Spinocerebellar Ataxia Type 7

Preferred Label : Spinocerebellar Ataxia Type 7;

NCIt definition : An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.;

Details

Origin ID

C126562;

UMLS CUI

C0752125;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 7 [OMIM Phenotype]
- Spinocerebellar ataxia type 7 [ORDO Disease]
- Spinocerebellar ataxia type 7 [ICD-11 More detail]
- Spinocerebellar ataxia type 7 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 7 [Disease (Nov.)]
- spinocerebellar ataxia type 7 [MeSH concept]
- spinocerebellar ataxia type 7 [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)
- Autosomal dominant cerebellar ataxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia 7 [OMIM Phenotype]
- Spinocerebellar ataxia type 7 [ORDO Disease]
- Spinocerebellar ataxia type 7 [ICD-11 More detail]
- Spinocerebellar ataxia type 7 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 7 [Disease (Nov.)]
- spinocerebellar ataxia type 7 [DO Concept]
- spinocerebellar ataxia type 7 [MeSH concept]
Validated automatic mappings to BTNT
- Spinocerebellar ataxia 7 [OMIM Phenotype]
Validated automatic mappings to NTBT
- spinocerebellar ataxias [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ATXN7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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