy 18 syndrome |
| 5619004 | Bardet-Biedl syndrome |
| 57917004 | Seckel syndrome |
| 59252009 | Cutis laxa-corneal clouding-oligophrenia syndrome |
| 61152003 | Moderate intellectual disability |
| 613003 | Fragile X syndrome |
| 68618008 | Rett's disorder |
| 699297004 | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type |
| 699298009 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type |
| 699316006 | Myhre syndrome |
| 699669001 | Renpenning 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 |
| 702412005 | X-linked intellectual deficit-dystonia-dysarthria syndrome |
| 702416008 | X-linked intellectual disability Snyder type |
| 702423009 | Deafness-dystonia-optic neuronopathy syndrome |
| 702441001 | Fatal X-linked ataxia with deafness and loss of vision |
| 702450004 | FOXG1 syndrome |
| 702732007 | High-functioning autism |
| 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 |
| 703535000 | Mowat-Wilson syndrome |
| 708037001 | Residual Asperger's disorder |
| 712884004 | Pathological demand avoidance |
| 715409005 | Trigonocephaly C syndrome |
| 715428003 | Skeletal dysplasia with epilepsy and short stature syndrome |
| 715441004 | McDonough syndrome |
| 715628009 | Intellectual disability, truncal obesity, retinal dystrophy and micropenis 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 |
| 716096005 | Hypospadias and intellectual disability syndrome Goldblatt type |
| 716107009 | Early onset parkinsonism and intellectual disability syndrome |
| 716112005 | Microcephaly with deafness and intellectual disability syndrome |
| 716191002 | Alopecia and intellectual disability syndrome |
| 716334004 | Intellectual disability and short stature with hand contracture and genital anomaly syndrome |
| 716706009 | Female restricted epilepsy with intellectual disability syndrome |
| 716709002 | FRAXE intellectual disability syndrome |
| 716996008 | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome |
| 717157006 | Trisomy 10p |
| 717222003 | Microphthalmia with ankyloblepharon and intellectual disability syndrome |
| 717223008 | X-linked epilepsy with learning disability and behavior disorder syndrome |
| 717822006 | Goldberg Shprintzen megacolon syndrome |
| 717887003 | Biemond syndrome type 2 |
| 717913006 | Blepharonasofacial malformation syndrome |
| 717945001 | Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome |
| 718226002 | Wolf Hirschhorn syndrome |
| 718393002 | Atypical Rett syndrome |
| 718573009 | Achalasia microcephaly syndrome |
| 718577005 | X-linked intellectual disability Atkin type |
| 718680001 | Oro-facial digital syndrome type 9 |
| 718681002 | Oro-facial digital syndrome type 11 |
| 718766002 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome |
| 718845002 | X-linked intellectual disability with ataxia and apraxia syndrome |
| 718847005 | X-linked neurodegenerative syndrome Hamel type |
| 718848000 | Fried syndrome |
| 718896000 | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome |
| 718897009 | X-linked intellectual disability Seemanova type |
| 718900002 | Syndromic X-linked intellectual disability type 11 |
| 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 |
| 719042007 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome |
| 719046005 | 12q14 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 |
| 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 |
| 719202006 | Spondyloepiphyseal dysplasia tarda Kohn type |
| 719378009 | Microcephalus with brachydactyly and kyphoscoliosis syndrome |
| 719380003 | Microcephalus cardiomyopathy syndrome |
| 719450007 | Disorder of sex development with intellectual disability syndrome |
| 719466009 | Cleft palate with short stature and vertebral anomaly syndrome |
| 719583002 | 17q11.2 microduplication syndrome |
| 719599008 | 19q13.11 microdeletion syndrome |
| 719600006 | 1p21.3 microdeletion syndrome |
| 71961003 | Childhood disintegrative disorder |
| 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 |
| 719825000 | X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
| 719826004 | X-linked intellectual disability with acromegaly and hyperactivity syndrome |
| 719834005 | Wilson Turner syndrome |
| 719842006 | Congenital hypoplasia of ulna and intellectual disability syndrome |
| 719947004 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome |
| 720401009 | Cystic fibrosis with gastritis and megaloblastic anemia syndrome |
| 720468000 | Aniridia and intellectual disability syndrome |
| 720501007 | Arachnodactyly with abnormal ossification and intellectual disability syndrome |
| 720502000 | Arachnodactyly and intellectual disability with facial dysmorphism syndrome |
| 720517001 | Ataxia with deafness and intellectual disability syndrome |
| 720573009 | Brachymorphism with onychodysplasia and dysphalangism syndrome |
| 720635002 | Cerebro-facio-thoracic dysplasia |
| 720639008 | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome |
| 720746006 | Contracture with ectodermal dysplasia and orofacial cleft syndrome |
| 720748007 | Aural atresia with multiple congenital anomalies and intellectual disability syndrome |
| 720825005 | Cystic leukoencephalopathy without megalencephaly |
| 720855003 | Cerebrooculonasal syndrome |
| 720954000 | Filippi syndrome |
| 720955004 | Fine Lubinsky syndrome |
| 720957007 | Deafness with skeletal dysplasia and lip granuloma syndrome |
| 720979002 | Alopecia, contracture, dwarfism, intellectual disability syndrome |
| 720981000 | Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome |
| 720982007 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
| 721007005 | Hair defect with photosensitivity and intellectual disability syndrome |
| 721008000 | Hall Riggs syndrome |
| 721017000 | Postaxial polydactyly and intellectual disability syndrome |
| 721073008 | Short stature with webbed neck and congenital heart disease 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 |
| 721146009 | Intellectual disability, epilepsy, bulbous nose syndrome |
| 721207002 | Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
| 721208007 | Ectodermal dysplasia with blindness syndrome |
| 721841001 | Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
| 721843003 | Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome |
| 721875000 | Juberg Marsidi syndrome |
| 721883006 | Radioulnar synostosis with developmental delay and hypotonia syndrome |
| 721973006 | Lipodystrophy, intellectual disability, deafness syndrome |
| 721974000 | Lowry MacLean 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 |
| 722075004 | Oro-facial digital syndrome type 10 |
| 722105002 | Oro-facial digital syndrome type 5 |
| 722106001 | Oro-facial digital syndrome type 8 |
| 722107005 | Ossification anomaly with psychomotor developmental delay syndrome |
| 722110003 | Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
| 722209002 | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
| 722213009 | Severe X-linked intellectual disability Gustavson type |
| 722281001 | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
| 722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
| 722287002 | Autism and facial port-wine stain syndrome |
| 722378009 | Congenital cataract with deafness and hypogonadism syndrome |
| 722379001 | Congenital cataract with hypertrichosis and intellectual disability syndrome |
| 722380003 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
| 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 |
| 722459008 | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome |
| 722477003 | Toriello Carey 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 |
| 723365002 | Hypotrichosis and intellectual disability syndrome Lopes type |
| 723403008 | Microbrachycephaly, ptosis, cleft lip syndrome |
| 723410002 | N syndrome |
| 723441001 | Non-progressive cerebellar ataxia with intellectual disability |
| 723454008 | Phosphoribosylpyrophosphate synthetase superactivity |
| 723504000 | Ramos Arroyo syndrome |
| 723621000 | Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
| 723676007 | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
| 723994004 | Seizures and intellectual disability due to hydroxylysinuria syndrome |
| 724001005 | Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
| 724039002 | Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
| 724137002 | Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
| 724178000 | Laryngeal abductor paralysis with intellectual disability syndrome |
| 724207001 | Kleefstra syndrome |
| 724228005 | Infantile choroidocerebral calcification syndrome |
| 724643004 | Transient abnormal myelopoiesis co-occurrent with Down syndrome |
| 724644005 | Myeloid leukemia co-occurrent with Down syndrome |
| 725140007 | Temple Baraitser syndrome |
| 725163002 | X-linked spasticity, intellectual disability, epilepsy syndrome |
| 725289009 | 5-amino-4-imidazole carboxamide ribosiduria |
| 725589005 | Bullous dystrophy macular type |
| 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 |
| 726621009 | Caudal appendage deafness syndrome |
| 726669007 | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome |
| 726670008 | Weaver Williams syndrome |
| 726672000 | Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
| 726709001 | Intellectual disability, cataract, calcified pinna, myopathy syndrome |
| 726727003 | X-linked intellectual disability Hedera type |
| 726732002 | X-linked intellectual disability Nascimento type |
| 732246009 | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
| 732251003 | Cortical blindness, intellectual disability, polydactyly syndrome |
| 732954002 | Osteopenia, intellectual disability, sparse hair syndrome |
| 732957009 | Brachydactyly and preaxial hallux varus syndrome |
| 732958004 | Spastic paraplegia with precocious puberty syndrome |
| 732961003 | Branchial dysplasia, intellectual disability, inguinal hernia syndrome |
| 733031004 | Epilepsy, microcephaly, skeletal dysplasia syndrome |
| 733032006 | Epilepsy telangiectasia syndrome |
| 733049004 | Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
| 733050004 | Dysmorphism, short stature, deafness, disorder of sex development syndrome |
| 733062000 | Marfanoid habitus with autosomal recessive intellectual disability syndrome |
| 733072002 | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
| 733086003 | Pseudoprogeria syndrome |
| 733088002 | Preaxial polydactyly, colobomata, intellectual disability syndrome |
| 733097003 | Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
| 733110004 | Van den Bosch syndrome |
| 733116005 | Aniridia, renal agenesis, psychomotor retardation syndrome |
| 733117001 | Thumb stiffness, brachydactyly, intellectual disability syndrome |
| 733194007 | Dementia co-occurrent and due to Down syndrome |
| 733417008 | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
| 733419006 | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
| 733455003 | Spastic paraplegia, glaucoma, intellectual disability syndrome |
| 733472005 | Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
| 733522005 | Megalocornea with intellectual disability syndrome |
| 733623005 | Autism spectrum disorder, epilepsy, arthrogryposis syndrome |
| 734017008 | Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
| 734173003 | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
| 734349003 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
| 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 |
| 763353000 | Cerebrofacioarticular syndrome |
| 763404001 | Ichthyosis, alopecia, eclabion, ectropion, intellectual disability 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 |
| 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 |
| 763837007 | Oro-facial digital syndrome type 14 |
| 763861000 | Pachygyria, intellectual disability, epilepsy syndrome |
| 764455002 | Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
| 764732004 | Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
| 764861005 | Intellectual disability Birk-Barel type |
| 764950001 | Cryptorchidism, arachnodactyly, intellectual disability syndrome |
| 764959000 | Intellectual disability, myopathy, short stature, endocrine defect syndrome |
| 765089003 | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
| 765170001 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy |
| 765434008 | Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability |
| 765471005 | X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
| 765758008 | Microcephalic primordial dwarfism Montreal type |
| 765761009 | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
| 766753005 | Nijmegen breakage syndrome-like disorder |
| 766824003 | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
| 766870005 | Epiphyseal dysplasia, hearing loss, dysmorphism syndrome |
| 766871009 | Diencephalic mesencephalic junction dysplasia |
| 768473009 | Purine rich element binding protein A syndrome |
| 768677000 | Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability |
| 76880004 | Angelman syndrome |
| 768843007 | Tall stature, intellectual disability, facial dysmorphism syndrome |
| 770404004 | Autosomal recessive chorioretinopathy and microcephaly syndrome |
| 770431001 | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation |
| 770564004 | Microcephalic primordial dwarfism Alazami type |
| 770565003 | Microcephalic primordial dwarfism Dauber type |
| 770604006 | X-linked cerebral, cerebellar, coloboma syndrome |
| 770679002 | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome |
| 770719004 | 3q27.3 microdeletion syndrome |
| 770721009 | Microcephaly, thin corpus callosum, intellectual disability syndrome |
| 770723007 | Optic atrophy, intellectual disability syndrome |
| 770725000 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| 770750002 | Intellectual disability, seizures, macrocephaly, obesity syndrome |
| 770751003 | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome |
| 770755007 | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
| 770756008 | 2p13.2 microdeletion syndrome |
| 770790004 | Developmental delay with autism spectrum disorder and gait instability |
| 770793002 | 5p13 microduplication syndrome |
| 770794008 | 11p15.4 microduplication syndrome |
| 770898002 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency |
| 770901001 | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
| 770907002 | Kagami Ogata syndrome |
| 770941005 | Alopecia, progressive neurological defect, endocrinopathy syndrome |
| 771074000 | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
| 771077007 | Intellectual disability, short stature, hypertelorism syndrome |
| 771148008 | X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
| 771149000 | Hepatic fibrosis, renal cyst, intellectual disability syndrome |
| 771179007 | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
| 771262009 | Pseudoleprechaunism syndrome Patterson type |
| 771336003 | Polymicrogyria with optic nerve hypoplasia |
| 771448004 | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
| 771470001 | Jawad syndrome |
| 771472009 | Developmental and speech delay due to SRY-box 5 deficiency |
| 771476007 | Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome |
| 771477003 | 15q overgrowth syndrome |
| 771512003 | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency |
| 772127009 | White Sutton syndrome |
| 772224009 | Warburg micro syndrome |
| 772225005 | RAB18, member RAS oncogene family deficiency |
| 77287004 | Borderline intellectual disability |
| 773230003 | Cyclin-dependent kinase-like 5 deficiency |
| 773274001 | X-linked intellectual disability, craniofacioskeletal syndrome |
| 773303005 | Spondyloepimetaphyseal dysplasia Genevieve type |
| 773307006 | Zechi Ceide syndrome |
| 773329005 | CK syndrome |
| 773400009 | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome |
| 773404000 | Roifman syndrome |
| 773405004 | Intellectual disability with strabismus syndrome |
| 773416006 | Intellectual disability, facial dysmorphism, hand anomalies syndrome |
| 773418007 | Xylosyltransferase 1 congenital disorder of glycosylation |
| 773419004 | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome |
| 773493002 | 9q31.1q31.3 microdeletion syndrome |
| 773494008 | 14q24.1q24.3 microdeletion syndrome |
| 773498006 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency |
| 773547003 | 13q12.3 microdeletion syndrome |
| 773548008 | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
| 773551001 | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome |
| 773552008 | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
| 773553003 | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome |
| 773554009 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
| 773556006 | Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
| 773581009 | Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
| 773583007 | Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome |
| 773587008 | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome |
| 773621003 | Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome |
| 773670004 | Distal Xq28 microduplication syndrome |
| 773692000 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome |
| 773735007 | Deafness with onychodystrophy syndrome |
| 773769008 | Ataxia, photosensitivity, short stature syndrome |
| 773772001 | Rare non-syndromic intellectual disability |
| 773984007 | Piebald trait with neurologic defects syndrome |
| 774068004 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
| 774070008 | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
| 774102003 | Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
| 774149004 | Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
| 774203000 | Intellectual disability, severe speech delay, mild dysmorphism syndrome |
| 776204008 | Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
| 777998000 | Temtamy preaxial brachydactyly syndrome |
| 778009001 | Blepharophimosis, intellectual disability syndrome, Verloes type |
| 778011005 | Severe intellectual disability and progressive spastic paraplegia |
| 778025006 | Atypical hypotonia cystinuria syndrome |
| 780827006 | Synaptic Ras GTPase activating protein 1- related intellectual disability |
| 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 |
| 782757004 | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
| 782772000 | Congenital muscular dystrophy with intellectual disability and severe epilepsy |
| 782886007 | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
| 782911008 | Hereditary cryohydrocytosis with reduced stomatin |
| 782941005 | Richieri Costa-da Silva syndrome |
| 782945001 | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
| 783005002 | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
| 783061008 | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
| 783089006 | Macrocephaly, intellectual disability, autism 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 |
| 785298001 | Muscle eye brain disease with bilateral multicystic leukodystrophy |
| 785726009 | Hyperekplexia epilepsy syndrome |
| 787093004 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
| 787171006 | 21q22.11q22.12 microdeletion syndrome |
| 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
| 787175002 | Ankyrin 3 related intellectual disability, sleep disturbance syndrome |
| 788417006 | Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
| 788584007 | Blepharophimosis, intellectual disability syndrome |
| 79385002 | Lowe syndrome |
| 816067005 | Diabetes, hypogonadism, deafness, intellectual disability 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 |
| 870260008 | Pervasive developmental disorder with marked impairment of functional language with loss of previously acquired skills |
| 870261007 | Pervasive developmental disorder with marked impairment of functional language without loss of previously acquired skills |
| 870262000 | Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills |
| 870263005 | Pervasive developmental disorder with impairment of functional language |
| 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 |
| 870280009 | Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills |
| 870282001 | Pervasive developmental disorder with severe impairment of functional language without loss of previously acquired skills |
| 870303005 | Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills |
| 870304004 | Pervasive developmental disorder with complete impairment of functional language without loss of previously acquired skills |
| 870305003 | Pervasive developmental disorder with cognitive developmental delay and marked impairment of functional language |
| 870306002 | Pervasive developmental disorder with complete impairment of functional language |
| 870307006 | Pervasive developmental disorder with abscence of functional language |
| 870308001 | Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language |
| 879939002 | 14q32 deletion syndrome |
| 889211000000104 | Specific learning disability |
| 890118006 | Mowat-Wilson syndrome due to monosomy 2q22 |
| 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.