CH EMR (R4)
0.1.0 - ci-build
CH EMR (R4), published by HL7 Switzerland. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/ehealthsuisse/ch-emr/ and changes regularly. See the Directory of published versions
| Official URL: http://fhir.ch/ig/ch-emr/ValueSet/ch-emr-cognitive-disability-types-vs | Version: 0.1.0 | |||
| Active as of 2025-01-15 | Computable Name: ChEmrCognitiveDisabilityTypesVS | |||
Copyright/Legal: CC0-1.0 |
||||
Value set for the types of cognitive disabilities based on SNOMED CT.
References
This value set includes codes based on the following rules:
http://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 386806002 (Impaired cognition (finding))http://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 228156007 (Intellectual functioning disability)http://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 110351007 (Psychiatric behavioral disability)http://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 280965007 (Behavioral disability)http://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 47437004 (Mental handicap)http://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 443656000 (Developmentally disabled (finding))http://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 52448006 (Dementia)
Expansion from tx.fhir.ch based on SNOMED CT Swiss Edition edition 07-Dec 2025
This value set expansion contains 865 concepts.
| System | Code | Display (en) | Inactive | status | JSON | XML |
http://snomed.info/sct | 386806002 | Impaired cognition | ||||
http://snomed.info/sct | 281004 | Dementia associated with alcoholism | ||||
http://snomed.info/sct | 613003 | Fragile X syndrome | ||||
http://snomed.info/sct | 1393001 | Lenz-Majewski hyperostosis syndrome | ||||
http://snomed.info/sct | 4817008 | Primary degenerative dementia of the Alzheimer type, senile onset, with delirium | ||||
http://snomed.info/sct | 5619004 | Bardet-Biedl syndrome | ||||
http://snomed.info/sct | 6149008 | Amnesia for remote events | ||||
http://snomed.info/sct | 6475002 | Primary degenerative dementia of the Alzheimer type, presenile onset, uncomplicated | ||||
http://snomed.info/sct | 9345005 | Dialysis dementia | ||||
http://snomed.info/sct | 9527009 | Killian-Teschler-Nicola syndrome | ||||
http://snomed.info/sct | 10007009 | Coffin-Siris syndrome | ||||
http://snomed.info/sct | 10349009 | Multi-infarct dementia with delirium | ||||
http://snomed.info/sct | 10532003 | Primary degenerative dementia of the Alzheimer type, presenile onset, with depression | ||||
http://snomed.info/sct | 12348006 | Presenile dementia | ||||
http://snomed.info/sct | 14070001 | Multi-infarct dementia with depression | ||||
http://snomed.info/sct | 15182000 | Coffin-Lowry syndrome | ||||
http://snomed.info/sct | 15662003 | Senile dementia | ||||
http://snomed.info/sct | 17827007 | Cross syndrome | ||||
http://snomed.info/sct | 21634003 | Borjeson-Forssman-Lehmann syndrome | ||||
http://snomed.info/sct | 25772007 | Multi-infarct dementia with delusions | ||||
http://snomed.info/sct | 26581009 | Retrospective falsification | ||||
http://snomed.info/sct | 26852004 | Primary degenerative dementia of the Alzheimer type, senile onset, with depression | ||||
http://snomed.info/sct | 26929004 | Alzheimer's disease | ||||
http://snomed.info/sct | 31216003 | Profound mental retardation (I.Q. below 20) | ||||
http://snomed.info/sct | 32541007 | Paramnesia | ||||
http://snomed.info/sct | 32875003 | Inhalant-induced persisting dementia | ||||
http://snomed.info/sct | 33982008 | Hyperphosphatasemia with mental retardation | ||||
http://snomed.info/sct | 40425004 | Postconcussion syndrome | ||||
http://snomed.info/sct | 40700009 | Severe mental retardation (I.Q. 20-34) | ||||
http://snomed.info/sct | 42176003 | Amnesia for recent events | ||||
http://snomed.info/sct | 48167000 | Amnesia | ||||
http://snomed.info/sct | 50056009 | Lysinuric protein intolerance, type 1 | ||||
http://snomed.info/sct | 51921000 | Retrograde amnesia | ||||
http://snomed.info/sct | 51928006 | General paresis | ||||
http://snomed.info/sct | 52448006 | Dementia | ||||
http://snomed.info/sct | 54502004 | Primary degenerative dementia of the Alzheimer type, presenile onset, with delusions | ||||
http://snomed.info/sct | 55009008 | Primary degenerative dementia of the Alzheimer type, senile onset, with delusions | ||||
http://snomed.info/sct | 55533009 | Forgetful | ||||
http://snomed.info/sct | 56267009 | Multi-infarct dementia | ||||
http://snomed.info/sct | 57917004 | Seckel syndrome | ||||
http://snomed.info/sct | 58756001 | Huntington's chorea | ||||
http://snomed.info/sct | 59252009 | Cutis laxa-corneal clouding-oligophrenia syndrome | ||||
http://snomed.info/sct | 59651006 | Sedative, hypnotic AND/OR anxiolytic-induced persisting dementia | ||||
http://snomed.info/sct | 61152003 | Moderate mental retardation (I.Q. 35-49) | ||||
http://snomed.info/sct | 65096006 | Primary degenerative dementia of the Alzheimer type, presenile onset, with delirium | ||||
http://snomed.info/sct | 66108005 | Primary degenerative dementia of the Alzheimer type, senile onset, uncomplicated | ||||
http://snomed.info/sct | 68618008 | Rett's disorder | ||||
http://snomed.info/sct | 70936005 | Multi-infarct dementia, uncomplicated | ||||
http://snomed.info/sct | 76789006 | Information conversion problem | ||||
http://snomed.info/sct | 76880004 | Angelman syndrome | ||||
http://snomed.info/sct | 77287004 | Borderline mental retardation (I.Q. 70-85) | ||||
http://snomed.info/sct | 79385002 | Lowe syndrome | ||||
http://snomed.info/sct | 82959004 | Dementia paralytica juvenilis | ||||
http://snomed.info/sct | 84209002 | Psychogenic amnesia | ||||
http://snomed.info/sct | 86765009 | Mild mental retardation (I.Q. 50-70) | ||||
http://snomed.info/sct | 88822006 | Anterograde amnesia | ||||
http://snomed.info/sct | 90099008 | Subcortical leukoencephalopathy | ||||
http://snomed.info/sct | 102891000 | Age-related cognitive decline | ||||
http://snomed.info/sct | 109478007 | Kohlschutter's syndrome | ||||
http://snomed.info/sct | 110352000 | Minimal cognitive impairment | ||||
http://snomed.info/sct | 110355003 | Lack of thinking ability | ||||
http://snomed.info/sct | 110359009 | Intellectual disability | ||||
http://snomed.info/sct | 111480006 | Psychoactive substance-induced organic dementia | ||||
http://snomed.info/sct | 116340000 | Disturbance of cognitive learning | ||||
http://snomed.info/sct | 130964008 | Impaired environmental interpretation syndrome | ||||
http://snomed.info/sct | 162200009 | Temporary memory loss | ||||
http://snomed.info/sct | 191449005 | Uncomplicated senile dementia | ||||
http://snomed.info/sct | 191451009 | Uncomplicated presenile dementia | ||||
http://snomed.info/sct | 191452002 | Presenile dementia with delirium | ||||
http://snomed.info/sct | 191454001 | Presenile dementia with paranoia | ||||
http://snomed.info/sct | 191455000 | Presenile dementia with depression | ||||
http://snomed.info/sct | 191457008 | Senile dementia with depressive or paranoid features | ||||
http://snomed.info/sct | 191458003 | Senile dementia with paranoia | ||||
http://snomed.info/sct | 191459006 | Senile dementia with depression | ||||
http://snomed.info/sct | 191461002 | Senile dementia with delirium | ||||
http://snomed.info/sct | 191463004 | Uncomplicated arteriosclerotic dementia | ||||
http://snomed.info/sct | 191464005 | Arteriosclerotic dementia with delirium | ||||
http://snomed.info/sct | 191465006 | Arteriosclerotic dementia with paranoia | ||||
http://snomed.info/sct | 191466007 | Arteriosclerotic dementia with depression | ||||
http://snomed.info/sct | 191493005 | Drug-induced dementia | ||||
http://snomed.info/sct | 191519005 | Dementia associated with another disease | ||||
http://snomed.info/sct | 192071009 | Mild memory disturbance | ||||
http://snomed.info/sct | 225037001 | Minor memory lapses | ||||
http://snomed.info/sct | 225038006 | Memory lapses | ||||
http://snomed.info/sct | 225039003 | Mixes past with present | ||||
http://snomed.info/sct | 225040001 | Localized dissociative amnesia | ||||
http://snomed.info/sct | 229676007 | Language-related cognitive disorder | ||||
http://snomed.info/sct | 230265002 | Familial Alzheimer's disease of early onset | ||||
http://snomed.info/sct | 230266001 | Non-familial Alzheimer's disease of early onset | ||||
http://snomed.info/sct | 230267005 | Familial Alzheimer's disease of late onset | ||||
http://snomed.info/sct | 230268000 | Non-familial Alzheimer's disease of late onset | ||||
http://snomed.info/sct | 230269008 | Focal Alzheimer's disease | ||||
http://snomed.info/sct | 230270009 | Frontotemporal dementia | ||||
http://snomed.info/sct | 230271008 | Pick's disease with Pick bodies | ||||
http://snomed.info/sct | 230272001 | Pick's disease with Pick cells and no Pick bodies | ||||
http://snomed.info/sct | 230274000 | Frontal lobe degeneration with motor neurone disease | ||||
http://snomed.info/sct | 230280008 | Progressive aphasia in Alzheimer's disease | ||||
http://snomed.info/sct | 230282000 | Post-traumatic dementia | ||||
http://snomed.info/sct | 230285003 | Vascular dementia of acute onset | ||||
http://snomed.info/sct | 230286002 | Subcortical vascular dementia | ||||
http://snomed.info/sct | 230287006 | Mixed cortical and subcortical vascular dementia | ||||
http://snomed.info/sct | 230288001 | Semantic dementia | ||||
http://snomed.info/sct | 230289009 | Patchy dementia | ||||
http://snomed.info/sct | 230299004 | Juvenile onset Huntington's disease | ||||
http://snomed.info/sct | 230300007 | Late onset Huntington's disease | ||||
http://snomed.info/sct | 230301006 | Akinetic-rigid form of Huntington's disease | ||||
http://snomed.info/sct | 230736007 | Transient global amnesia | ||||
http://snomed.info/sct | 230782004 | Dysequilibrium syndrome | ||||
http://snomed.info/sct | 232059000 | Laurence-Moon syndrome | ||||
http://snomed.info/sct | 234146006 | Hennekam lymphangiectasia-lymphoedema syndrome | ||||
http://snomed.info/sct | 236529001 | Prune belly syndrome with pulmonic stenosis, mental retardation and deafness | ||||
http://snomed.info/sct | 247607004 | Amnesia for day to day facts | ||||
http://snomed.info/sct | 247611005 | Amnesia for important personal information | ||||
http://snomed.info/sct | 253176002 | Gillespie syndrome | ||||
http://snomed.info/sct | 268612007 | Senile and presenile organic psychotic conditions | ||||
http://snomed.info/sct | 275277000 | Post-traumatic amnesia | ||||
http://snomed.info/sct | 278857002 | DFT - Dementia frontal lobe type | ||||
http://snomed.info/sct | 283878007 | Impairment of working memory | ||||
http://snomed.info/sct | 312991009 | Senile dementia of the Lewy body type | ||||
http://snomed.info/sct | 371024007 | Senile dementia with delusion | ||||
http://snomed.info/sct | 371026009 | Senile dementia with psychosis | ||||
http://snomed.info/sct | 386805003 | Mild cognitive disorder | ||||
http://snomed.info/sct | 386807006 | Memory impairment | ||||
http://snomed.info/sct | 389273002 | Cherubism with gingival fibromatosis | ||||
http://snomed.info/sct | 395689002 | Transient epileptic amnesia | ||||
http://snomed.info/sct | 412787009 | Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | ||||
http://snomed.info/sct | 416106008 | Disturbance of memory for order of events | ||||
http://snomed.info/sct | 416780008 | Primary degenerative dementia of the Alzheimer type, presenile onset | ||||
http://snomed.info/sct | 416975007 | Primary degenerative dementia of the Alzheimer type, senile onset | ||||
http://snomed.info/sct | 420614009 | Organic dementia with acquired immunodeficiency syndrome | ||||
http://snomed.info/sct | 421023003 | Presenile dementia with AIDS (acquired immunodeficiency syndrome) | ||||
http://snomed.info/sct | 421529006 | Acquired immune deficiency syndrome-related dementia | ||||
http://snomed.info/sct | 422437002 | X-linked mental retardation with marfanoid habitus syndrome | ||||
http://snomed.info/sct | 425390006 | Dementia associated with Parkinson's Disease | ||||
http://snomed.info/sct | 425805004 | Cognitive developmental delay | ||||
http://snomed.info/sct | 429458009 | Dementia due to Creutzfeldt-Jakob disease | ||||
http://snomed.info/sct | 429998004 | Vascular dementia | ||||
http://snomed.info/sct | 432091002 | Savant syndrome | ||||
http://snomed.info/sct | 433081000 | Organic amnestic language disorder | ||||
http://snomed.info/sct | 442212003 | Residual cognitive deficit as late effect of cerebrovascular accident | ||||
http://snomed.info/sct | 442344002 | Dementia due to Huntington chorea | ||||
http://snomed.info/sct | 443265004 | Cognitive disorder | ||||
http://snomed.info/sct | 698624003 | Dementia associated with cerebral lipidosis | ||||
http://snomed.info/sct | 698625002 | Dementia associated with normal pressure hydrocephalus | ||||
http://snomed.info/sct | 698626001 | Dementia associated with multiple sclerosis | ||||
http://snomed.info/sct | 698687007 | Post-traumatic dementia with behavioural change | ||||
http://snomed.info/sct | 698691002 | Cognitive disorder in remission | ||||
http://snomed.info/sct | 698725008 | Dementia associated with neurosyphilis | ||||
http://snomed.info/sct | 698726009 | Dementia associated with viral encephalitis | ||||
http://snomed.info/sct | 698781002 | Dementia associated with cerebral anoxia | ||||
http://snomed.info/sct | 698948009 | Vascular dementia in remission | ||||
http://snomed.info/sct | 698949001 | Dementia in remission | ||||
http://snomed.info/sct | 698954005 | Primary degenerative dementia of the Alzheimer type, senile onset in remission | ||||
http://snomed.info/sct | 698955006 | Primary degenerative dementia of the Alzheimer type, presenile onset in remission | ||||
http://snomed.info/sct | 699297004 | Ohdo syndrome, Maat-Kievit-Brunner type | ||||
http://snomed.info/sct | 699298009 | Say-Barber-Biesecker-Young-Simpson syndrome | ||||
http://snomed.info/sct | 699316006 | Facial dysmorphism, intellectual deficit, short stature and hearing loss | ||||
http://snomed.info/sct | 699669001 | Renpenning syndrome | ||||
http://snomed.info/sct | 702327009 | Monocarboxylate transporter 8 deficiency | ||||
http://snomed.info/sct | 702344008 | Pitt-Hopkins syndrome | ||||
http://snomed.info/sct | 702346005 | Proximal 11p deletion syndrome | ||||
http://snomed.info/sct | 702354007 | Christianson syndrome | ||||
http://snomed.info/sct | 702356009 | PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism | ||||
http://snomed.info/sct | 702393003 | Frontotemporal dementia with gene located on 3p11 | ||||
http://snomed.info/sct | 702412005 | Partington syndrome | ||||
http://snomed.info/sct | 702416008 | Snyder-Robinson syndrome | ||||
http://snomed.info/sct | 702423009 | Deafness-dystonia syndrome | ||||
http://snomed.info/sct | 702426001 | Hereditary dysphasic disinhibition dementia | ||||
http://snomed.info/sct | 702429008 | Familial Pick's disease | ||||
http://snomed.info/sct | 702441001 | Lethal ataxia-deafness-optic atrophy | ||||
http://snomed.info/sct | 702955000 | Moderate cognitive impairment | ||||
http://snomed.info/sct | 702956004 | Severe cognitive impairment | ||||
http://snomed.info/sct | 703389002 | CASK - Calcium/calmodulin-dependent serine protein kinase related intellectual disability | ||||
http://snomed.info/sct | 703526007 | Progressive epilepsy with mental retardation | ||||
http://snomed.info/sct | 703535000 | Mowat-Wilson syndrome | ||||
http://snomed.info/sct | 709073001 | Neurocognitive disorder | ||||
http://snomed.info/sct | 713488003 | Presenile dementia co-occurrent with human immunodeficiency virus infection | ||||
http://snomed.info/sct | 713844000 | Dementia co-occurrent with human immunodeficiency virus infection | ||||
http://snomed.info/sct | 715409005 | Trigonocephaly C syndrome | ||||
http://snomed.info/sct | 715428003 | Gurrieri Sammito Bellussi syndrome | ||||
http://snomed.info/sct | 715441004 | McDonough syndrome | ||||
http://snomed.info/sct | 715628009 | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome | ||||
http://snomed.info/sct | 715737004 | Parkinsonism co-occurrent with dementia of Guadeloupe | ||||
http://snomed.info/sct | 715989002 | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome | ||||
http://snomed.info/sct | 716024001 | Goniodysgenesis with intellectual disability and short stature syndrome | ||||
http://snomed.info/sct | 716089008 | Cranio-facio-digito-genital syndrome | ||||
http://snomed.info/sct | 716096005 | Hypospadias and intellectual disability syndrome Goldblatt type | ||||
http://snomed.info/sct | 716107009 | Early onset parkinsonism and intellectual disability syndrome | ||||
http://snomed.info/sct | 716112005 | Microcephaly with deafness and intellectual disability syndrome | ||||
http://snomed.info/sct | 716191002 | Alopecia and intellectual disability syndrome | ||||
http://snomed.info/sct | 716306006 | Acquired language comprehension impairment | ||||
http://snomed.info/sct | 716334004 | Intellectual disability and short stature with hand contracture and genital anomaly syndrome | ||||
http://snomed.info/sct | 716635007 | Cognitive communication disorder | ||||
http://snomed.info/sct | 716667005 | Right temporal atrophy variant frontotemporal dementia | ||||
http://snomed.info/sct | 716706009 | Female restricted epilepsy with intellectual disability syndrome | ||||
http://snomed.info/sct | 716709002 | FRAXE intellectual disability syndrome | ||||
http://snomed.info/sct | 716994006 | Behavioral variant of frontotemporal dementia | ||||
http://snomed.info/sct | 716996008 | Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome | ||||
http://snomed.info/sct | 717157006 | Trisomy 10p | ||||
http://snomed.info/sct | 717222003 | Microphthalmia with ankyloblepharon and intellectual disability syndrome | ||||
http://snomed.info/sct | 717822006 | Goldberg Shprintzen megacolon syndrome | ||||
http://snomed.info/sct | 717887003 | Biemond syndrome type 2 | ||||
http://snomed.info/sct | 717913006 | Blepharonasofacial malformation syndrome | ||||
http://snomed.info/sct | 717945001 | Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome | ||||
http://snomed.info/sct | 718226002 | Wolf Hirschhorn syndrome | ||||
http://snomed.info/sct | 718573009 | Achalasia microcephaly syndrome | ||||
http://snomed.info/sct | 718577005 | X-linked intellectual disability Atkin type | ||||
http://snomed.info/sct | 718680001 | Oro-facial digital syndrome type 9 | ||||
http://snomed.info/sct | 718681002 | Oro-facial digital syndrome type 11 | ||||
http://snomed.info/sct | 718766002 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | ||||
http://snomed.info/sct | 718845002 | X-linked intellectual disability with ataxia and apraxia syndrome | ||||
http://snomed.info/sct | 718847005 | X-linked neurodegenerative syndrome Hamel type | ||||
http://snomed.info/sct | 718848000 | Fried syndrome | ||||
http://snomed.info/sct | 718896000 | X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome | ||||
http://snomed.info/sct | 718897009 | X-linked intellectual disability Seemanova type | ||||
http://snomed.info/sct | 718900002 | Syndromic X-linked intellectual disability type 11 | ||||
http://snomed.info/sct | 718905007 | X-linked intellectual disability Shrimpton type | ||||
http://snomed.info/sct | 718908009 | X-linked intellectual disability Siderius type | ||||
http://snomed.info/sct | 718909001 | X-linked intellectual disability Stevenson type | ||||
http://snomed.info/sct | 718910006 | X-linked intellectual disability Stocco Dos Santos type | ||||
http://snomed.info/sct | 718911005 | X-linked intellectual disability Stoll type | ||||
http://snomed.info/sct | 718912003 | X-linked intellectual disability Turner type | ||||
http://snomed.info/sct | 718914002 | X-linked intellectual disability Van Esch type | ||||
http://snomed.info/sct | 719009006 | X-linked intellectual disability Wilson type | ||||
http://snomed.info/sct | 719010001 | X-linked intellectual disability Schimke type | ||||
http://snomed.info/sct | 719011002 | X-linked intellectual disability Pai type | ||||
http://snomed.info/sct | 719012009 | X-linked intellectual disability Miles Carpenter type | ||||
http://snomed.info/sct | 719013004 | X-linked intellectual disability Cilliers type | ||||
http://snomed.info/sct | 719016007 | X-linked intellectual disability Cantagrel type | ||||
http://snomed.info/sct | 719017003 | X-linked intellectual disability Armfield type | ||||
http://snomed.info/sct | 719018008 | X-linked intellectual disability Abidi type | ||||
http://snomed.info/sct | 719020006 | Pallister W syndrome | ||||
http://snomed.info/sct | 719042007 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome | ||||
http://snomed.info/sct | 719046005 | 12q14 microdeletion syndrome | ||||
http://snomed.info/sct | 719069008 | Shprintzen Goldberg craniosynostosis syndrome | ||||
http://snomed.info/sct | 719097002 | BSG syndrome | ||||
http://snomed.info/sct | 719102004 | Congenital cataract with ataxia and deafness syndrome | ||||
http://snomed.info/sct | 719136005 | X-linked intellectual disability with cerebellar hypoplasia syndrome | ||||
http://snomed.info/sct | 719138006 | X-linked intellectual disability with cubitus valgus and dysmorphism syndrome | ||||
http://snomed.info/sct | 719139003 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome | ||||
http://snomed.info/sct | 719140001 | X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome | ||||
http://snomed.info/sct | 719155005 | X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | ||||
http://snomed.info/sct | 719156006 | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome | ||||
http://snomed.info/sct | 719157002 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome | ||||
http://snomed.info/sct | 719160009 | Syndromic X-linked intellectual disability type 7 | ||||
http://snomed.info/sct | 719161008 | Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | ||||
http://snomed.info/sct | 719162001 | Radioulnar synostosis with microcephaly and scoliosis syndrome | ||||
http://snomed.info/sct | 719202006 | Spondyloepiphyseal dysplasia tarda Kohn type | ||||
http://snomed.info/sct | 719378009 | Microcephalus with brachydactyly and kyphoscoliosis syndrome | ||||
http://snomed.info/sct | 719380003 | Winship Viljoen Leary syndrome | ||||
http://snomed.info/sct | 719450007 | Disorder of sex development with intellectual disability syndrome | ||||
http://snomed.info/sct | 719466009 | Cleft palate with short stature and vertebral anomaly syndrome | ||||
http://snomed.info/sct | 719583002 | 17q11.2 microduplication syndrome | ||||
http://snomed.info/sct | 719599008 | 19q13.11 microdeletion syndrome | ||||
http://snomed.info/sct | 719600006 | 1p21.3 microdeletion syndrome | ||||
http://snomed.info/sct | 719800009 | DOORS syndrome | ||||
http://snomed.info/sct | 719808002 | Chromosome Xp11.3 microdeletion syndrome | ||||
http://snomed.info/sct | 719810000 | X-linked intellectual disability with seizure and psoriasis syndrome | ||||
http://snomed.info/sct | 719811001 | X-linked intellectual disability Cabezas type | ||||
http://snomed.info/sct | 719812008 | X-linked intellectual disability with plagiocephaly syndrome | ||||
http://snomed.info/sct | 719825000 | Johnson syndrome | ||||
http://snomed.info/sct | 719826004 | X-linked intellectual disability with acromegaly and hyperactivity syndrome | ||||
http://snomed.info/sct | 719834005 | Wilson Turner syndrome | ||||
http://snomed.info/sct | 719842006 | Congenital hypoplasia of ulna and intellectual disability syndrome | ||||
http://snomed.info/sct | 719947004 | Temtamy syndrome | ||||
http://snomed.info/sct | 720010009 | Microphthalmia with brain atrophy syndrome | ||||
http://snomed.info/sct | 720401009 | Cystic fibrosis with gastritis and megaloblastic anemia syndrome | ||||
http://snomed.info/sct | 720468000 | Aniridia and intellectual disability syndrome | ||||
http://snomed.info/sct | 720501007 | Arachnodactyly with abnormal ossification and intellectual disability syndrome | ||||
http://snomed.info/sct | 720502000 | Arachnodactyly and intellectual disability with facial dysmorphism syndrome | ||||
http://snomed.info/sct | 720517001 | Ataxia with deafness and intellectual disability syndrome | ||||
http://snomed.info/sct | 720573009 | Brachymorphism with onychodysplasia and dysphalangism syndrome | ||||
http://snomed.info/sct | 720635002 | Cerebro-facio-thoracic dysplasia | ||||
http://snomed.info/sct | 720639008 | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | ||||
http://snomed.info/sct | 720746006 | Contracture with ectodermal dysplasia and orofacial cleft syndrome | ||||
http://snomed.info/sct | 720748007 | Aural atresia with multiple congenital anomalies and intellectual disability syndrome | ||||
http://snomed.info/sct | 720825005 | Cystic leukoencephalopathy without megalencephaly | ||||
http://snomed.info/sct | 720855003 | Cerebrooculonasal syndrome | ||||
http://snomed.info/sct | 720954000 | Filippi syndrome | ||||
http://snomed.info/sct | 720955004 | Brachycephaly, deafness, cataract, intellectual disability syndrome | ||||
http://snomed.info/sct | 720957007 | Fountain syndrome | ||||
http://snomed.info/sct | 720979002 | Alopecia, contracture, dwarfism, intellectual disability syndrome | ||||
http://snomed.info/sct | 720981000 | Devriendt Vandenberghe Fryns syndrome | ||||
http://snomed.info/sct | 720982007 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | ||||
http://snomed.info/sct | 721007005 | Calderón González Cantu syndrome | ||||
http://snomed.info/sct | 721008000 | Hall Riggs syndrome | ||||
http://snomed.info/sct | 721017000 | Postaxial polydactyly and intellectual disability syndrome | ||||
http://snomed.info/sct | 721073008 | Al Gazali Aziz Salem syndrome | ||||
http://snomed.info/sct | 721086004 | Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome | ||||
http://snomed.info/sct | 721087008 | Deafness and intellectual disability Martin Probst type syndrome | ||||
http://snomed.info/sct | 721089006 | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome | ||||
http://snomed.info/sct | 721146009 | Intellectual disability, epilepsy, bulbous nose syndrome | ||||
http://snomed.info/sct | 721207002 | Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome | ||||
http://snomed.info/sct | 721208007 | Ectodermal dysplasia with blindness syndrome | ||||
http://snomed.info/sct | 721841001 | Hypogonadism with mitral valve prolapse and intellectual disability syndrome | ||||
http://snomed.info/sct | 721843003 | Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome | ||||
http://snomed.info/sct | 721875000 | Juberg Marsidi syndrome | ||||
http://snomed.info/sct | 721883006 | Radioulnar synostosis with developmental delay and hypotonia syndrome | ||||
http://snomed.info/sct | 721973006 | Lipodystrophy, intellectual disability, deafness syndrome | ||||
http://snomed.info/sct | 721974000 | Lowry MacLean syndrome | ||||
http://snomed.info/sct | 722002002 | Intellectual disability, balding, patella luxation, acromicria syndrome | ||||
http://snomed.info/sct | 722031003 | Kapur Toriello syndrome | ||||
http://snomed.info/sct | 722033000 | Macrocephaly, short stature, paraplegia syndrome | ||||
http://snomed.info/sct | 722035007 | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | ||||
http://snomed.info/sct | 722037004 | Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | ||||
http://snomed.info/sct | 722055008 | Oculopalatocerebral syndrome | ||||
http://snomed.info/sct | 722056009 | Oculocerebrofacial syndrome Kaufman type | ||||
http://snomed.info/sct | 722075004 | Orofaciodigital syndrome type 10 | ||||
http://snomed.info/sct | 722105002 | Oro-facial digital syndrome type 5 | ||||
http://snomed.info/sct | 722106001 | Oro-facial digital syndrome type 8 | ||||
http://snomed.info/sct | 722107005 | Ossification anomaly with psychomotor developmental delay syndrome | ||||
http://snomed.info/sct | 722110003 | Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome | ||||
http://snomed.info/sct | 722209002 | Fitzsimmons McLachlan Gilbert syndrome | ||||
http://snomed.info/sct | 722213009 | Severe X-linked intellectual disability Gustavson type | ||||
http://snomed.info/sct | 722281001 | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome | ||||
http://snomed.info/sct | 722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | ||||
http://snomed.info/sct | 722378009 | Congenital cataract with deafness and hypogonadism syndrome | ||||
http://snomed.info/sct | 722379001 | Congenital cataract with hypertrichosis and intellectual disability syndrome | ||||
http://snomed.info/sct | 722380003 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | ||||
http://snomed.info/sct | 722454003 | Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome | ||||
http://snomed.info/sct | 722455002 | Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome | ||||
http://snomed.info/sct | 722456001 | Intellectual disability, developmental delay, contracture syndrome | ||||
http://snomed.info/sct | 722459008 | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome | ||||
http://snomed.info/sct | 722477003 | Toriello Carey syndrome | ||||
http://snomed.info/sct | 722478008 | Skeletal dysplasia with intellectual disability syndrome | ||||
http://snomed.info/sct | 722600006 | Non-amnestic Alzheimer disease | ||||
http://snomed.info/sct | 722977005 | Dementia co-occurrent and due to neurocysticercosis | ||||
http://snomed.info/sct | 722978000 | Toxic dementia | ||||
http://snomed.info/sct | 722979008 | Dementia due to metabolic abnormality | ||||
http://snomed.info/sct | 722980006 | Dementia due to chromosomal anomaly | ||||
http://snomed.info/sct | 723123001 | Ischemic vascular dementia | ||||
http://snomed.info/sct | 723304001 | Microcephaly, seizure, intellectual disability, heart disease syndrome | ||||
http://snomed.info/sct | 723332005 | Isodicentric chromosome 15 syndrome | ||||
http://snomed.info/sct | 723333000 | Faciocardiorenal syndrome | ||||
http://snomed.info/sct | 723336008 | Bindewald Ulmer Muller syndrome | ||||
http://snomed.info/sct | 723365002 | Hypotrichosis and intellectual disability syndrome Lopes type | ||||
http://snomed.info/sct | 723390000 | Rapidly progressive dementia | ||||
http://snomed.info/sct | 723403008 | Richieri Costa Guion Almeida Ramos syndrome | ||||
http://snomed.info/sct | 723410002 | N syndrome | ||||
http://snomed.info/sct | 723441001 | Non-progressive cerebellar ataxia with intellectual disability | ||||
http://snomed.info/sct | 723454008 | Phosphoribosylpyrophosphate synthetase superactivity | ||||
http://snomed.info/sct | 723504000 | Ramos Arroyo syndrome | ||||
http://snomed.info/sct | 723621000 | Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome | ||||
http://snomed.info/sct | 723676007 | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome | ||||
http://snomed.info/sct | 723994004 | Seizures and intellectual disability due to hydroxylysinuria | ||||
http://snomed.info/sct | 724001005 | Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome | ||||
http://snomed.info/sct | 724039002 | Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | ||||
http://snomed.info/sct | 724137002 | MOMO syndrome | ||||
http://snomed.info/sct | 724178000 | Laryngeal abductor paralysis with intellectual disability syndrome | ||||
http://snomed.info/sct | 724207001 | Kleefstra syndrome | ||||
http://snomed.info/sct | 724228005 | Infantile choroidocerebral calcification syndrome | ||||
http://snomed.info/sct | 724760003 | Cognitive impairment co-occurrent and due to primary psychotic disorder | ||||
http://snomed.info/sct | 724776007 | Dementia due to disorder of central nervous system | ||||
http://snomed.info/sct | 724777003 | Dementia due to infectious disease | ||||
http://snomed.info/sct | 724992007 | Epileptic dementia | ||||
http://snomed.info/sct | 725140007 | Temple Baraitser syndrome | ||||
http://snomed.info/sct | 725163002 | X-linked spasticity, intellectual disability, epilepsy syndrome | ||||
http://snomed.info/sct | 725289009 | 5-amino-4-imidazole carboxamide ribosiduria | ||||
http://snomed.info/sct | 725589005 | Bullous dystrophy macular type | ||||
http://snomed.info/sct | 725898002 | Delirium co-occurrent with dementia | ||||
http://snomed.info/sct | 725906006 | Intellectual disability Buenos Aires type | ||||
http://snomed.info/sct | 725908007 | Neurofaciodigitorenal syndrome | ||||
http://snomed.info/sct | 726031001 | CAMOS syndrome | ||||
http://snomed.info/sct | 726621009 | Caudal appendage deafness syndrome | ||||
http://snomed.info/sct | 726669007 | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome | ||||
http://snomed.info/sct | 726670008 | Weaver Williams syndrome | ||||
http://snomed.info/sct | 726672000 | Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | ||||
http://snomed.info/sct | 726709001 | Intellectual disability, cataract, calcified pinna, myopathy syndrome | ||||
http://snomed.info/sct | 726727003 | X-linked intellectual disability Hedera type | ||||
http://snomed.info/sct | 726732002 | X-linked intellectual disability Nascimento type | ||||
http://snomed.info/sct | 732246009 | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome | ||||
http://snomed.info/sct | 732251003 | Cortical blindness, intellectual disability, polydactyly syndrome | ||||
http://snomed.info/sct | 732954002 | Kaler Garrity Stern syndrome | ||||
http://snomed.info/sct | 732957009 | Brachydactyly and preaxial hallux varus syndrome | ||||
http://snomed.info/sct | 732958004 | Spastic paraplegia with precocious puberty syndrome | ||||
http://snomed.info/sct | 732961003 | Lambert syndrome | ||||
http://snomed.info/sct | 733031004 | Epilepsy, microcephaly, skeletal dysplasia syndrome | ||||
http://snomed.info/sct | 733032006 | Epilepsy telangiectasia syndrome | ||||
http://snomed.info/sct | 733049004 | Encephalopathy, intracerebral calcification, retinal degeneration syndrome | ||||
http://snomed.info/sct | 733050004 | Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome | ||||
http://snomed.info/sct | 733062000 | Marfanoid habitus with autosomal recessive intellectual disability syndrome | ||||
http://snomed.info/sct | 733072002 | Stimmler syndrome | ||||
http://snomed.info/sct | 733086003 | Hall Berg Rudolph syndrome | ||||
http://snomed.info/sct | 733088002 | Preaxial polydactyly, colobomata, intellectual disability syndrome | ||||
http://snomed.info/sct | 733097003 | Passwell Goodman Siprkowski syndrome | ||||
http://snomed.info/sct | 733110004 | Van den Bosch syndrome | ||||
http://snomed.info/sct | 733116005 | Aniridia, renal agenesis, psychomotor retardation syndrome | ||||
http://snomed.info/sct | 733117001 | Thumb stiffness, brachydactyly, intellectual disability syndrome | ||||
http://snomed.info/sct | 733184002 | Dementia caused by heavy metal exposure | ||||
http://snomed.info/sct | 733190003 | Dementia due to primary malignant neoplasm of brain | ||||
http://snomed.info/sct | 733191004 | Dementia due to chronic subdural haematoma | ||||
http://snomed.info/sct | 733192006 | Dementia due to herpes encephalitis | ||||
http://snomed.info/sct | 733193001 | Dementia with progressive multifocal leukoencephalopathy | ||||
http://snomed.info/sct | 733194007 | Dementia with Down syndrome | ||||
http://snomed.info/sct | 733417008 | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | ||||
http://snomed.info/sct | 733419006 | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | ||||
http://snomed.info/sct | 733455003 | Spastic paraplegia, glaucoma, intellectual disability syndrome | ||||
http://snomed.info/sct | 733472005 | Microcephalus, glomerulonephritis, marfanoid habitus syndrome | ||||
http://snomed.info/sct | 733522005 | Megalocornea with intellectual disability syndrome | ||||
http://snomed.info/sct | 734017008 | Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome | ||||
http://snomed.info/sct | 734173003 | SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome | ||||
http://snomed.info/sct | 734349003 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | ||||
http://snomed.info/sct | 736314008 | Dissociative neurological symptom disorder co-occurrent with cognitive symptoms | ||||
http://snomed.info/sct | 736317001 | Impaired executive functioning | ||||
http://snomed.info/sct | 762298000 | Cognitive impairment due to toxicity | ||||
http://snomed.info/sct | 762350007 | Dementia due to prion disease | ||||
http://snomed.info/sct | 762351006 | Dementia due to and following injury of head | ||||
http://snomed.info/sct | 762707000 | Subcortical dementia | ||||
http://snomed.info/sct | 763062006 | 2q33.1 microdeletion syndrome | ||||
http://snomed.info/sct | 763136000 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | ||||
http://snomed.info/sct | 763186006 | Developmental delay, hypotonia, extremities hypertrophy syndrome | ||||
http://snomed.info/sct | 763278004 | Dysmorphism, cleft palate, loose skin syndrome | ||||
http://snomed.info/sct | 763320005 | Craniofaciofrontodigital syndrome | ||||
http://snomed.info/sct | 763344007 | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome | ||||
http://snomed.info/sct | 763350002 | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 763353000 | Cerebrofacioarticular syndrome | ||||
http://snomed.info/sct | 763404001 | Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | ||||
http://snomed.info/sct | 763615003 | Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | ||||
http://snomed.info/sct | 763618001 | Wiedemann Steiner syndrome | ||||
http://snomed.info/sct | 763626009 | Intellectual disability due to nutritional deficiency | ||||
http://snomed.info/sct | 763665007 | Scott craniodigital syndrome | ||||
http://snomed.info/sct | 763722004 | Hypotonia, speech impairment, severe cognitive delay syndrome | ||||
http://snomed.info/sct | 763741001 | Intellectual disability, alacrima, achalasia syndrome | ||||
http://snomed.info/sct | 763742008 | Intellectual disability, polydactyly, uncombable hair syndrome | ||||
http://snomed.info/sct | 763743003 | Jancar syndrome | ||||
http://snomed.info/sct | 763744009 | Intellectual disability, brachydactyly, Pierre Robin syndrome | ||||
http://snomed.info/sct | 763745005 | Intellectual disability Wolff type | ||||
http://snomed.info/sct | 763773007 | Macrocephaly and developmental delay syndrome | ||||
http://snomed.info/sct | 763795006 | Malan overgrowth syndrome | ||||
http://snomed.info/sct | 763797003 | Agenesis of corpus callosum and abnormal genitalia syndrome | ||||
http://snomed.info/sct | 763837007 | Oro-facial digital syndrome type 14 | ||||
http://snomed.info/sct | 763861000 | Pachygyria, intellectual disability, epilepsy syndrome | ||||
http://snomed.info/sct | 764455002 | CHOPS syndrome | ||||
http://snomed.info/sct | 764732004 | Zaki Gleeson syndrome | ||||
http://snomed.info/sct | 764861005 | Intellectual disability, hypotonia, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 764950001 | Cryptorchidism, arachnodactyly, intellectual disability syndrome | ||||
http://snomed.info/sct | 764959000 | Chudley Rozdilsky syndrome | ||||
http://snomed.info/sct | 765089003 | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome | ||||
http://snomed.info/sct | 765170001 | Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy | ||||
http://snomed.info/sct | 765325002 | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease | ||||
http://snomed.info/sct | 765434008 | Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability | ||||
http://snomed.info/sct | 765471005 | X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome | ||||
http://snomed.info/sct | 765758008 | Bird-headed dwarfism Montreal type | ||||
http://snomed.info/sct | 765761009 | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome | ||||
http://snomed.info/sct | 766753005 | Nijmegen breakage syndrome-like disorder | ||||
http://snomed.info/sct | 766824003 | Helsmoortel-van der Aa syndrome | ||||
http://snomed.info/sct | 766870005 | Finucane Kurtz Scott syndrome | ||||
http://snomed.info/sct | 766871009 | Diencephalic mesencephalic junction dysplasia | ||||
http://snomed.info/sct | 768843007 | Tatton Brown Rahman overgrowth syndrome | ||||
http://snomed.info/sct | 770404004 | Autosomal recessive chorioretinopathy and microcephaly syndrome | ||||
http://snomed.info/sct | 770431001 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | ||||
http://snomed.info/sct | 770564004 | Microcephalic primordial dwarfism Alazami type | ||||
http://snomed.info/sct | 770565003 | Microcephalic primordial dwarfism Dauber type | ||||
http://snomed.info/sct | 770604006 | X-linked intellectual disability Kroes type | ||||
http://snomed.info/sct | 770679002 | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | ||||
http://snomed.info/sct | 770721009 | Microcephaly, thin corpus callosum, intellectual disability syndrome | ||||
http://snomed.info/sct | 770723007 | Bosch Boonstra Schaaf optic atrophy syndrome | ||||
http://snomed.info/sct | 770725000 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ||||
http://snomed.info/sct | 770750002 | Intellectual disability, seizures, macrocephaly, obesity syndrome | ||||
http://snomed.info/sct | 770751003 | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome | ||||
http://snomed.info/sct | 770754006 | 2p21 microdeletion syndrome without cystinuria | ||||
http://snomed.info/sct | 770755007 | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3 | ||||
http://snomed.info/sct | 770756008 | 2p13.2 microdeletion syndrome | ||||
http://snomed.info/sct | 770790004 | Developmental delay with autism spectrum disorder and gait instability | ||||
http://snomed.info/sct | 770793002 | Trisomy 5p13 | ||||
http://snomed.info/sct | 770794008 | Trisomy 11p15.4 | ||||
http://snomed.info/sct | 770898002 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency | ||||
http://snomed.info/sct | 770901001 | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome | ||||
http://snomed.info/sct | 770907002 | Kagami Ogata syndrome | ||||
http://snomed.info/sct | 770941005 | ANE syndrome | ||||
http://snomed.info/sct | 771074000 | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 771077007 | Intellectual disability, short stature, hypertelorism syndrome | ||||
http://snomed.info/sct | 771148008 | X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome | ||||
http://snomed.info/sct | 771149000 | Hepatic fibrosis, renal cyst, intellectual disability syndrome | ||||
http://snomed.info/sct | 771179007 | Char Douglas Dungan syndrome | ||||
http://snomed.info/sct | 771262009 | Patterson syndrome | ||||
http://snomed.info/sct | 771336003 | Polymicrogyria with optic nerve hypoplasia | ||||
http://snomed.info/sct | 771417007 | POCD - postoperative cognitive dysfunction | ||||
http://snomed.info/sct | 771448004 | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | ||||
http://snomed.info/sct | 771470001 | Jawad syndrome | ||||
http://snomed.info/sct | 771472009 | Developmental and speech delay due to SRY-box 5 deficiency | ||||
http://snomed.info/sct | 771476007 | Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome | ||||
http://snomed.info/sct | 771477003 | 15q overgrowth syndrome | ||||
http://snomed.info/sct | 771512003 | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency | ||||
http://snomed.info/sct | 772127009 | White Sutton syndrome | ||||
http://snomed.info/sct | 772224009 | Warburg micro syndrome | ||||
http://snomed.info/sct | 772225005 | RAB18, member RAS oncogene family deficiency | ||||
http://snomed.info/sct | 773230003 | CDKL5 deficiency disorder | ||||
http://snomed.info/sct | 773274001 | X-linked intellectual disability, craniofacioskeletal syndrome | ||||
http://snomed.info/sct | 773303005 | Spondyloepimetaphyseal dysplasia Geneviève type | ||||
http://snomed.info/sct | 773307006 | Zechi Ceide syndrome | ||||
http://snomed.info/sct | 773329005 | CK syndrome | ||||
http://snomed.info/sct | 773400009 | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | ||||
http://snomed.info/sct | 773404000 | Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome | ||||
http://snomed.info/sct | 773405004 | Intellectual disability with strabismus syndrome | ||||
http://snomed.info/sct | 773416006 | Intellectual disability, facial dysmorphism, hand anomalies syndrome | ||||
http://snomed.info/sct | 773418007 | Xylosyltransferase 1 congenital disorder of glycosylation | ||||
http://snomed.info/sct | 773419004 | Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 773493002 | 9q31.1q31.3 microdeletion syndrome | ||||
http://snomed.info/sct | 773494008 | 14q24.1q24.3 microdeletion syndrome | ||||
http://snomed.info/sct | 773498006 | Spinocerebellar ataxia autosomal recessive type 23 | ||||
http://snomed.info/sct | 773547003 | 13q12.3 microdeletion syndrome | ||||
http://snomed.info/sct | 773548008 | Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 773551001 | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome | ||||
http://snomed.info/sct | 773552008 | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | ||||
http://snomed.info/sct | 773553003 | Shaheen syndrome | ||||
http://snomed.info/sct | 773554009 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 773556006 | Short ulna, dysmorphism, hypotonia, intellectual disability syndrome | ||||
http://snomed.info/sct | 773581009 | Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome | ||||
http://snomed.info/sct | 773583007 | Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome | ||||
http://snomed.info/sct | 773587008 | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | ||||
http://snomed.info/sct | 773621003 | Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome | ||||
http://snomed.info/sct | 773692000 | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome | ||||
http://snomed.info/sct | 773735007 | Deafness with onychodystrophy syndrome | ||||
http://snomed.info/sct | 773769008 | Ataxia, photosensitivity, short stature syndrome | ||||
http://snomed.info/sct | 773772001 | Rare non-syndromic intellectual disability | ||||
http://snomed.info/sct | 773984007 | Piebald trait with neurologic defects syndrome | ||||
http://snomed.info/sct | 774068004 | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | ||||
http://snomed.info/sct | 774069007 | Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments | ||||
http://snomed.info/sct | 774070008 | FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | ||||
http://snomed.info/sct | 774102003 | Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | ||||
http://snomed.info/sct | 774149004 | IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability | ||||
http://snomed.info/sct | 774203000 | Intellectual disability, severe speech delay, mild dysmorphism syndrome | ||||
http://snomed.info/sct | 776204008 | Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome | ||||
http://snomed.info/sct | 777998000 | Temtamy preaxial brachydactyly syndrome | ||||
http://snomed.info/sct | 778007004 | 12p12.1 microdeletion syndrome | ||||
http://snomed.info/sct | 778009001 | Blepharophimosis, intellectual disability syndrome, Verloes type | ||||
http://snomed.info/sct | 778011005 | Severe intellectual disability and progressive spastic paraplegia | ||||
http://snomed.info/sct | 778025006 | Atypical hypotonia cystinuria syndrome | ||||
http://snomed.info/sct | 782723007 | Severe intellectual disability, progressive spastic diplegia syndrome | ||||
http://snomed.info/sct | 782736007 | Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency | ||||
http://snomed.info/sct | 782753000 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | ||||
http://snomed.info/sct | 782755007 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome | ||||
http://snomed.info/sct | 782757004 | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | ||||
http://snomed.info/sct | 782772000 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | ||||
http://snomed.info/sct | 782886007 | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome | ||||
http://snomed.info/sct | 782911008 | Hereditary cryohydrocytosis with reduced stomatin | ||||
http://snomed.info/sct | 782941005 | Richieri Costa-da Silva syndrome | ||||
http://snomed.info/sct | 782945001 | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome | ||||
http://snomed.info/sct | 783005002 | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome | ||||
http://snomed.info/sct | 783061008 | Monosomy 10p11.21p12.31 | ||||
http://snomed.info/sct | 783089006 | Macrocephaly, intellectual disability, autism syndrome | ||||
http://snomed.info/sct | 783161005 | Familial dementia British type | ||||
http://snomed.info/sct | 783174004 | Congenital muscular dystrophy with intellectual disability | ||||
http://snomed.info/sct | 783258000 | Familial dementia Danish type | ||||
http://snomed.info/sct | 783619003 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | ||||
http://snomed.info/sct | 783702009 | X-linked intellectual disability due to GRIA3 mutations | ||||
http://snomed.info/sct | 783703004 | Curatolo Cilio Pessagno syndrome | ||||
http://snomed.info/sct | 785298001 | Muscle eye brain disease with bilateral multicystic leucodystrophy | ||||
http://snomed.info/sct | 785726009 | Hyperekplexia epilepsy syndrome | ||||
http://snomed.info/sct | 787093004 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | ||||
http://snomed.info/sct | 787171006 | 21q22.11q22.12 microdeletion syndrome | ||||
http://snomed.info/sct | 787174003 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome | ||||
http://snomed.info/sct | 787175002 | ANK3-related intellectual disability, sleep disturbance syndrome | ||||
http://snomed.info/sct | 788417006 | Moynahan syndrome | ||||
http://snomed.info/sct | 788584007 | Blepharophimosis, intellectual disability syndrome | ||||
http://snomed.info/sct | 788898005 | Dementia caused by volatile inhalant | ||||
http://snomed.info/sct | 788899002 | Dementia due to pellagra | ||||
http://snomed.info/sct | 789170003 | Disinhibited behaviour due to dementia | ||||
http://snomed.info/sct | 816067005 | Diabetes, hypogonadism, deafness, intellectual disability syndrome | ||||
http://snomed.info/sct | 833326008 | Cortical vascular dementia | ||||
http://snomed.info/sct | 836301008 | Amnestic mild cognitive disorder | ||||
http://snomed.info/sct | 838276009 | Amyotrophic lateral sclerosis, parkinsonism, dementia of Guam syndrome | ||||
http://snomed.info/sct | 838441009 | MASA syndrome | ||||
http://snomed.info/sct | 840464007 | Dementia due to carbon monoxide poisoning | ||||
http://snomed.info/sct | 840465008 | Dementia due to iron deficiency | ||||
http://snomed.info/sct | 870262000 | Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills | ||||
http://snomed.info/sct | 870264004 | Autism spectrum disorder with disorder of intellectual development and absence of functional language without loss of previously acquired skills | ||||
http://snomed.info/sct | 870265003 | Autism spectrum disorder with disorder of intellectual development and with mild or no impairment of functional language with loss of previously acquired skills | ||||
http://snomed.info/sct | 870266002 | Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills | ||||
http://snomed.info/sct | 870267006 | Autism spectrum disorder with disorder of intellectual development and impaired functional language without loss of previously acquired skills | ||||
http://snomed.info/sct | 870268001 | Autism spectrum disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills | ||||
http://snomed.info/sct | 870269009 | Autism spectrum disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills | ||||
http://snomed.info/sct | 870270005 | Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language with loss of previously acquired skills | ||||
http://snomed.info/sct | 870305003 | Autism spectrum disorder with disorder of intellectual development and impaired functional language | ||||
http://snomed.info/sct | 870308001 | Autism spectrum disorder with disorder of intellectual development and complete impairment of functional language | ||||
http://snomed.info/sct | 890118006 | Hirschsprung disease and intellectual disability due to del(2)(q22) | ||||
http://snomed.info/sct | 1010630006 | X-linked complicated corpus callosum dysgenesis | ||||
http://snomed.info/sct | 1144748009 | Impaired concentration | ||||
http://snomed.info/sct | 1148924004 | Dementia due to deficiency of folic acid | ||||
http://snomed.info/sct | 1156584007 | X-linked intellectual disability hypotonic face syndrome | ||||
http://snomed.info/sct | 1156789004 | Autosomal dominant Alzheimer disease with mutation of amyloid precursor protein | ||||
http://snomed.info/sct | 1156798001 | Autosomal dominant Alzheimer disease with mutation of presenilin 2 | ||||
http://snomed.info/sct | 1156800008 | Autosomal dominant Alzheimer disease with mutation of presenilin 1 | ||||
http://snomed.info/sct | 1162462009 | Angelman syndrome due to maternal monosomy 15q11q13 | ||||
http://snomed.info/sct | 1167371007 | PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome | ||||
http://snomed.info/sct | 1167375003 | Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome | ||||
http://snomed.info/sct | 1169355000 | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | ||||
http://snomed.info/sct | 1169359006 | Tall stature, intellectual disability, renal anomalies syndrome | ||||
http://snomed.info/sct | 1172594000 | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1172624000 | Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome | ||||
http://snomed.info/sct | 1172626003 | TELO2-related intellectual disability, neurodevelopmental disorder | ||||
http://snomed.info/sct | 1172627007 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome | ||||
http://snomed.info/sct | 1172629005 | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | ||||
http://snomed.info/sct | 1172630000 | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | ||||
http://snomed.info/sct | 1172685001 | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | ||||
http://snomed.info/sct | 1172691004 | Raynaud Claes syndrome | ||||
http://snomed.info/sct | 1172697000 | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability | ||||
http://snomed.info/sct | 1172698005 | Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome | ||||
http://snomed.info/sct | 1172889005 | Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome | ||||
http://snomed.info/sct | 1172899000 | PMP22-RAI1 contiguous gene duplication syndrome | ||||
http://snomed.info/sct | 1173036000 | Combined oxidative phosphorylation defect type 23 | ||||
http://snomed.info/sct | 1173998003 | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | ||||
http://snomed.info/sct | 1177167002 | Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1177169004 | Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation | ||||
http://snomed.info/sct | 1177175008 | EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome | ||||
http://snomed.info/sct | 1179282009 | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | ||||
http://snomed.info/sct | 1179283004 | Metopic ridging, ptosis, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1179301003 | DYRK1A-related intellectual disability syndrome | ||||
http://snomed.info/sct | 1179408008 | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1186711002 | GNB5-related intellectual disability, cardiac arrhythmia syndrome | ||||
http://snomed.info/sct | 1186713004 | Growth delay, intellectual disability, hepatopathy syndrome | ||||
http://snomed.info/sct | 1186721005 | Infantile inflammatory bowel disease with neurological involvement | ||||
http://snomed.info/sct | 1186724002 | HTRA1-related autosomal dominant cerebral small vessel disease | ||||
http://snomed.info/sct | 1186729007 | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome | ||||
http://snomed.info/sct | 1186730002 | YY1 haploinsufficiency syndrome | ||||
http://snomed.info/sct | 1186734006 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | ||||
http://snomed.info/sct | 1186839009 | Cognitive impairment due to lead toxicity | ||||
http://snomed.info/sct | 1186877003 | Dementia due to vitamin E deficiency | ||||
http://snomed.info/sct | 1186879000 | Dementia due to thiamine deficiency | ||||
http://snomed.info/sct | 1186880002 | Dementia due to vitamin B12 deficiency | ||||
http://snomed.info/sct | 1186881003 | Dementia due to niacin deficiency | ||||
http://snomed.info/sct | 1186883000 | Dementia due to nutritional deficiency | ||||
http://snomed.info/sct | 1186887004 | Manganese induced dementia | ||||
http://snomed.info/sct | 1187004001 | CTE - chronic traumatic encephalopathy | ||||
http://snomed.info/sct | 1187038009 | Complex neurodevelopmental disorder | ||||
http://snomed.info/sct | 1187041000 | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | ||||
http://snomed.info/sct | 1187042007 | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome | ||||
http://snomed.info/sct | 1187114007 | Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | ||||
http://snomed.info/sct | 1187122000 | WITKOS - Witteveen Kolk syndrome | ||||
http://snomed.info/sct | 1187126002 | ITM2B-related cerebral amyloid angiopathy | ||||
http://snomed.info/sct | 1187195007 | Microcephalic cortical malformations, short stature due to rotatin deficiency | ||||
http://snomed.info/sct | 1187210007 | Intellectual disability, epilepsy, extrapyramidal syndrome | ||||
http://snomed.info/sct | 1187247007 | WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome | ||||
http://snomed.info/sct | 1187249005 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | ||||
http://snomed.info/sct | 1187250005 | SSM (seizures, scoliosis, macrocephaly) syndrome | ||||
http://snomed.info/sct | 1187277001 | Short stature, brachydactyly, obesity, global developmental delay syndrome | ||||
http://snomed.info/sct | 1187278006 | SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome | ||||
http://snomed.info/sct | 1187303004 | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | ||||
http://snomed.info/sct | 1187304005 | MINDS syndrome | ||||
http://snomed.info/sct | 1187642008 | Macrocephaly, intellectual disability, left ventricular non compaction syndrome | ||||
http://snomed.info/sct | 1187644009 | Basel Vanagaite Smirin Yosef syndrome | ||||
http://snomed.info/sct | 1197148005 | Richardson Kirk syndrome | ||||
http://snomed.info/sct | 1197588008 | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome | ||||
http://snomed.info/sct | 1197591008 | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome | ||||
http://snomed.info/sct | 1197593006 | Intellectual disability, loss of expressive language, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1208341008 | Hunter Jurenka Thompson syndrome | ||||
http://snomed.info/sct | 1208344000 | Fryns Smeets Thiry syndrome | ||||
http://snomed.info/sct | 1208481000 | Progressive cerebello-cerebral atrophy | ||||
http://snomed.info/sct | 1208488006 | SATB2-associated syndrome | ||||
http://snomed.info/sct | 1208614008 | Autosomal dominant deafness with onychodystrophy syndrome | ||||
http://snomed.info/sct | 1208720000 | 7q36.3 microduplication syndrome | ||||
http://snomed.info/sct | 1208727002 | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome | ||||
http://snomed.info/sct | 1208746001 | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1208936008 | ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis | ||||
http://snomed.info/sct | 1208987006 | PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | ||||
http://snomed.info/sct | 1217228004 | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | ||||
http://snomed.info/sct | 1217229007 | Developmental delay, short stature, dysmorphic features, sparse hair syndrome | ||||
http://snomed.info/sct | 1217371005 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | ||||
http://snomed.info/sct | 1217379007 | NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy | ||||
http://snomed.info/sct | 1217381009 | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | ||||
http://snomed.info/sct | 1217382002 | Pilarowski Bjornsson syndrome | ||||
http://snomed.info/sct | 1220568003 | QRICH1-related intellectual disability, chondrodysplasia syndrome | ||||
http://snomed.info/sct | 1220589007 | Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome | ||||
http://snomed.info/sct | 1220594007 | Plantar lipomatosis, facial dysmorphism, developmental delay syndrome | ||||
http://snomed.info/sct | 1220597000 | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome | ||||
http://snomed.info/sct | 1220600004 | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy | ||||
http://snomed.info/sct | 1222656005 | SYNGAP1-related developmental and epileptic encephalopathy | ||||
http://snomed.info/sct | 1222657001 | PRUNE1-related neurological syndrome | ||||
http://snomed.info/sct | 1222658006 | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome | ||||
http://snomed.info/sct | 1222672002 | 3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome | ||||
http://snomed.info/sct | 1222706005 | MRAMS (mental retardation, anterior maxillary protrusion, strabismus) syndrome | ||||
http://snomed.info/sct | 1222710008 | Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome | ||||
http://snomed.info/sct | 1228886008 | 9q33.3q34.11 microdeletion syndrome | ||||
http://snomed.info/sct | 1228890005 | 16p13.2 microdeletion syndrome | ||||
http://snomed.info/sct | 1229872004 | Xq25 microduplication syndrome | ||||
http://snomed.info/sct | 1229873009 | 17q24.2 microdeletion syndrome | ||||
http://snomed.info/sct | 1229875002 | 9q21.13 microdeletion syndrome | ||||
http://snomed.info/sct | 1229882003 | 11q22.2q22.3 microdeletion syndrome | ||||
http://snomed.info/sct | 1229883008 | 19p13.3 microduplication syndrome | ||||
http://snomed.info/sct | 1229891004 | 20q11.2 microdeletion syndrome | ||||
http://snomed.info/sct | 1229895008 | Verheij syndrome | ||||
http://snomed.info/sct | 1230273004 | Congenital muscular dystrophy with mitochondrial structural abnormalities | ||||
http://snomed.info/sct | 1230376005 | Contactin associated protein 2-related developmental and epileptic encephalopathy | ||||
http://snomed.info/sct | 1234774002 | Cognitive impairment caused by alcohol | ||||
http://snomed.info/sct | 1236807002 | Encephalopathy due to mitochondrial and peroxisomal fission defect | ||||
http://snomed.info/sct | 1236843008 | PDE4D haploinsufficiency syndrome | ||||
http://snomed.info/sct | 1237179007 | FG syndrome type 1 | ||||
http://snomed.info/sct | 1237418002 | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome | ||||
http://snomed.info/sct | 1237420004 | X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome | ||||
http://snomed.info/sct | 1237421000 | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy | ||||
http://snomed.info/sct | 1237462006 | NDE1-related microhydranencephaly | ||||
http://snomed.info/sct | 1237512003 | Short stature, developmental delay, congenital heart defect syndrome | ||||
http://snomed.info/sct | 1237619001 | FAR1 deficiency | ||||
http://snomed.info/sct | 1237623009 | Congenital analgesia with severe intellectual disability | ||||
http://snomed.info/sct | 1237625002 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | ||||
http://snomed.info/sct | 1251452003 | Proximal monosomy 4q25 | ||||
http://snomed.info/sct | 1251453008 | SOX5 haploinsufficiency syndrome | ||||
http://snomed.info/sct | 1254650002 | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1254651003 | Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome | ||||
http://snomed.info/sct | 1254652005 | Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome | ||||
http://snomed.info/sct | 1254654006 | X-linked intellectual disability, hypotonia, movement disorder syndrome | ||||
http://snomed.info/sct | 1255319004 | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | ||||
http://snomed.info/sct | 1255322002 | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | ||||
http://snomed.info/sct | 1255335006 | X-linked intellectual disability, short stature, overweight syndrome | ||||
http://snomed.info/sct | 1258972007 | Baraitser Winter cerebrofrontofacial syndrome | ||||
http://snomed.info/sct | 1259121008 | Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea | ||||
http://snomed.info/sct | 1259123006 | Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula | ||||
http://snomed.info/sct | 1259124000 | Amyotrophic lateral sclerosis with frontotemporal dementia | ||||
http://snomed.info/sct | 1259128002 | Alzheimer disease with psychosis | ||||
http://snomed.info/sct | 1259465009 | Dementia due to hepatic failure | ||||
http://snomed.info/sct | 1259467001 | Dementia due to hypercalcaemia | ||||
http://snomed.info/sct | 1259469003 | Dementia due to Gerstmann Straussler Scheinker syndrome | ||||
http://snomed.info/sct | 1259471003 | Dementia due to steroid-responsive encephalopathy associated with autoimmune thyroiditis | ||||
http://snomed.info/sct | 1259473000 | Dementia due to fragile X syndrome | ||||
http://snomed.info/sct | 1259476008 | Dementia due to genetic disease | ||||
http://snomed.info/sct | 1259478009 | Dementia due to familial Creutzfeldt-Jakob disease | ||||
http://snomed.info/sct | 1259480003 | Dementia due to fatal familial insomnia | ||||
http://snomed.info/sct | 1259485008 | Dementia due to cerebral vasculitis | ||||
http://snomed.info/sct | 1259488005 | Dementia due to cerebral amyloid angiopathy | ||||
http://snomed.info/sct | 1259492003 | Dementia due to metastatic brain neoplasm | ||||
http://snomed.info/sct | 1259494002 | Dementia due to leukodystrophy | ||||
http://snomed.info/sct | 1259496000 | Dementia due to Lyme disease | ||||
http://snomed.info/sct | 1259499007 | Dementia due to intracerebral hypertensive hemorrhage | ||||
http://snomed.info/sct | 1259501004 | Dementia due to kuru | ||||
http://snomed.info/sct | 1259503001 | Dementia due to iatrogenic Creutzfeldt-Jakob disease | ||||
http://snomed.info/sct | 1259511006 | Dementia due to Wilson disease | ||||
http://snomed.info/sct | 1259513009 | Dementia due to Whipple disease | ||||
http://snomed.info/sct | 1259517005 | Dementia due to systemic lupus erythematosus | ||||
http://snomed.info/sct | 1259519008 | Dementia due to subacute sclerosing panencephalitis | ||||
http://snomed.info/sct | 1259522005 | Dementia due to variant Creutzfeldt-Jakob disease | ||||
http://snomed.info/sct | 1259524006 | Dementia due to trypanosomiasis | ||||
http://snomed.info/sct | 1259529001 | Dementia due to sporadic Creutzfeldt-Jakob disease | ||||
http://snomed.info/sct | 1259531005 | Dementia due to hypertensive encephalopathy | ||||
http://snomed.info/sct | 1259562009 | Late-delayed irradiation-induced cognitive impairment | ||||
http://snomed.info/sct | 1259579003 | Dementia due to Behcet disease | ||||
http://snomed.info/sct | 1259581001 | Dementia due to celiac sprue | ||||
http://snomed.info/sct | 1259584009 | Dementia due to and following dialysis | ||||
http://snomed.info/sct | 1259586006 | Dementia due to autoimmune encephalitis | ||||
http://snomed.info/sct | 1259591007 | Dementia due to acquired hypothyroidism | ||||
http://snomed.info/sct | 1259656006 | Dementia due to renal failure | ||||
http://snomed.info/sct | 1259661008 | Dementia due to rheumatological disease | ||||
http://snomed.info/sct | 1259663006 | Dementia due to polyarteritis nodosa | ||||
http://snomed.info/sct | 1259665004 | Dementia due to progressive subcortical gliosis | ||||
http://snomed.info/sct | 1259667007 | Dementia due to paraneoplastic encephalitis | ||||
http://snomed.info/sct | 1259673008 | Dementia due to neurofilament inclusion body disease | ||||
http://snomed.info/sct | 1259675001 | Dementia due to obstructive hydrocephalus | ||||
http://snomed.info/sct | 1259677009 | Dementia due to multiple system atrophy | ||||
http://snomed.info/sct | 1259679007 | Dementia due to neurodegeneration with brain iron accumulation type 1 | ||||
http://snomed.info/sct | 1259990004 | Dementia due to classical pantothenate kinase associated neurodegeneration | ||||
http://snomed.info/sct | 1260095004 | Menke Hennekam syndrome | ||||
http://snomed.info/sct | 1260097007 | PADDAS syndrome | ||||
http://snomed.info/sct | 1260128008 | WARS2-related combined oxidative phosphorylation defect | ||||
http://snomed.info/sct | 1260129000 | ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome | ||||
http://snomed.info/sct | 1260130005 | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome | ||||
http://snomed.info/sct | 1260134001 | Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | ||||
http://snomed.info/sct | 1260143005 | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome | ||||
http://snomed.info/sct | 1260195002 | GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder | ||||
http://snomed.info/sct | 1260328002 | Familial multiple system tauopathy | ||||
http://snomed.info/sct | 1260352009 | Frontotemporal dementia due to TARDBP mutation | ||||
http://snomed.info/sct | 1260353004 | Frontotemporal dementia due to valosin containing protein mutation | ||||
http://snomed.info/sct | 1260354005 | Frontotemporal dementia due to chromosome 9 open reading frame 72 mutation | ||||
http://snomed.info/sct | 1260355006 | Frontotemporal dementia due to FUS mutation | ||||
http://snomed.info/sct | 1260450002 | IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease | ||||
http://snomed.info/sct | 1263555006 | Logopenic non-amnestic Alzheimer disease | ||||
http://snomed.info/sct | 1263585001 | Frontal variant non-amnestic Alzheimer disease | ||||
http://snomed.info/sct | 1269224009 | Craniosynostosis, microretrognathia, severe intellectual disability syndrome | ||||
http://snomed.info/sct | 1269226006 | Spondylometaphyseal dysplasia, corneal dystrophy syndrome | ||||
http://snomed.info/sct | 1269233006 | Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome | ||||
http://snomed.info/sct | 1269236003 | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome | ||||
http://snomed.info/sct | 1279845005 | Combined oxidative phosphorylation defect type 39 | ||||
http://snomed.info/sct | 1284851009 | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome | ||||
http://snomed.info/sct | 1295485009 | Neurocutaneous syndrome Bicknell type | ||||
http://snomed.info/sct | 1295488006 | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome | ||||
http://snomed.info/sct | 1299154002 | CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1300119004 | SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome | ||||
http://snomed.info/sct | 1300131002 | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | ||||
http://snomed.info/sct | 1300132009 | Clark Baraitser syndrome | ||||
http://snomed.info/sct | 1300188000 | Pontocerebellar hypoplasia due to TBC1D23 mutation | ||||
http://snomed.info/sct | 1300192007 | Congenital pontocerebellar hypoplasia type 14 | ||||
http://snomed.info/sct | 1300198006 | SMARCA2-related blepharophimosis, intellectual disability syndrome | ||||
http://snomed.info/sct | 1303576005 | Forgets to take medication | ||||
http://snomed.info/sct | 1303585005 | HPDL-related Leigh-like encephalopathy | ||||
http://snomed.info/sct | 1303586006 | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | ||||
http://snomed.info/sct | 1303866001 | MYT1L-related Prader-Willi-like syndrome | ||||
http://snomed.info/sct | 1304113005 | Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome | ||||
http://snomed.info/sct | 1304277005 | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation | ||||
http://snomed.info/sct | 1332384001 | Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome | ||||
http://snomed.info/sct | 1332385000 | Aplastic anemia, intellectual disability, dwarfism syndrome | ||||
http://snomed.info/sct | 1332508004 | CIMDAG syndrome | ||||
http://snomed.info/sct | 1332510002 | Sifrim Hitz Weiss syndrome | ||||
http://snomed.info/sct | 1335869007 | Cleft palate, congenital heart defect, intellectual disability syndrome | ||||
http://snomed.info/sct | 1339031006 | Dementia caused by ionizing radiation | ||||
http://snomed.info/sct | 1340175001 | Blakemore Durmaz Vasileiou syndrome | ||||
http://snomed.info/sct | 1351837003 | Intellectual disability, cupped ears syndrome | ||||
http://snomed.info/sct | 1351838008 | Intellectual disability, early-onset cataract, microcephaly syndrome | ||||
http://snomed.info/sct | 1351843001 | Diets Jongmans syndrome | ||||
http://snomed.info/sct | 1351854006 | Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome | ||||
http://snomed.info/sct | 1351962002 | Epidermal growth factor-related primary hypomagnesaemia with intellectual disability | ||||
http://snomed.info/sct | 1356736002 | SHILCA syndrome | ||||
http://snomed.info/sct | 1360075006 | Hao Fountain syndrome | ||||
http://snomed.info/sct | 1360079000 | Hereditary persistence of fetal hemoglobin, intellectual disability syndrome | ||||
http://snomed.info/sct | 1362108000 | Genetic intellectual disability | ||||
http://snomed.info/sct | 1363184005 | Early onset dementia due to Lewy body disease | ||||
http://snomed.info/sct | 1363185006 | Dementia due to Lewy body disease | ||||
http://snomed.info/sct | 1363286000 | Mesomelic dysplasia, digital anomalies, intellectual disability syndrome | ||||
http://snomed.info/sct | 1363573005 | DHX30-related neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome | ||||
http://snomed.info/sct | 1367656002 | SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome | ||||
http://snomed.info/sct | 1373748007 | BCL11B-related neurodevelopmental disorder | ||||
http://snomed.info/sct | 1373770005 | Neuronal ceroid lipofuscinosis type 8 | ||||
http://snomed.info/sct | 1380254000 | Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome | ||||
http://snomed.info/sct | 1386319000 | Digit span forwards performance impaired | ||||
http://snomed.info/sct | 1386320006 | Digit span reverse performance impaired | ||||
http://snomed.info/sct | 1388545003 | MADD-related developmental delay, endocrine dysfunction, hypohemoglobinemia syndrome | ||||
http://snomed.info/sct | 1388880007 | Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome | ||||
http://snomed.info/sct | 1388885002 | Cohen Gibson syndrome | ||||
http://snomed.info/sct | 1581000119101 | Dementia of the Alzheimer type with behavioural disturbance | ||||
http://snomed.info/sct | 1591000119103 | Dementia with behavioral disturbance | ||||
http://snomed.info/sct | 2421000119107 | Hallucinations co-occurrent and due to late onset dementia | ||||
http://snomed.info/sct | 18541000119100 | Borderline cognitive developmental delay | ||||
http://snomed.info/sct | 21921000119103 | Dementia due to Pick's disease | ||||
http://snomed.info/sct | 22381000119105 | Primary degenerative dementia | ||||
http://snomed.info/sct | 31081000119101 | Presenile dementia with delusions | ||||
http://snomed.info/sct | 79341000119107 | Mixed dementia | ||||
http://snomed.info/sct | 82351000119105 | Altered behavior due to Pick's disease | ||||
http://snomed.info/sct | 82361000119107 | Altered behavior in Huntington's dementia | ||||
http://snomed.info/sct | 82371000119101 | Dementia due to multiple sclerosis with altered behaviour | ||||
http://snomed.info/sct | 82381000119103 | Epileptic dementia with behavioral disturbance | ||||
http://snomed.info/sct | 97751000119108 | Altered behaviour in Alzheimer's disease | ||||
http://snomed.info/sct | 101421000119107 | Dementia due to Parkinson's disease | ||||
http://snomed.info/sct | 105421000119105 | Early onset Alzheimer's disease with behavioral disturbance | ||||
http://snomed.info/sct | 106021000119105 | Multi-infarct dementia due to atherosclerosis | ||||
http://snomed.info/sct | 130121000119104 | Dementia due to Rett's syndrome | ||||
http://snomed.info/sct | 135811000119107 | Lewy body dementia with behavioral disturbance | ||||
http://snomed.info/sct | 141601000119107 | Cognitive changes due to organic disorder | ||||
http://snomed.info/sct | 141991000119109 | Delusions in Alzheimer's disease | ||||
http://snomed.info/sct | 142001000119106 | Depressed mood in Alzheimer's disease | ||||
http://snomed.info/sct | 142011000119109 | Alzheimer's disease with delirium | ||||
http://snomed.info/sct | 142261000119100 | Cognitive deficit in attention | ||||
http://snomed.info/sct | 142281000119109 | Cognitive deficit in visuospatial function | ||||
http://snomed.info/sct | 142291000119107 | Cognitive deficit in psychomotor function | ||||
http://snomed.info/sct | 288631000119104 | Vascular dementia with behavioural disturbance | ||||
http://snomed.info/sct | 290621000119101 | Cognitive deficit due to and following cerebrovascular disease | ||||
http://snomed.info/sct | 291621000119109 | Cognitive deficit due to and following nontraumatic subarachnoid hemorrhage | ||||
http://snomed.info/sct | 291711000119109 | Cognitive deficit due to and following nontraumatic intracerebral hemorrhage | ||||
http://snomed.info/sct | 293671000119109 | Behavioral disturbance due to multi-infarct dementia | ||||
http://snomed.info/sct | 672561000119103 | Cognitive deficit due to and following ischemic cerebrovascular accident | ||||
http://snomed.info/sct | 672571000119109 | Cognitive deficit due to and following hemorrhagic cerebrovascular accident | ||||
http://snomed.info/sct | 690341000119100 | Cognitive deficit due to and following embolic cerebrovascular accident | ||||
http://snomed.info/sct | 690641000220109 | Immediate memory function impaired | ||||
http://snomed.info/sct | 15928141000119107 | Cognitive impairment co-occurrent and due to human immunodeficiency virus infection | ||||
http://snomed.info/sct | 16219201000119101 | Behavioral disturbance co-occurrent and due to late onset Alzheimer dementia | ||||
http://snomed.info/sct | 16276361000119109 | Vascular dementia without behavioral disturbance | ||||
http://snomed.info/sct | 16703491000119101 | Memory deficit due to and following spontaneous intracerebral hemorrhage | ||||
http://snomed.info/sct | 16703551000119107 | Memory deficit as a sequela of cerebrovascular disease | ||||
http://snomed.info/sct | 16703601000119109 | Memory deficit due to and following spontaneous subarachnoid haemorrhage | ||||
http://snomed.info/sct | 16703661000119105 | Memory deficit as a late effect of cerebrovascular accident | ||||
http://snomed.info/sct | 16703711000119100 | Memory deficit as late effect of embolic stroke | ||||
http://snomed.info/sct | 16703761000119102 | Memory deficit as a late effect of ischemic cerebrovascular accident | ||||
http://snomed.info/sct | 16703821000119101 | Memory deficit due to and following haemorrhagic cerebrovascular accident | ||||
http://snomed.info/sct | 228156007 | Intellectual functioning disability | ||||
http://snomed.info/sct | 110351007 | Psychiatric behavioral disability | ||||
http://snomed.info/sct | 280965007 | Behavioral disability | ||||
http://snomed.info/sct | 47437004 | Mental handicap | inactive | inactive | ||
http://snomed.info/sct | 443656000 | Developmentally disabled |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |