Spinocerebellar Ataxia Type 3

Preferred Label : Spinocerebellar Ataxia Type 3;

NCIt synonyms : SCA3; Machado-Joseph Disease;

NCIt definition : A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.;

Details

Origin ID

C84830;

UMLS CUI

C0024408;

Automatic exact mappings (from CISMeF team)
- spinocerebellar ataxias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Azorean disease (disorder) [SNOMED CT concept]
- Joseph disease [PASCAL descriptor]
- Machado Joseph disease [Disease (Nov.)]
- Machado-Joseph disease [DO Concept]
- Machado-Joseph disease [MeSH concept]
- Machado-Joseph disease [Radlex concept]
- Machado-Joseph disease type 1 [ORDO Disease]
- Machado-Joseph disease type 2 [ORDO Disease]
- Machado-Joseph disease type 3 [ORDO Disease]
- Machado-joseph disease [OMIM Phenotype]
- Spinocerebellar ataxia type 3 [ICD-11 More detail]
- Spinocerebellar ataxia type 3 [ORDO Disease]
- azorean disease, nos [SNOMED Notion]
- machado-joseph disease [MeSH Descriptor]
DO Cross reference
- Machado-Joseph disease [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)
- Azorean disease (disorder) [SNOMED CT concept]
- Joseph disease [PASCAL descriptor]
- Machado Joseph disease [Disease (Nov.)]
- Machado-Joseph disease [Radlex concept]
- Machado-Joseph disease [DO Concept]
- Machado-Joseph disease [MeSH concept]
- Machado-joseph disease [OMIM Phenotype]
- Spinocerebellar ataxia type 3 [ORDO Disease]
- Spinocerebellar ataxia type 3 [ICD-11 More detail]
- azorean disease, nos [SNOMED Notion]
- machado-joseph disease [MeSH Descriptor]
Validated automatic mappings to BTNT
- Machado-Joseph disease type 1 [ICD-11 More detail]
Validated automatic mappings to NTBT
- spinocerebellar ataxias [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ATXN3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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