leigh syndrome , french canadian type

Preferred Label : leigh syndrome , french canadian type;

MeSH synonym : leigh syndrome, saguenay lac saint jean type; cytochrome c oxidase deficiency, french canadian type; cox deficiency, french canadian type; cox deficiency, saguenay lac saint jean type; leigh syndrome, French-Canadian type; cox deficiency, French-Canadian type; cox deficiency, Saguenay-Lac Saint-Jean type; cytochrome C oxidase deficiency, French-Canadian type; leigh syndrome, Saguenay-Lac Saint-Jean type;

Details

Origin ID

C537004;

UMLS CUI

C1857355;

Currated CISMeF NLP mapping
- Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) [SNOMED CT concept]
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [ORDO Disease]
- French Canadian Leigh disease [DO Concept]
- Mitochondrial complex iv deficiency, nuclear type 5 [OMIM Phenotype]
- Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency [ICD-11 More detail]
DO Cross reference
- French Canadian Leigh disease [DO Concept]
MeSH term(s) associated for indexing
- cytochrome-c oxidase deficiency [MeSH Descriptor]
- leigh disease [MeSH Descriptor]
Record concept(s)
- Leigh syndrome , French Canadian type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) [SNOMED CT concept]
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [ORDO Disease]
- French Canadian Leigh disease [DO Concept]
- Mitochondrial complex iv deficiency, nuclear type 5 [OMIM Phenotype]
- Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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