spinocerebellar ataxia, autosomal recessive 9

Preferred Label : spinocerebellar ataxia, autosomal recessive 9;

MeSH synonym : cerebellar ataxia, autosomal recessive, type 2;

Origin ID

C567436;

UMLS CUI

C2677589;

Currated CISMeF NLP mapping
- Autosomal recessive ataxia due to ubiquinone deficiency [ORDO Disease]
- Coenzyme q10 deficiency, primary, 4 [OMIM Phenotype]
- primary coenzyme Q10 deficiency 4 [DO Concept]
MeSH term(s) associated for indexing
- spinocerebellar ataxias [MeSH Descriptor]
Record concept(s)
- spinocerebellar ataxia, autosomal recessive 9 [MeSH concept]
See also inter- (CISMeF)
- Autosomal recessive ataxia due to ubiquinone deficiency (disorder) [SNOMED CT concept]
- Cerebellar atrophy - ataxia - seizures [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive ataxia due to ubiquinone deficiency [ORDO Disease]
- Autosomal recessive ataxia due to ubiquinone deficiency (disorder) [SNOMED CT concept]
- Coenzyme q10 deficiency, primary, 4 [OMIM Phenotype]