combined oxidative phosphorylation deficiency 3

Preferred Label : combined oxidative phosphorylation deficiency 3;

MeSH note : mutation in TSFM;

MeSH synonym : COXPD3; concentric cardiomyopathy, hypotonia, and lactic acidosis; encephalomyopathy, respiratory failure, and lactic acidosis;

Details

Origin ID

C566467;

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]
DO Cross reference
- combined oxidative phosphorylation deficiency 3 [DO Concept]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- mitochondrial myopathies [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
Record concept(s)
- combined oxidative phosphorylation deficiency 3 [MeSH 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]

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