Spinocerebellar ataxia type 13

Preferred Label : Spinocerebellar ataxia type 13;

ICD-11 definition : Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.;

Details

Origin ID

1191033828;

UMLS CUI

C1854488;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 13 [OMIM Phenotype]
- Spinocerebellar ataxia 13 [MeSH concept]
- Spinocerebellar ataxia type 13 [ORDO Disease]
- Spinocerebellar ataxia type 13 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 13 [MeSH Supplementary Concept]
- spinocerebellar ataxia 13 [Disease (Nov.)]
- spinocerebellar ataxia type 13 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 13 [OMIM Phenotype]
- Spinocerebellar ataxia 13 [MeSH concept]
- Spinocerebellar ataxia type 13 [ORDO Disease]
- Spinocerebellar ataxia type 13 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 13 [MeSH Supplementary Concept]
- spinocerebellar ataxia 13 [Disease (Nov.)]
- spinocerebellar ataxia type 13 [DO Concept]

Keyword's position in hierarchy(ies) :

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