coenzyme Q10 deficiency

Preferred Label : coenzyme Q10 deficiency;

MeSH note : mutation in COQ2;

MeSH synonym : ubiquinone deficiency; Coq10 deficiency, primary; coenzyme Q deficiency; CoQ deficiency;

Details

Origin ID

C564403;

UMLS CUI

C1843920;

Automatic exact mappings (from CISMeF team)
- Isolated complex I deficiency [ORDO Disease]
- Isolated mitochondrial respiratory chain complex I deficiency [ICD-11 More detail]
- Mitochondrial myopathy with coenzyme Q deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Coenzyme Q10 Deficiency [NCIt concept]
- Coenzyme Q10 deficiency [ICD-11 Sub-sub category]
- Coenzyme Q10 deficiency [ORDO Disease]
- Coenzyme Q10 deficiency (disorder) [SNOMED CT concept]
- coenzyme Q10 deficiency [Disease (Nov.)]
- primary coq10 deficiencies [Error of metabolism category]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- muscle weakness [MeSH Descriptor]
- ubiquinone [MeSH Descriptor]
Record concept(s)
- coenzyme Q10 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coenzyme Q10 Deficiency [NCIt concept]
- Coenzyme Q10 deficiency [ORDO Disease]
- Coenzyme Q10 deficiency [ICD-11 Sub-sub category]
- Coenzyme Q10 deficiency (disorder) [SNOMED CT concept]
- coenzyme Q10 deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Coenzyme q10 deficiency, primary, 1 [OMIM Phenotype]

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