Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency

Preferred Label : Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency;

ICD-11 definition : Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.;

ICD-11 synonym : SLSJ-COX deficiency; SLSJ-COX - [Saguenay-Lac-Saint-Jean cytochrome C oxidase] deficiency; COX deficiency, French-Canadian type; French-Canadian cytochrome C oxidase deficiency; Leigh syndrome, Saguenay-Lac-St. Jean type; Leigh syndrome, French-Canadian type;

Details

Origin ID

820983487;

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]
- Leigh syndrome , French Canadian type [MeSH concept]
- Mitochondrial complex iv deficiency, nuclear type 5 [OMIM Phenotype]
- leigh syndrome , french canadian type [MeSH Supplementary 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]
- Leigh syndrome , French Canadian type [MeSH concept]
- Mitochondrial complex iv deficiency, nuclear type 5 [OMIM Phenotype]
- leigh syndrome , french canadian type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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