Spinocerebellar Ataxia Type 17

Preferred Label : Spinocerebellar Ataxia Type 17;

NCIt synonyms : SCA17;

NCIt definition : An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the TBP gene, encoding TATA-box-binding protein.;

Details

Origin ID

C179861;

UMLS CUI

C1846707;

Automatic exact mappings (from CISMeF team)
- spinocerebellar ataxias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 17 [OMIM Phenotype]
- Spinocerebellar ataxia type 17 [ICD-11 More detail]
- Spinocerebellar ataxia type 17 [ORDO Disease]
- Spinocerebellar ataxia type 17 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 17 [MeSH concept]
- spinocerebellar ataxia 17 [Disease (Nov.)]
- spinocerebellar ataxia 17 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 17 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 17 [OMIM Phenotype]
- Spinocerebellar ataxia type 17 [ICD-11 More detail]
- Spinocerebellar ataxia type 17 (disorder) [SNOMED CT concept]
- cerebelloparenchymal disorder II [MeSH Supplementary Concept]
- spinocerebellar ataxia 17 [MeSH Supplementary Concept]
- spinocerebellar ataxia 17 [MeSH concept]
- spinocerebellar ataxia 17 [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TBP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients