Spinocerebellar ataxia type 4

Preferred Label : Spinocerebellar ataxia type 4;

ICD-11 definition : Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.;

Details

Origin ID

1686006145;

UMLS CUI

C0752122;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 4 [OMIM Phenotype]
- Spinocerebellar ataxia type 4 [ORDO Disease]
- Spinocerebellar ataxia type 4 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 4 [Disease (Nov.)]
- spinocerebellar ataxia type 4 [MeSH concept]
- spinocerebellar ataxia type 4 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 4 [OMIM Phenotype]
- Spinocerebellar ataxia type 4 [ORDO Disease]
- Spinocerebellar ataxia type 4 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 4 [Disease (Nov.)]
- spinocerebellar ataxia type 4 [DO Concept]
- spinocerebellar ataxia type 4 [MeSH concept]
Validated automatic mappings to NTBT
- spinocerebellar ataxias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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