spinocerebellar ataxia 31

Preferred Label : spinocerebellar ataxia 31;

MeSH note : caused by a 2.5- to 3.8-kb insertion containing pentanucleotide repeats including (TGGAA)n within an intron of the BEAN gene on chromosome 16q21-q22.;

MeSH synonym : spinocerebellar ataxia, 16q22-Linked; SCA31 Spinocerebellar Ataxia 31;

Details

Origin ID

C566146;

UMLS CUI

C1861736;

Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 31 [NCIt concept]
- Spinocerebellar ataxia 31 [OMIM Phenotype]
- Spinocerebellar ataxia type 31 [ICD-11 More detail]
- Spinocerebellar ataxia type 31 [ORDO Disease]
- Spinocerebellar ataxia type 31 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 31 [Disease (Nov.)]
- spinocerebellar ataxia type 31 [DO Concept]
MeSH term(s) associated for indexing
- spinocerebellar ataxias [MeSH Descriptor]
Record concept(s)
- spinocerebellar ataxia 31 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 31 [NCIt concept]
- Spinocerebellar ataxia 31 [OMIM Phenotype]
- Spinocerebellar ataxia type 31 [ORDO Disease]
- Spinocerebellar ataxia type 31 [ICD-11 More detail]
- Spinocerebellar ataxia type 31 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 31 [Disease (Nov.)]
- spinocerebellar ataxia type 31 [DO Concept]

Keyword's position in hierarchy(ies) :

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