| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113883.3.3616.200.110.102.6099 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.3616.200.110.102.6099 |
| version | 20221210 |
| status | active |
| publisher | Clinical Architecture |
| name | COVID19SNOMEDValueSetForDevelopmentalDelay |
| title | COVID19 SNOMED Value Set for Developmental Delay |
| date | 2023-06-21T18:16:37-04:00 |
| Usages |
|
This value set contains 712 concepts
| Code | System | Display |
| 10007009 | http://snomed.info/sct | Coffin-Siris syndrome (disorder) |
| 1003385006 | http://snomed.info/sct | Neurodevelopmental disorder due to maternal use of alcohol (disorder) |
| 1010630006 | http://snomed.info/sct | X-linked complicated corpus callosum dysgenesis (disorder) |
| 109478007 | http://snomed.info/sct | Kohlschutter's syndrome (disorder) |
| 110359009 | http://snomed.info/sct | Intellectual disability (disorder) |
| 111477005 | http://snomed.info/sct | Reactive attachment disorder of infancy OR early childhood, disinhibited type (disorder) |
| 1156584007 | http://snomed.info/sct | X-linked intellectual disability hypotonic face syndrome (disorder) |
| 1162462009 | http://snomed.info/sct | Angelman syndrome due to maternal monosomy 15q11q13 (disorder) |
| 1163406003 | http://snomed.info/sct | Foreign accent syndrome (disorder) |
| 1167371007 | http://snomed.info/sct | Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) |
| 1167375003 | http://snomed.info/sct | Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) |
| 1169355000 | http://snomed.info/sct | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) |
| 1169356004 | http://snomed.info/sct | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) |
| 1169359006 | http://snomed.info/sct | Tall stature, intellectual disability, renal anomalies syndrome (disorder) |
| 1172586007 | http://snomed.info/sct | Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) |
| 1172593006 | http://snomed.info/sct | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) |
| 1172594000 | http://snomed.info/sct | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder) |
| 1172624000 | http://snomed.info/sct | Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder) |
| 1172626003 | http://snomed.info/sct | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) |
| 1172627007 | http://snomed.info/sct | Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder) |
| 1172629005 | http://snomed.info/sct | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder) |
| 1172630000 | http://snomed.info/sct | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder) |
| 1172685001 | http://snomed.info/sct | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) |
| 1172691004 | http://snomed.info/sct | Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) |
| 1172696009 | http://snomed.info/sct | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) |
| 1172697000 | http://snomed.info/sct | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder) |
| 1172698005 | http://snomed.info/sct | Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) |
| 1172889005 | http://snomed.info/sct | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) |
| 1172899000 | http://snomed.info/sct | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
| 1173036000 | http://snomed.info/sct | Combined oxidative phosphorylation defect type 23 (disorder) |
| 1173998003 | http://snomed.info/sct | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) |
| 1177167002 | http://snomed.info/sct | Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) |
| 1177169004 | http://snomed.info/sct | Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) |
| 1177175008 | http://snomed.info/sct | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) |
| 1179282009 | http://snomed.info/sct | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder) |
| 1179283004 | http://snomed.info/sct | Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) |
| 1179301003 | http://snomed.info/sct | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) |
| 1179408008 | http://snomed.info/sct | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) |
| 1186711002 | http://snomed.info/sct | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) |
| 1186713004 | http://snomed.info/sct | Growth delay, intellectual disability, hepatopathy syndrome (disorder) |
| 1186721005 | http://snomed.info/sct | Infantile inflammatory bowel disease with neurological involvement (disorder) |
| 1186729007 | http://snomed.info/sct | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) |
| 1186730002 | http://snomed.info/sct | Gabriele-de Vries syndrome (disorder) |
| 1186734006 | http://snomed.info/sct | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
| 1186821000 | http://snomed.info/sct | Developmental academic disorder due to deficiency of micronutrients (disorder) |
| 1186823002 | http://snomed.info/sct | Developmental academic disorder due to nutritional stunting (disorder) |
| 1186826005 | http://snomed.info/sct | Developmental academic disorder due to iron deficiency (disorder) |
| 1186832000 | http://snomed.info/sct | Developmental academic disorder due to iodine deficiency (disorder) |
| 1187038009 | http://snomed.info/sct | Non-specific syndromic intellectual disability (disorder) |
| 1187041000 | http://snomed.info/sct | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder) |
| 1187042007 | http://snomed.info/sct | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (disorder) |
| 1187113001 | http://snomed.info/sct | Mucopolysaccharidosis-like plus disease (disorder) |
| 1187114007 | http://snomed.info/sct | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder) |
| 1187122000 | http://snomed.info/sct | Witteveen Kolk syndrome (disorder) |
| 1187195007 | http://snomed.info/sct | Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
| 1187210007 | http://snomed.info/sct | Intellectual disability, epilepsy, extrapyramidal syndrome (disorder) |
| 1187212004 | http://snomed.info/sct | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) |
| 1187247007 | http://snomed.info/sct | WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) |
| 1187249005 | http://snomed.info/sct | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
| 1187250005 | http://snomed.info/sct | Seizures, scoliosis, macrocephaly syndrome (disorder) |
| 1187277001 | http://snomed.info/sct | Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder) |
| 1187278006 | http://snomed.info/sct | Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) |
| 1187303004 | http://snomed.info/sct | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) |
| 1187304005 | http://snomed.info/sct | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) |
| 1187642008 | http://snomed.info/sct | Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) |
| 1187644009 | http://snomed.info/sct | Basel Vanagaite Smirin Yosef syndrome (disorder) |
| 1197059004 | http://snomed.info/sct | Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
| 1197148005 | http://snomed.info/sct | Sanjad Sakati syndrome (disorder) |
| 1197588008 | http://snomed.info/sct | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) |
| 1197591008 | http://snomed.info/sct | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) |
| 1197593006 | http://snomed.info/sct | Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) |
| 1208341008 | http://snomed.info/sct | Severe oculo-renal-cerebellar syndrome (disorder) |
| 1208344000 | http://snomed.info/sct | Fryns Smeets Thiry syndrome (disorder) |
| 1208481000 | http://snomed.info/sct | Progressive cerebello-cerebral atrophy (disorder) |
| 1208488006 | http://snomed.info/sct | Special AT-rich sequence-binding protein 2-associated syndrome (disorder) |
| 1208614008 | http://snomed.info/sct | Autosomal dominant deafness with onychodystrophy syndrome (disorder) |
| 1208720000 | http://snomed.info/sct | Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
| 1208727002 | http://snomed.info/sct | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
| 1208746001 | http://snomed.info/sct | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder) |
| 1208747005 | http://snomed.info/sct | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) |
| 1208936008 | http://snomed.info/sct | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) |
| 1208987006 | http://snomed.info/sct | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder) |
| 1216940001 | http://snomed.info/sct | Joint contractures, developmental delay, Pierre Robin syndrome (disorder) |
| 1217228004 | http://snomed.info/sct | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) |
| 1217229007 | http://snomed.info/sct | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) |
| 1217367007 | http://snomed.info/sct | Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) |
| 1217371005 | http://snomed.info/sct | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
| 1217379007 | http://snomed.info/sct | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
| 1217381009 | http://snomed.info/sct | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder) |
| 1217382002 | http://snomed.info/sct | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) |
| 1220568003 | http://snomed.info/sct | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder) |
| 1220589007 | http://snomed.info/sct | Keppen Lubinsky syndrome (disorder) |
| 1220594007 | http://snomed.info/sct | Pierpont syndrome (disorder) |
| 1220597000 | http://snomed.info/sct | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder) |
| 1220600004 | http://snomed.info/sct | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
| 1222656005 | http://snomed.info/sct | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) |
| 1222657001 | http://snomed.info/sct | Prune exopolyphosphatase 1-related neurological syndrome (disorder) |
| 1222658006 | http://snomed.info/sct | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) |
| 1222659003 | http://snomed.info/sct | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) |
| 1222672002 | http://snomed.info/sct | 3-methylglutaconic aciduria type 9 (disorder) |
| 1222706005 | http://snomed.info/sct | Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) |
| 1222708006 | http://snomed.info/sct | Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) |
| 1222710008 | http://snomed.info/sct | Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) |
| 1228844002 | http://snomed.info/sct | 1p35.2 microdeletion syndrome (disorder) |
| 1228886008 | http://snomed.info/sct | 9q33.3q34.11 microdeletion syndrome (disorder) |
| 1228890005 | http://snomed.info/sct | 16p13.2 microdeletion syndrome (disorder) |
| 1229872004 | http://snomed.info/sct | Xq25 microduplication syndrome (disorder) |
| 1229873009 | http://snomed.info/sct | 17q24.2 microdeletion syndrome (disorder) |
| 1229875002 | http://snomed.info/sct | 9q21.13 microdeletion syndrome (disorder) |
| 1229882003 | http://snomed.info/sct | 11q22.2q22.3 microdeletion syndrome (disorder) |
| 1229883008 | http://snomed.info/sct | 19p13.3 microduplication syndrome (disorder) |
| 1229891004 | http://snomed.info/sct | 20q11.2 microdeletion syndrome (disorder) |
| 1229895008 | http://snomed.info/sct | 8q24.3 microdeletion syndrome (disorder) |
| 1230273004 | http://snomed.info/sct | Megaconial congenital muscular dystrophy (disorder) |
| 1230376005 | http://snomed.info/sct | Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder) |
| 123526007 | http://snomed.info/sct | Delay in sexual development AND/OR puberty (disorder) |
| 124748007 | http://snomed.info/sct | Delayed adrenarche (disorder) |
| 129104009 | http://snomed.info/sct | Developmental mental disorder (disorder) |
| 17827007 | http://snomed.info/sct | Cross syndrome (disorder) |
| 17961008 | http://snomed.info/sct | Conduct disorder, childhood-onset type (disorder) |
| 18541000119100 | http://snomed.info/sct | Borderline cognitive developmental delay (disorder) |
| 1855002 | http://snomed.info/sct | Developmental academic disorder (disorder) |
| 18941000 | http://snomed.info/sct | Oppositional defiant disorder (disorder) |
| 191689008 | http://snomed.info/sct | Active infantile autism (disorder) |
| 191690004 | http://snomed.info/sct | Residual infantile autism (disorder) |
| 191692007 | http://snomed.info/sct | Active disintegrative psychoses (disorder) |
| 191693002 | http://snomed.info/sct | Residual disintegrative psychoses (disorder) |
| 192082001 | http://snomed.info/sct | Aggressive unsocial conduct disorder (disorder) |
| 192092009 | http://snomed.info/sct | Group delinquency (disorder) |
| 192099000 | http://snomed.info/sct | Childhood disorder of conduct and emotion (disorder) |
| 192100008 | http://snomed.info/sct | Neurotic delinquency (disorder) |
| 192119003 | http://snomed.info/sct | Sibling jealousy (disorder) |
| 192127007 | http://snomed.info/sct | Child attention deficit disorder (disorder) |
| 192131001 | http://snomed.info/sct | Hyperkinesis with developmental delay (disorder) |
| 192132008 | http://snomed.info/sct | Hyperkinetic conduct disorder (disorder) |
| 192136006 | http://snomed.info/sct | Specific reading disorder (disorder) |
| 192138007 | http://snomed.info/sct | Developmental dyslexia (disorder) |
| 192147004 | http://snomed.info/sct | Mixed disorder of psychological development (disorder) |
| 192562009 | http://snomed.info/sct | Disorder of psychological development (disorder) |
| 192575009 | http://snomed.info/sct | Mixed disorder of scholastic skills (disorder) |
| 21634003 | http://snomed.info/sct | Borjeson-Forssman-Lehmann syndrome (disorder) |
| 224958001 | http://snomed.info/sct | Global developmental delay (disorder) |
| 229623002 | http://snomed.info/sct | Developmental dysfluency (disorder) |
| 229683000 | http://snomed.info/sct | Motor speech disorder (disorder) |
| 229697008 | http://snomed.info/sct | Oral-verbal dyspraxia (disorder) |
| 229698003 | http://snomed.info/sct | Articulatory dyspraxia (disorder) |
| 229699006 | http://snomed.info/sct | Immature articulatory praxis (disorder) |
| 229700007 | http://snomed.info/sct | Developmental motor speech disorder (disorder) |
| 229701006 | http://snomed.info/sct | Developmental articulatory dyspraxia (disorder) |
| 229703009 | http://snomed.info/sct | Developmental verbal dyspraxia (disorder) |
| 229704003 | http://snomed.info/sct | Acquired choreiform dyspraxia (disorder) |
| 229705002 | http://snomed.info/sct | Mixed acquired dyspraxia (disorder) |
| 229706001 | http://snomed.info/sct | Ideomotor dyspraxia (disorder) |
| 229707005 | http://snomed.info/sct | Dyspraxia of velopharynx (disorder) |
| 229708000 | http://snomed.info/sct | Velar dyspraxia (disorder) |
| 229709008 | http://snomed.info/sct | Tongue tip dyspraxia (disorder) |
| 229712006 | http://snomed.info/sct | Disorders of attention and motor control (disorder) |
| 229715008 | http://snomed.info/sct | Deficits in attention motor control and perception (disorder) |
| 229718005 | http://snomed.info/sct | Phonological delay (disorder) |
| 229721007 | http://snomed.info/sct | Speech delay (disorder) |
| 229734008 | http://snomed.info/sct | Expressive language delay (disorder) |
| 229736005 | http://snomed.info/sct | Receptive language delay (disorder) |
| 229740001 | http://snomed.info/sct | Delayed pre-verbal development (disorder) |
| 229742009 | http://snomed.info/sct | Restricted expressive language development (disorder) |
| 2312009 | http://snomed.info/sct | Reactive attachment disorder of infancy OR early childhood, inhibited type (disorder) |
| 23148009 | http://snomed.info/sct | Undifferentiated attention deficit disorder (disorder) |
| 231536004 | http://snomed.info/sct | Atypical autism (disorder) |
| 231537008 | http://snomed.info/sct | Developmental agnosia (disorder) |
| 231540008 | http://snomed.info/sct | Conduct disorder - in family context (disorder) |
| 231541007 | http://snomed.info/sct | Conduct disorder - unsocialized (disorder) |
| 231542000 | http://snomed.info/sct | Depressive conduct disorder (disorder) |
| 232059000 | http://snomed.info/sct | Laurence-Moon syndrome (disorder) |
| 234146006 | http://snomed.info/sct | Hennekam lymphangiectasia-lymphedema syndrome (disorder) |
| 23560001 | http://snomed.info/sct | Asperger's disorder (disorder) |
| 236529001 | http://snomed.info/sct | Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) |
| 237813007 | http://snomed.info/sct | Constitutional delay of growth and puberty (disorder) |
| 237814001 | http://snomed.info/sct | Arrested puberty (disorder) |
| 238047006 | http://snomed.info/sct | Beta-D-mannosidosis (disorder) |
| 24125008 | http://snomed.info/sct | Mental disorder in infancy (disorder) |
| 247531004 | http://snomed.info/sct | Delayed growth of secondary sexual hair (disorder) |
| 248290002 | http://snomed.info/sct | Developmental delay (disorder) |
| 253176002 | http://snomed.info/sct | Gillespie syndrome (disorder) |
| 26453000 | http://snomed.info/sct | Mental disorder in adolescence (disorder) |
| 268661009 | http://snomed.info/sct | Nonaggressive unsocial conduct disorder (disorder) |
| 268662002 | http://snomed.info/sct | Unsocial childhood truancy (disorder) |
| 268674003 | http://snomed.info/sct | Developmental disorder of motor function (disorder) |
| 268734000 | http://snomed.info/sct | Developmental expressive language disorder (disorder) |
| 268738002 | http://snomed.info/sct | Specific spelling disorder (disorder) |
| 270905000 | http://snomed.info/sct | Childhood disinhibited attachment disorder (disorder) |
| 275271004 | http://snomed.info/sct | Apraxia, developmental (disorder) |
| 27544004 | http://snomed.info/sct | Developmental coordination disorder (disorder) |
| 278920007 | http://snomed.info/sct | Speech and language dyspraxias (disorder) |
| 30509009 | http://snomed.info/sct | Gender identity disorder of adolescence, previously homosexual (disorder) |
| 307653008 | http://snomed.info/sct | Clumsiness - motor delay (disorder) |
| 31177006 | http://snomed.info/sct | Attention deficit hyperactivity disorder, combined type (disorder) |
| 31216003 | http://snomed.info/sct | Profound intellectual disability (disorder) |
| 312214005 | http://snomed.info/sct | Floating-Harbor syndrome (disorder) |
| 31648009 | http://snomed.info/sct | Unaggressive type unsocialized behavior disorder (disorder) |
| 33982008 | http://snomed.info/sct | Hyperphosphatasemia with intellectual disability (disorder) |
| 35253001 | http://snomed.info/sct | Attention deficit hyperactivity disorder, predominantly inattentive type (disorder) |
| 35919005 | http://snomed.info/sct | Pervasive developmental disorder (disorder) |
| 359661001 | http://snomed.info/sct | Specific number difficulty (disorder) |
| 361275004 | http://snomed.info/sct | Oral dyspraxia (disorder) |
| 361277007 | http://snomed.info/sct | Verbal dyspraxia (disorder) |
| 363236004 | http://snomed.info/sct | Neurodevelopmental disorder of fetus (disorder) |
| 373618009 | http://snomed.info/sct | Autistic spectrum disorder with isolated skills (disorder) |
| 386820009 | http://snomed.info/sct | Socialized behavior disorder (disorder) |
| 3914008 | http://snomed.info/sct | Mental disorder in childhood (disorder) |
| 39951000119105 | http://snomed.info/sct | Pervasive developmental disorder of residual state (disorder) |
| 400003000 | http://snomed.info/sct | Delayed puberty (disorder) |
| 40083003 | http://snomed.info/sct | Stereotypic movement disorder with self-injurious behavior (disorder) |
| 406506008 | http://snomed.info/sct | Attention deficit hyperactivity disorder (disorder) |
| 40700009 | http://snomed.info/sct | Severe intellectual disability (disorder) |
| 408856003 | http://snomed.info/sct | Autistic disorder (disorder) |
| 408857007 | http://snomed.info/sct | Infantile autism (disorder) |
| 412787009 | http://snomed.info/sct | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) |
| 41526007 | http://snomed.info/sct | Reactive attachment disorder (disorder) |
| 422437002 | http://snomed.info/sct | X-linked intellectual disability with marfanoid habitus (disorder) |
| 425805004 | http://snomed.info/sct | Cognitive developmental delay (disorder) |
| 426881004 | http://snomed.info/sct | Developmental delay in feeding (disorder) |
| 430099007 | http://snomed.info/sct | Gross motor development delay (disorder) |
| 430909002 | http://snomed.info/sct | Conduct disorder (disorder) |
| 432091002 | http://snomed.info/sct | Savant syndrome (disorder) |
| 43614003 | http://snomed.info/sct | Autistic disorder of childhood onset (disorder) |
| 44124003 | http://snomed.info/sct | Reactive attachment disorder of early childhood (disorder) |
| 442168001 | http://snomed.info/sct | Retardation of physical development (disorder) |
| 442314000 | http://snomed.info/sct | Active but odd autism (disorder) |
| 443735008 | http://snomed.info/sct | Nonverbal learning disorder (disorder) |
| 45677003 | http://snomed.info/sct | Developmental expressive writing disorder (disorder) |
| 47916000 | http://snomed.info/sct | Developmental arithmetic disorder (disorder) |
| 48826008 | http://snomed.info/sct | Conduct disorder, adolescent-onset type (disorder) |
| 4949009 | http://snomed.info/sct | Motor skill disorder (disorder) |
| 52824009 | http://snomed.info/sct | Developmental reading disorder (disorder) |
| 54319003 | http://snomed.info/sct | Disruptive behavior disorder (disorder) |
| 5507002 | http://snomed.info/sct | Stereotypy habit disorder (disorder) |
| 5619004 | http://snomed.info/sct | Bardet-Biedl syndrome (disorder) |
| 57715001 | http://snomed.info/sct | Gender identity disorder of adolescence (disorder) |
| 57917004 | http://snomed.info/sct | Seckel syndrome (disorder) |
| 59252009 | http://snomed.info/sct | Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) |
| 61152003 | http://snomed.info/sct | Moderate intellectual disability (disorder) |
| 613003 | http://snomed.info/sct | Fragile X syndrome (disorder) |
| 61901004 | http://snomed.info/sct | Conduct disorder, undifferentiated type (disorder) |
| 62211000119103 | http://snomed.info/sct | Moderate expressive language delay (disorder) |
| 62221000119105 | http://snomed.info/sct | Severe expressive language delay (disorder) |
| 62231000119108 | http://snomed.info/sct | Mild expressive language delay (disorder) |
| 63223002 | http://snomed.info/sct | Delayed female puberty (disorder) |
| 66307007 | http://snomed.info/sct | Conduct disorder, group type (disorder) |
| 68618008 | http://snomed.info/sct | Rett's disorder (disorder) |
| 68963006 | http://snomed.info/sct | Gender identity disorder of adolescence, previously heterosexual (disorder) |
| 698689005 | http://snomed.info/sct | Attention deficit hyperactivity disorder, predominantly inattentive type in remission (disorder) |
| 698692009 | http://snomed.info/sct | Attention deficit hyperactivity disorder, predominantly hyperactive impulsive type in remission (disorder) |
| 698947004 | http://snomed.info/sct | Conduct disorder in remission (disorder) |
| 699297004 | http://snomed.info/sct | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) |
| 699298009 | http://snomed.info/sct | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) |
| 699316006 | http://snomed.info/sct | Myhre syndrome (disorder) |
| 699669001 | http://snomed.info/sct | Renpenning syndrome (disorder) |
| 700364009 | http://snomed.info/sct | Neurodevelopmental disorder (disorder) |
| 702327009 | http://snomed.info/sct | Monocarboxylate transporter 8 deficiency (disorder) |
| 702344008 | http://snomed.info/sct | Pitt-Hopkins syndrome (disorder) |
| 702354007 | http://snomed.info/sct | X-linked intellectual developmental disorder Christianson type (disorder) |
| 702356009 | http://snomed.info/sct | X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder) |
| 702357000 | http://snomed.info/sct | Chromosome 2q37 deletion syndrome (disorder) |
| 702412005 | http://snomed.info/sct | X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) |
| 702416008 | http://snomed.info/sct | X-linked intellectual disability Snyder type (disorder) |
| 702423009 | http://snomed.info/sct | Deafness-dystonia-optic neuronopathy syndrome (disorder) |
| 702441001 | http://snomed.info/sct | Fatal X-linked ataxia with deafness and loss of vision (disorder) |
| 702450004 | http://snomed.info/sct | FOXG1 syndrome (disorder) |
| 702528003 | http://snomed.info/sct | Developmental delay in receptive-expressive language (disorder) |
| 702732007 | http://snomed.info/sct | High-functioning autism (disorder) |
| 702815001 | http://snomed.info/sct | Attention deficit hyperactivity disorder, inattentive presentation (restrictive) (disorder) |
| 702816000 | http://snomed.info/sct | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) |
| 703369003 | http://snomed.info/sct | Microcephaly-capillary malformation syndrome (disorder) |
| 703389002 | http://snomed.info/sct | Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) |
| 703477003 | http://snomed.info/sct | Developmental delay in fine motor function (disorder) |
| 703478008 | http://snomed.info/sct | Developmental delay in social skills (disorder) |
| 703526007 | http://snomed.info/sct | Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) |
| 703535000 | http://snomed.info/sct | Mowat-Wilson syndrome (disorder) |
| 708037001 | http://snomed.info/sct | Residual Asperger's disorder (disorder) |
| 712884004 | http://snomed.info/sct | Pathological demand avoidance (disorder) |
| 715409005 | http://snomed.info/sct | Trigonocephaly C syndrome (disorder) |
| 715428003 | http://snomed.info/sct | Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
| 715441004 | http://snomed.info/sct | McDonough syndrome (disorder) |
| 715628009 | http://snomed.info/sct | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) |
| 715989002 | http://snomed.info/sct | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) |
| 716024001 | http://snomed.info/sct | Goniodysgenesis with intellectual disability and short stature syndrome (disorder) |
| 716089008 | http://snomed.info/sct | Craniofacial digital and genital anomalies syndrome (disorder) |
| 716096005 | http://snomed.info/sct | Hypospadias and intellectual disability syndrome Goldblatt type (disorder) |
| 716107009 | http://snomed.info/sct | Early onset parkinsonism and intellectual disability syndrome (disorder) |
| 716112005 | http://snomed.info/sct | Microcephaly with deafness and intellectual disability syndrome (disorder) |
| 716191002 | http://snomed.info/sct | Alopecia and intellectual disability syndrome (disorder) |
| 716199000 | http://snomed.info/sct | Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) |
| 716334004 | http://snomed.info/sct | Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) |
| 716706009 | http://snomed.info/sct | Female restricted epilepsy with intellectual disability syndrome (disorder) |
| 716709002 | http://snomed.info/sct | FRAXE intellectual disability syndrome (disorder) |
| 716996008 | http://snomed.info/sct | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) |
| 717157006 | http://snomed.info/sct | Trisomy 10p (disorder) |
| 717222003 | http://snomed.info/sct | Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) |
| 717223008 | http://snomed.info/sct | X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) |
| 717338006 | http://snomed.info/sct | Koolen De Vries syndrome (disorder) |
| 717813005 | http://snomed.info/sct | Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) |
| 717822006 | http://snomed.info/sct | Goldberg Shprintzen megacolon syndrome (disorder) |
| 717887003 | http://snomed.info/sct | Biemond syndrome type 2 (disorder) |
| 717913006 | http://snomed.info/sct | Blepharonasofacial malformation syndrome (disorder) |
| 717945001 | http://snomed.info/sct | Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) |
| 718226002 | http://snomed.info/sct | Wolf Hirschhorn syndrome (disorder) |
| 718227006 | http://snomed.info/sct | Proximal 16p11.2 microdeletion syndrome (disorder) |
| 718393002 | http://snomed.info/sct | Atypical Rett syndrome (disorder) |
| 718573009 | http://snomed.info/sct | Achalasia microcephaly syndrome (disorder) |
| 718577005 | http://snomed.info/sct | X-linked intellectual disability Atkin type (disorder) |
| 718680001 | http://snomed.info/sct | Oro-facial digital syndrome type 9 (disorder) |
| 718681002 | http://snomed.info/sct | Oro-facial digital syndrome type 11 (disorder) |
| 718766002 | http://snomed.info/sct | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
| 718845002 | http://snomed.info/sct | X-linked intellectual disability with ataxia and apraxia syndrome (disorder) |
| 718847005 | http://snomed.info/sct | X-linked neurodegenerative syndrome Hamel type (disorder) |
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| 718896000 | http://snomed.info/sct | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
| 718897009 | http://snomed.info/sct | X-linked intellectual disability Seemanova type (disorder) |
| 718900002 | http://snomed.info/sct | Syndromic X-linked intellectual disability type 11 (disorder) |
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| 718908009 | http://snomed.info/sct | X-linked intellectual disability Siderius type (disorder) |
| 718909001 | http://snomed.info/sct | X-linked intellectual disability Stevenson type (disorder) |
| 718910006 | http://snomed.info/sct | X-linked intellectual disability Stocco Dos Santos type (disorder) |
| 718911005 | http://snomed.info/sct | X-linked intellectual disability Stoll type (disorder) |
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| 718914002 | http://snomed.info/sct | X-linked intellectual disability Van Esch type (disorder) |
| 719009006 | http://snomed.info/sct | X-linked intellectual disability Wilson type (disorder) |
| 719010001 | http://snomed.info/sct | X-linked intellectual disability Schimke type (disorder) |
| 719011002 | http://snomed.info/sct | X-linked intellectual disability Pai type (disorder) |
| 719012009 | http://snomed.info/sct | X-linked intellectual disability Miles Carpenter type (disorder) |
| 719013004 | http://snomed.info/sct | X-linked intellectual disability Cilliers type (disorder) |
| 719016007 | http://snomed.info/sct | X-linked intellectual disability Cantagrel type (disorder) |
| 719017003 | http://snomed.info/sct | X-linked intellectual disability Armfield type (disorder) |
| 719018008 | http://snomed.info/sct | X-linked intellectual disability Abidi type (disorder) |
| 719020006 | http://snomed.info/sct | Pallister W syndrome (disorder) |
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| 719046005 | http://snomed.info/sct | 12q14 microdeletion syndrome (disorder) |
| 719069008 | http://snomed.info/sct | Shprintzen Goldberg craniosynostosis syndrome (disorder) |
| 719097002 | http://snomed.info/sct | Branchioskeletogenital syndrome (disorder) |
| 719102004 | http://snomed.info/sct | Congenital cataract with ataxia and deafness syndrome (disorder) |
| 719136005 | http://snomed.info/sct | X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) |
| 719138006 | http://snomed.info/sct | X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) |
| 719139003 | http://snomed.info/sct | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) |
| 719140001 | http://snomed.info/sct | X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
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| 719156006 | http://snomed.info/sct | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
| 719157002 | http://snomed.info/sct | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
| 719160009 | http://snomed.info/sct | Syndromic X-linked intellectual disability type 7 (disorder) |
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| 719162001 | http://snomed.info/sct | Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) |
| 719202006 | http://snomed.info/sct | Spondyloepiphyseal dysplasia tarda Kohn type (disorder) |
| 719378009 | http://snomed.info/sct | Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
| 719380003 | http://snomed.info/sct | Microcephalus cardiomyopathy syndrome (disorder) |
| 719450007 | http://snomed.info/sct | Disorder of sex development with intellectual disability syndrome (disorder) |
| 719466009 | http://snomed.info/sct | Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
| 719583002 | http://snomed.info/sct | 17q11.2 microduplication syndrome (disorder) |
| 719599008 | http://snomed.info/sct | 19q13.11 microdeletion syndrome (disorder) |
| 719600006 | http://snomed.info/sct | 1p21.3 microdeletion syndrome (disorder) |
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| 719800009 | http://snomed.info/sct | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) |
| 719808002 | http://snomed.info/sct | Chromosome Xp11.3 microdeletion syndrome (disorder) |
| 719810000 | http://snomed.info/sct | X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
| 719811001 | http://snomed.info/sct | X-linked intellectual disability Cabezas type (disorder) |
| 719812008 | http://snomed.info/sct | X-linked intellectual disability with plagiocephaly syndrome (disorder) |
| 719825000 | http://snomed.info/sct | X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
| 719826004 | http://snomed.info/sct | X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
| 719833004 | http://snomed.info/sct | Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
| 719834005 | http://snomed.info/sct | Wilson Turner syndrome (disorder) |
| 719842006 | http://snomed.info/sct | Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) |
| 719909009 | http://snomed.info/sct | Chromosome Xq28 trisomy (disorder) |
| 719947004 | http://snomed.info/sct | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) |
| 720401009 | http://snomed.info/sct | Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) |
| 720468000 | http://snomed.info/sct | Aniridia and intellectual disability syndrome (disorder) |
| 720501007 | http://snomed.info/sct | Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) |
| 720502000 | http://snomed.info/sct | Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) |
| 720517001 | http://snomed.info/sct | Ataxia with deafness and intellectual disability syndrome (disorder) |
| 720565000 | http://snomed.info/sct | Bohring Opitz syndrome (disorder) |
| 720573009 | http://snomed.info/sct | Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) |
| 720606005 | http://snomed.info/sct | Cardiocranial syndrome Pfeiffer type (disorder) |
| 720635002 | http://snomed.info/sct | Cerebro-facio-thoracic dysplasia (disorder) |
| 720639008 | http://snomed.info/sct | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
| 720746006 | http://snomed.info/sct | Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) |
| 720748007 | http://snomed.info/sct | Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) |
| 720825005 | http://snomed.info/sct | Cystic leukoencephalopathy without megalencephaly (disorder) |
| 720855003 | http://snomed.info/sct | Cerebrooculonasal syndrome (disorder) |
| 720954000 | http://snomed.info/sct | Filippi syndrome (disorder) |
| 720955004 | http://snomed.info/sct | Fine Lubinsky syndrome (disorder) |
| 720957007 | http://snomed.info/sct | Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
| 720958002 | http://snomed.info/sct | Frank-Ter Haar syndrome (disorder) |
| 720979002 | http://snomed.info/sct | Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
| 720981000 | http://snomed.info/sct | Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
| 720982007 | http://snomed.info/sct | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
| 721007005 | http://snomed.info/sct | Hair defect with photosensitivity and intellectual disability syndrome (disorder) |
| 721008000 | http://snomed.info/sct | Hall Riggs syndrome (disorder) |
| 721017000 | http://snomed.info/sct | Postaxial polydactyly and intellectual disability syndrome (disorder) |
| 721073008 | http://snomed.info/sct | Short stature with webbed neck and congenital heart disease syndrome (disorder) |
| 721086004 | http://snomed.info/sct | Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
| 721087008 | http://snomed.info/sct | Deafness and intellectual disability Martin Probst type syndrome (disorder) |
| 721088003 | http://snomed.info/sct | Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) |
| 721089006 | http://snomed.info/sct | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
| 721146009 | http://snomed.info/sct | Intellectual disability, epilepsy, bulbous nose syndrome (disorder) |
| 721207002 | http://snomed.info/sct | Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) |
| 721208007 | http://snomed.info/sct | Ectodermal dysplasia with blindness syndrome (disorder) |
| 721841001 | http://snomed.info/sct | Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) |
| 721843003 | http://snomed.info/sct | Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
| 721875000 | http://snomed.info/sct | Juberg Marsidi syndrome (disorder) |
| 721883006 | http://snomed.info/sct | Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
| 721973006 | http://snomed.info/sct | Lipodystrophy, intellectual disability, deafness syndrome (disorder) |
| 721974000 | http://snomed.info/sct | Lowry MacLean syndrome (disorder) |
| 722002002 | http://snomed.info/sct | Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) |
| 722003007 | http://snomed.info/sct | Intellectual disability with cataract and kyphosis syndrome (disorder) |
| 722031003 | http://snomed.info/sct | Kapur Toriello syndrome (disorder) |
| 722033000 | http://snomed.info/sct | Macrocephaly, short stature, paraplegia syndrome (disorder) |
| 722035007 | http://snomed.info/sct | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) |
| 722037004 | http://snomed.info/sct | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) |
| 722051004 | http://snomed.info/sct | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) |
| 722055008 | http://snomed.info/sct | Oculopalatocerebral syndrome (disorder) |
| 722056009 | http://snomed.info/sct | Oculocerebrofacial syndrome Kaufman type (disorder) |
| 722065002 | http://snomed.info/sct | Okamoto syndrome (disorder) |
| 722075004 | http://snomed.info/sct | Oro-facial digital syndrome type 10 (disorder) |
| 722105002 | http://snomed.info/sct | Oro-facial digital syndrome type 5 (disorder) |
| 722106001 | http://snomed.info/sct | Oro-facial digital syndrome type 8 (disorder) |
| 722107005 | http://snomed.info/sct | Ossification anomaly with psychomotor developmental delay syndrome (disorder) |
| 722110003 | http://snomed.info/sct | Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) |
| 722209002 | http://snomed.info/sct | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
| 722213009 | http://snomed.info/sct | Severe X-linked intellectual disability Gustavson type (disorder) |
| 722281001 | http://snomed.info/sct | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) |
| 722282008 | http://snomed.info/sct | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) |
| 722287002 | http://snomed.info/sct | Autism and facial port-wine stain syndrome (disorder) |
| 722378009 | http://snomed.info/sct | Congenital cataract with deafness and hypogonadism syndrome (disorder) |
| 722379001 | http://snomed.info/sct | Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) |
| 722380003 | http://snomed.info/sct | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) |
| 722454003 | http://snomed.info/sct | Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
| 722455002 | http://snomed.info/sct | Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) |
| 722456001 | http://snomed.info/sct | Intellectual disability, developmental delay, contracture syndrome (disorder) |
| 722459008 | http://snomed.info/sct | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
| 722477003 | http://snomed.info/sct | Toriello Carey syndrome (disorder) |
| 722478008 | http://snomed.info/sct | Skeletal dysplasia with intellectual disability syndrome (disorder) |
| 722975002 | http://snomed.info/sct | Primary stereotypy (disorder) |
| 722976001 | http://snomed.info/sct | Secondary stereotypy (disorder) |
| 723304001 | http://snomed.info/sct | Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) |
| 723332005 | http://snomed.info/sct | Isodicentric chromosome 15 syndrome (disorder) |
| 723333000 | http://snomed.info/sct | Faciocardiorenal syndrome (disorder) |
| 723336008 | http://snomed.info/sct | Fallot complex with intellectual disability and growth delay syndrome (disorder) |
| 723365002 | http://snomed.info/sct | Hypotrichosis and intellectual disability syndrome Lopes type (disorder) |
| 723403008 | http://snomed.info/sct | Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
| 723410002 | http://snomed.info/sct | N syndrome (disorder) |
| 723441001 | http://snomed.info/sct | Non-progressive cerebellar ataxia with intellectual disability (disorder) |
| 723454008 | http://snomed.info/sct | Phosphoribosylpyrophosphate synthetase superactivity (disorder) |
| 723504000 | http://snomed.info/sct | Ramos Arroyo syndrome (disorder) |
| 723621000 | http://snomed.info/sct | Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) |
| 723676007 | http://snomed.info/sct | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
| 723994004 | http://snomed.info/sct | Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) |
| 724001005 | http://snomed.info/sct | Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) |
| 724039002 | http://snomed.info/sct | Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) |
| 724137002 | http://snomed.info/sct | Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) |
| 724178000 | http://snomed.info/sct | Laryngeal abductor paralysis with intellectual disability syndrome (disorder) |
| 724207001 | http://snomed.info/sct | Kleefstra syndrome (disorder) |
| 724228005 | http://snomed.info/sct | Infantile choroidocerebral calcification syndrome (disorder) |
| 724564005 | http://snomed.info/sct | Intellectual developmental disorder due to nutritional deficiency (disorder) |
| 724652008 | http://snomed.info/sct | Stereotypic movement disorder without self-injurious behavior (disorder) |
| 724733005 | http://snomed.info/sct | Oppositional defiant disorder co-occurrent with chronic irritability-anger (disorder) |
| 724734004 | http://snomed.info/sct | Oppositional defiant disorder co-occurrent with chronic irritability-anger with normal prosocial emotions (disorder) |
| 724735003 | http://snomed.info/sct | Oppositional defiant disorder without chronic irritability-anger (disorder) |
| 724736002 | http://snomed.info/sct | Oppositional defiant disorder without chronic irritability-anger with limited prosocial emotions (disorder) |
| 724737006 | http://snomed.info/sct | Oppositional defiant disorder without chronic irritability-anger with normal prosocial emotions (disorder) |
| 724738001 | http://snomed.info/sct | Childhood onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
| 724739009 | http://snomed.info/sct | Childhood onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
| 724740006 | http://snomed.info/sct | Adolescent onset conduct-dissocial disorder (disorder) |
| 724741005 | http://snomed.info/sct | Adolescent onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
| 724742003 | http://snomed.info/sct | Adolescent onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
| 725140007 | http://snomed.info/sct | Temple Baraitser syndrome (disorder) |
| 725163002 | http://snomed.info/sct | X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) |
| 725289009 | http://snomed.info/sct | 5-amino-4-imidazole carboxamide ribosiduria (disorder) |
| 725589005 | http://snomed.info/sct | Bullous dystrophy macular type (disorder) |
| 725906006 | http://snomed.info/sct | Intellectual disability Buenos Aires type (disorder) |
| 725908007 | http://snomed.info/sct | Neurofaciodigitorenal syndrome (disorder) |
| 725912001 | http://snomed.info/sct | X-linked intellectual disability Brooks type (disorder) |
| 726031001 | http://snomed.info/sct | Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) |
| 726621009 | http://snomed.info/sct | Caudal appendage deafness syndrome (disorder) |
| 726669007 | http://snomed.info/sct | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) |
| 726670008 | http://snomed.info/sct | Weaver Williams syndrome (disorder) |
| 726672000 | http://snomed.info/sct | Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
| 726709001 | http://snomed.info/sct | Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
| 726727003 | http://snomed.info/sct | X-linked intellectual disability Hedera type (disorder) |
| 726732002 | http://snomed.info/sct | X-linked intellectual disability Nascimento type (disorder) |
| 7291006 | http://snomed.info/sct | Reactive attachment disorder of infancy (disorder) |
| 732246009 | http://snomed.info/sct | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) |
| 732251003 | http://snomed.info/sct | Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
| 732954002 | http://snomed.info/sct | Osteopenia, intellectual disability, sparse hair syndrome (disorder) |
| 732957009 | http://snomed.info/sct | Brachydactyly and preaxial hallux varus syndrome (disorder) |
| 732958004 | http://snomed.info/sct | Spastic paraplegia with precocious puberty syndrome (disorder) |
| 732961003 | http://snomed.info/sct | Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) |
| 733031004 | http://snomed.info/sct | Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) |
| 733032006 | http://snomed.info/sct | Epilepsy telangiectasia syndrome (disorder) |
| 733049004 | http://snomed.info/sct | Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
| 733050004 | http://snomed.info/sct | Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder) |
| 733062000 | http://snomed.info/sct | Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) |
| 733066002 | http://snomed.info/sct | Trigonocephaly, short stature, developmental delay syndrome (disorder) |
| 733072002 | http://snomed.info/sct | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
| 733086003 | http://snomed.info/sct | Pseudoprogeria syndrome (disorder) |
| 733088002 | http://snomed.info/sct | Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) |
| 733097003 | http://snomed.info/sct | Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
| 733110004 | http://snomed.info/sct | Van den Bosch syndrome (disorder) |
| 733116005 | http://snomed.info/sct | Aniridia, renal agenesis, psychomotor retardation syndrome (disorder) |
| 733117001 | http://snomed.info/sct | Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) |
| 733417008 | http://snomed.info/sct | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) |
| 733419006 | http://snomed.info/sct | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
| 733455003 | http://snomed.info/sct | Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
| 733472005 | http://snomed.info/sct | Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
| 733521003 | http://snomed.info/sct | Distal 16p11.2 microdeletion syndrome (disorder) |
| 733522005 | http://snomed.info/sct | Megalocornea with intellectual disability syndrome (disorder) |
| 733623005 | http://snomed.info/sct | Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) |
| 734017008 | http://snomed.info/sct | Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
| 734173003 | http://snomed.info/sct | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) |
| 734349003 | http://snomed.info/sct | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) |
| 737343009 | http://snomed.info/sct | Secondary neurodevelopmental disorder (disorder) |
| 7461003 | http://snomed.info/sct | Attention deficit hyperactivity disorder, predominantly hyperactive impulsive type (disorder) |
| 74850006 | http://snomed.info/sct | Conduct disorder, solitary aggressive type (disorder) |
| 762317007 | http://snomed.info/sct | Developmental language disorder co-occurrent with impairment of receptive and expressive language (disorder) |
| 762318002 | http://snomed.info/sct | Developmental language disorder co-occurrent with impairment of expressive language (disorder) |
| 762347009 | http://snomed.info/sct | Childhood onset conduct-dissocial disorder (disorder) |
| 763136000 | http://snomed.info/sct | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder) |
| 763186006 | http://snomed.info/sct | Grubben, De Cock, Borghgraef syndrome (disorder) |
| 763278004 | http://snomed.info/sct | Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
| 763320005 | http://snomed.info/sct | Craniofaciofrontodigital syndrome (disorder) |
| 763344007 | http://snomed.info/sct | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder) |
| 763350002 | http://snomed.info/sct | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (disorder) |
| 763353000 | http://snomed.info/sct | Cerebrofacioarticular syndrome (disorder) |
| 763404001 | http://snomed.info/sct | Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) |
| 763615003 | http://snomed.info/sct | Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) |
| 763618001 | http://snomed.info/sct | Wiedemann Steiner syndrome (disorder) |
| 763626009 | http://snomed.info/sct | Intellectual disability due to nutritional deficiency (disorder) |
| 763665007 | http://snomed.info/sct | Craniodigital syndrome and intellectual disability syndrome (disorder) |
| 763722004 | http://snomed.info/sct | Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) |
| 763741001 | http://snomed.info/sct | Intellectual disability, alacrima, achalasia syndrome (disorder) |
| 763742008 | http://snomed.info/sct | Intellectual disability, polydactyly, uncombable hair syndrome (disorder) |
| 763743003 | http://snomed.info/sct | Intellectual disability, spasticity, ectrodactyly syndrome (disorder) |
| 763744009 | http://snomed.info/sct | Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) |
| 763745005 | http://snomed.info/sct | Intellectual disability Wolff type (disorder) |
| 763773007 | http://snomed.info/sct | Macrocephaly and developmental delay syndrome (disorder) |
| 763795006 | http://snomed.info/sct | Malan overgrowth syndrome (disorder) |
| 763797003 | http://snomed.info/sct | Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) |
| 763837007 | http://snomed.info/sct | Oro-facial digital syndrome type 14 (disorder) |
| 763861000 | http://snomed.info/sct | Pachygyria, intellectual disability, epilepsy syndrome (disorder) |
| 763890006 | http://snomed.info/sct | Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) |
| 764455002 | http://snomed.info/sct | Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) |
| 764732004 | http://snomed.info/sct | Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
| 764861005 | http://snomed.info/sct | Intellectual disability Birk-Barel type (disorder) |
| 764950001 | http://snomed.info/sct | Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder) |
| 764959000 | http://snomed.info/sct | Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder) |
| 765089003 | http://snomed.info/sct | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) |
| 765093009 | http://snomed.info/sct | Rolandic epilepsy, speech dyspraxia syndrome (disorder) |
| 765170001 | http://snomed.info/sct | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) |
| 765434008 | http://snomed.info/sct | Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder) |
| 765471005 | http://snomed.info/sct | X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder) |
| 765758008 | http://snomed.info/sct | Microcephalic primordial dwarfism Montreal type (disorder) |
| 765761009 | http://snomed.info/sct | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
| 766753005 | http://snomed.info/sct | Nijmegen breakage syndrome-like disorder (disorder) |
| 766824003 | http://snomed.info/sct | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
| 766870005 | http://snomed.info/sct | Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
| 766871009 | http://snomed.info/sct | Diencephalic mesencephalic junction dysplasia (disorder) |
| 768473009 | http://snomed.info/sct | Purine rich element binding protein A syndrome (disorder) |
| 768555009 | http://snomed.info/sct | 5q31.3 microdeletion syndrome (disorder) |
| 768677000 | http://snomed.info/sct | Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder) |
| 76880004 | http://snomed.info/sct | Angelman syndrome (disorder) |
| 768843007 | http://snomed.info/sct | Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
| 770404004 | http://snomed.info/sct | Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) |
| 770431001 | http://snomed.info/sct | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) |
| 770564004 | http://snomed.info/sct | Microcephalic primordial dwarfism Alazami type (disorder) |
| 770565003 | http://snomed.info/sct | Microcephalic primordial dwarfism Dauber type (disorder) |
| 770604006 | http://snomed.info/sct | X-linked cerebral, cerebellar, coloboma syndrome (disorder) |
| 770679002 | http://snomed.info/sct | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) |
| 770719004 | http://snomed.info/sct | 3q27.3 microdeletion syndrome (disorder) |
| 770721009 | http://snomed.info/sct | Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) |
| 770723007 | http://snomed.info/sct | Optic atrophy, intellectual disability syndrome (disorder) |
| 770725000 | http://snomed.info/sct | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder) |
| 770750002 | http://snomed.info/sct | Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
| 770751003 | http://snomed.info/sct | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) |
| 770755007 | http://snomed.info/sct | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) |
| 770756008 | http://snomed.info/sct | 2p13.2 microdeletion syndrome (disorder) |
| 770790004 | http://snomed.info/sct | Developmental delay with autism spectrum disorder and gait instability (disorder) |
| 770793002 | http://snomed.info/sct | 5p13 microduplication syndrome (disorder) |
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| 770898002 | http://snomed.info/sct | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) |
| 770901001 | http://snomed.info/sct | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) |
| 770907002 | http://snomed.info/sct | Kagami Ogata syndrome (disorder) |
| 770941005 | http://snomed.info/sct | Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) |
| 771074000 | http://snomed.info/sct | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) |
| 771077007 | http://snomed.info/sct | Intellectual disability, short stature, hypertelorism syndrome (disorder) |
| 771148008 | http://snomed.info/sct | X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) |
| 771149000 | http://snomed.info/sct | Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) |
| 771179007 | http://snomed.info/sct | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) |
| 771262009 | http://snomed.info/sct | Pseudoleprechaunism syndrome Patterson type (disorder) |
| 771336003 | http://snomed.info/sct | Polymicrogyria with optic nerve hypoplasia (disorder) |
| 771448004 | http://snomed.info/sct | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) |
| 771470001 | http://snomed.info/sct | Jawad syndrome (disorder) |
| 771472009 | http://snomed.info/sct | Developmental and speech delay due to SRY-box 5 deficiency (disorder) |
| 771476007 | http://snomed.info/sct | Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
| 771477003 | http://snomed.info/sct | 15q overgrowth syndrome (disorder) |
| 771512003 | http://snomed.info/sct | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder) |
| 772127009 | http://snomed.info/sct | White Sutton syndrome (disorder) |
| 772224009 | http://snomed.info/sct | Warburg micro syndrome (disorder) |
| 772225005 | http://snomed.info/sct | RAB18, member RAS oncogene family deficiency (disorder) |
| 77287004 | http://snomed.info/sct | Borderline intellectual disability (disorder) |
| 773230003 | http://snomed.info/sct | Cyclin-dependent kinase-like 5 deficiency (disorder) |
| 773274001 | http://snomed.info/sct | X-linked intellectual disability, craniofacioskeletal syndrome (disorder) |
| 773303005 | http://snomed.info/sct | Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
| 773307006 | http://snomed.info/sct | Zechi Ceide syndrome (disorder) |
| 773329005 | http://snomed.info/sct | CK syndrome (disorder) |
| 773398005 | http://snomed.info/sct | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) |
| 773400009 | http://snomed.info/sct | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder) |
| 773404000 | http://snomed.info/sct | Roifman syndrome (disorder) |
| 773405004 | http://snomed.info/sct | Intellectual disability with strabismus syndrome (disorder) |
| 773416006 | http://snomed.info/sct | Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) |
| 773418007 | http://snomed.info/sct | Xylosyltransferase 1 congenital disorder of glycosylation (disorder) |
| 773419004 | http://snomed.info/sct | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) |
| 773493002 | http://snomed.info/sct | 9q31.1q31.3 microdeletion syndrome (disorder) |
| 773494008 | http://snomed.info/sct | 14q24.1q24.3 microdeletion syndrome (disorder) |
| 773498006 | http://snomed.info/sct | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) |
| 773547003 | http://snomed.info/sct | 13q12.3 microdeletion syndrome (disorder) |
| 773548008 | http://snomed.info/sct | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) |
| 773551001 | http://snomed.info/sct | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) |
| 773552008 | http://snomed.info/sct | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder) |
| 773553003 | http://snomed.info/sct | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) |
| 773554009 | http://snomed.info/sct | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) |
| 773556006 | http://snomed.info/sct | Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) |
| 773581009 | http://snomed.info/sct | Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome (disorder) |
| 773583007 | http://snomed.info/sct | Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
| 773587008 | http://snomed.info/sct | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) |
| 773621003 | http://snomed.info/sct | Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
| 773648002 | http://snomed.info/sct | Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) |
| 773670004 | http://snomed.info/sct | Distal Xq28 microduplication syndrome (disorder) |
| 773692000 | http://snomed.info/sct | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) |
| 773735007 | http://snomed.info/sct | Deafness with onychodystrophy syndrome (disorder) |
| 773769008 | http://snomed.info/sct | Ataxia, photosensitivity, short stature syndrome (disorder) |
| 773772001 | http://snomed.info/sct | Rare non-syndromic intellectual disability (disorder) |
| 773984007 | http://snomed.info/sct | Piebald trait with neurologic defects syndrome (disorder) |
| 774068004 | http://snomed.info/sct | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) |
| 774070008 | http://snomed.info/sct | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) |
| 774071007 | http://snomed.info/sct | Pancytopenia with developmental delay syndrome (disorder) |
| 774102003 | http://snomed.info/sct | Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
| 774149004 | http://snomed.info/sct | Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) |
| 774203000 | http://snomed.info/sct | Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) |
| 774204006 | http://snomed.info/sct | Growth retardation, mild developmental delay, chronic hepatitis syndrome (disorder) |
| 776204008 | http://snomed.info/sct | Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder) |
| 777998000 | http://snomed.info/sct | Temtamy preaxial brachydactyly syndrome (disorder) |
| 778009001 | http://snomed.info/sct | Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) |
| 778011005 | http://snomed.info/sct | Severe intellectual disability and progressive spastic paraplegia (disorder) |
| 778023004 | http://snomed.info/sct | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) |
| 778025006 | http://snomed.info/sct | Atypical hypotonia cystinuria syndrome (disorder) |
| 778026007 | http://snomed.info/sct | Lethal polymalformative syndrome Boissel type (disorder) |
| 780827006 | http://snomed.info/sct | Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) |
| 782722002 | http://snomed.info/sct | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) |
| 782723007 | http://snomed.info/sct | Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
| 782736007 | http://snomed.info/sct | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) |
| 782753000 | http://snomed.info/sct | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder) |
| 782755007 | http://snomed.info/sct | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
| 782757004 | http://snomed.info/sct | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) |
| 782772000 | http://snomed.info/sct | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) |
| 782825008 | http://snomed.info/sct | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder) |
| 782828005 | http://snomed.info/sct | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) |
| 782877002 | http://snomed.info/sct | Xp22.13p22.2 duplication syndrome (disorder) |
| 782886007 | http://snomed.info/sct | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) |
| 782911008 | http://snomed.info/sct | Hereditary cryohydrocytosis with reduced stomatin (disorder) |
| 782941005 | http://snomed.info/sct | Richieri Costa-da Silva syndrome (disorder) |
| 782945001 | http://snomed.info/sct | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
| 783005002 | http://snomed.info/sct | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder) |
| 783061008 | http://snomed.info/sct | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) |
| 783089006 | http://snomed.info/sct | Macrocephaly, intellectual disability, autism syndrome (disorder) |
| 783174004 | http://snomed.info/sct | Congenital muscular dystrophy with intellectual disability (disorder) |
| 783619003 | http://snomed.info/sct | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) |
| 783702009 | http://snomed.info/sct | X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (disorder) |
| 783703004 | http://snomed.info/sct | White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder) |
| 785298001 | http://snomed.info/sct | Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder) |
| 785726009 | http://snomed.info/sct | Hyperekplexia epilepsy syndrome (disorder) |
| 787093004 | http://snomed.info/sct | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
| 787171006 | http://snomed.info/sct | 21q22.11q22.12 microdeletion syndrome (disorder) |
| 787174003 | http://snomed.info/sct | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) |
| 787175002 | http://snomed.info/sct | Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) |
| 788417006 | http://snomed.info/sct | Alopecia, epilepsy, intellectual disability syndrome Moynahan type (disorder) |
| 788584007 | http://snomed.info/sct | Blepharophimosis, intellectual disability syndrome (disorder) |
| 79385002 | http://snomed.info/sct | Lowe syndrome (disorder) |
| 816067005 | http://snomed.info/sct | Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) |
| 838441009 | http://snomed.info/sct | Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) |
| 86765009 | http://snomed.info/sct | Mild intellectual disability (disorder) |
| 870260008 | http://snomed.info/sct | Pervasive developmental disorder with marked impairment of functional language with loss of previously acquired skills (disorder) |
| 870261007 | http://snomed.info/sct | Pervasive developmental disorder with marked impairment of functional language without loss of previously acquired skills (disorder) |
| 870262000 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills (disorder) |
| 870263005 | http://snomed.info/sct | Pervasive developmental disorder with impairment of functional language (disorder) |
| 870264004 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development and pervasive impairment of functional language without loss of previously acquired skills (disorder) |
| 870265003 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development with loss of previously acquired skills (disorder) |
| 870266002 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills (disorder) |
| 870267006 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills (disorder) |
| 870268001 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills (disorder) |
| 870269009 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills (disorder) |
| 870270005 | http://snomed.info/sct | Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language with loss of previously acquired skills (disorder) |
| 870280009 | http://snomed.info/sct | Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills (disorder) |
| 870282001 | http://snomed.info/sct | Pervasive developmental disorder with severe impairment of functional language without loss of previously acquired skills (disorder) |
| 870303005 | http://snomed.info/sct | Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills (disorder) |
| 870304004 | http://snomed.info/sct | Pervasive developmental disorder with complete impairment of functional language without loss of previously acquired skills (disorder) |
| 870305003 | http://snomed.info/sct | Pervasive developmental disorder with cognitive developmental delay and marked impairment of functional language (disorder) |
| 870306002 | http://snomed.info/sct | Pervasive developmental disorder with complete impairment of functional language (disorder) |
| 870307006 | http://snomed.info/sct | Pervasive developmental disorder with abscence of functional language (disorder) |
| 870308001 | http://snomed.info/sct | Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) |
| 874931001 | http://snomed.info/sct | Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
| 879939002 | http://snomed.info/sct | 14q32 deletion syndrome (disorder) |
| 890118006 | http://snomed.info/sct | Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
| 89381000119107 | http://snomed.info/sct | Moderate receptive language delay (disorder) |
| 89391000119105 | http://snomed.info/sct | Severe receptive language delay (disorder) |
| 89392001 | http://snomed.info/sct | Prader-Willi syndrome (disorder) |
| 89501000119108 | http://snomed.info/sct | Mild receptive language delay (disorder) |
| 9527009 | http://snomed.info/sct | Tetrasomy 12p syndrome (disorder) |
Produced 08 Sep 2023