mental retardation, X-Linked, syndromic, christianson type

Preferred Label : mental retardation, X-Linked, syndromic, christianson type;

MeSH note : mutation in SLC9A6;

MeSH synonym : Angelman-Like syndrome, X-Linked; mental retardation, microcephaly, epilepsy, and ataxia syndrome; intellectual deficit, X-Linked, south african type; christianson syndrome;

Details

Origin ID

C567484;

UMLS CUI

C2678194;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual deficit, South African type [ICD-11 More detail]
Currated CISMeF NLP mapping
- Christianson syndrome [DO Concept]
- Christianson syndrome [ORDO Disease]
- Intellectual developmental disorder, X-linked, syndromic, christianson type [OMIM Phenotype]
- Mental Retardation, X-Linked Syndromic, Christianson Type [NCIt concept]
- X-linked intellectual developmental disorder Christianson type (disorder) [SNOMED CT concept]
DO Cross reference
- Christianson syndrome [DO Concept]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- epilepsy [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- ocular motility disorders [MeSH Descriptor]
Record concept(s)
- mental retardation, X-Linked, syndromic, christianson type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, christianson type [OMIM Phenotype]
- Mental Retardation, X-Linked Syndromic, Christianson Type [NCIt concept]
- X-linked intellectual developmental disorder Christianson type (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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