Spinocerebellar ataxia type 1

Preferred Label : Spinocerebellar ataxia type 1;

ICD-11 definition : Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.;

Details

Origin ID

2071487961;

UMLS CUI

C0752120;

Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 1 [NCIt concept]
- Spinocerebellar ataxia 1 [OMIM Phenotype]
- Spinocerebellar ataxia type 1 [ORDO Disease]
- Spinocerebellar ataxia type 1 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 1 [Disease (Nov.)]
- spinocerebellar ataxia type 1 [MeSH concept]
- spinocerebellar ataxia type 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 1 [NCIt concept]
- Spinocerebellar ataxia 1 [OMIM Phenotype]
- Spinocerebellar ataxia type 1 [ORDO Disease]
- Spinocerebellar ataxia type 1 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 1 [Disease (Nov.)]
- spinocerebellar ataxia type 1 [DO Concept]
- spinocerebellar ataxia type 1 [MeSH concept]
Validated automatic mappings to NTBT
- spinocerebellar ataxias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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