Spinocerebellar ataxia type 14

Preferred Label : Spinocerebellar ataxia type 14;

ICD-11 definition : Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.;

Details

Origin ID

736357100;

UMLS CUI

C1854369;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 14 [OMIM Phenotype]
- Spinocerebellar ataxia 14 [MeSH concept]
- Spinocerebellar ataxia type 14 [ORDO Disease]
- Spinocerebellar ataxia type 14 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 14 [MeSH Supplementary Concept]
- spinocerebellar ataxia 14 [Disease (Nov.)]
- spinocerebellar ataxia type 14 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 14 [OMIM Phenotype]
- Spinocerebellar ataxia 14 [MeSH concept]
- Spinocerebellar ataxia type 14 [ORDO Disease]
- Spinocerebellar ataxia type 14 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 14 [MeSH Supplementary Concept]
- spinocerebellar ataxia 14 [Disease (Nov.)]
- spinocerebellar ataxia type 14 [DO Concept]

Keyword's position in hierarchy(ies) :

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