combined oxidative phosphorylation deficiency 3

Preferred Label : combined oxidative phosphorylation deficiency 3;

Définition CISMeF : Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0566767;

UMLS CUI

C1864840;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation deficiency 3 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 3 [ICD-11 More detail]
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 [ORDO Disease]
- Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 3 [Disease (Nov.)]
- combined oxidative phosphorylation deficiency 3 [DO Concept]
Related record
- combined oxidative phosphorylation deficiency 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation deficiency 3 [OMIM Phenotype]
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 [ORDO Disease]
- combined oxidative phosphorylation deficiency 3 [Disease (Nov.)]
- combined oxidative phosphorylation deficiency 3 [DO Concept]

Keyword's position in hierarchy(ies) :

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