X-linked intellectual deficit, South African type

Preferred Label : X-linked intellectual deficit, South African type;

ICD-11 definition : Intellectual deficit, X-linked, South African type is characterised by severe intellectual deficit, mutism despite apparently normal hearing, craniofacial dysmorphism (long narrow face, prognathism), grand mal epilepsy, ophthalmoplegia, and cerebellar atrophy.;

ICD-11 synonym : X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy; Christianson syndrome;

Details

Origin ID

37828597;

Automatic exact mappings (from CISMeF team)
- Christianson syndrome [DO Concept]
- Mental Retardation, X-Linked Syndromic, Christianson Type [NCIt concept]
- X-linked intellectual developmental disorder Christianson type (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- mental retardation X-linked, south african type [MeSH Supplementary Concept]

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