spinocerebellar ataxia 27

Preferred Label : spinocerebellar ataxia 27;

CISMeF acronym : SCA27;

MeSH synonym : cerebellar ataxia, autosomal dominant, FGF14-related; SCA27 Spinocerebellar ataxia 27; Nystagmus 4, congenital, autosomal dominant; Vestibulocerebellar disorder with predominant ocular signs; SCA27A; Spinocerebellar ataxia 27A;

Détails

Origin ID

C537204;

UMLS CUI

C1836383;

Automatic exact mappings (from CISMeF team)
- FGF14 wt Allele [NCIt concept]
- fibroblast growth factor 14 [ORDO Gene]
CISMeF manual mappings
- Spinocerebellar ataxia type 27 [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 27 [OMIM Phenotype]
- Spinocerebellar ataxia type 27 [ICD-11 More detail]
- Spinocerebellar ataxia type 27 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 27 [Disease (Nov.)]
- spinocerebellar ataxia type 27 [DO Concept]
MeSH term(s) associated for indexing
- spinocerebellar degenerations [MeSH Descriptor]
ORDO relation(s)
- Spinocerebellar ataxia type 27 [ORDO Disease]
Record concept(s)
- Spinocerebellar ataxia 27 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 27 [OMIM Phenotype]
- Spinocerebellar ataxia 27a [OMIM Phenotype]
- Spinocerebellar ataxia type 27 [ORDO Disease]
- Spinocerebellar ataxia type 27 [ICD-11 More detail]
- Spinocerebellar ataxia type 27 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 27 [Disease (Nov.)]
- spinocerebellar ataxia type 27 [DO Concept]

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