Spinocerebellar ataxia type 27

Preferred Label : Spinocerebellar ataxia type 27;

ICD-11 definition : Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.;

Details

Origin ID

1408059647;

UMLS CUI

C1836383;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 27 [OMIM Phenotype]
- Spinocerebellar ataxia 27 [MeSH concept]
- Spinocerebellar ataxia type 27 [ORDO Disease]
- Spinocerebellar ataxia type 27 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 27 [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [Disease (Nov.)]
- spinocerebellar ataxia type 27 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 27 [OMIM Phenotype]
- Spinocerebellar ataxia 27 [MeSH concept]
- Spinocerebellar ataxia 27a [OMIM Phenotype]
- Spinocerebellar ataxia type 27 [ORDO Disease]
- Spinocerebellar ataxia type 27 (disorder) [SNOMED CT concept]
- nystagmus 4, congenital, autosomal dominant [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [Disease (Nov.)]
- spinocerebellar ataxia type 27 [DO Concept]

Keyword's position in hierarchy(ies) :

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