encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency

Preferred Label : encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency;

MeSH note : mutations in TMEM70;

Origin ID

C567528;

UMLS CUI

C3279699;

Currated CISMeF NLP mapping
- Isolated ATP synthase deficiency [ORDO Disease]
- Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 [OMIM Phenotype]
- mitochondrial complex V (ATP synthase) deficiency nuclear type 2 [DO Concept]
MeSH term(s) associated for indexing
- mitochondrial Proton-Translocating ATPases [MeSH Descriptor]
- mitochondrial encephalomyopathies [MeSH Descriptor]
Record concept(s)
- encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency [MeSH concept]
See also inter- (CISMeF)
- Isolated ATP synthase deficiency [ICD-11 Sub-sub category]
- Isolated adenosine triphosphate synthase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated ATP synthase deficiency [ORDO Disease]
- Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 [OMIM Phenotype]
- TMEM70-related mitochondrial encephalo-cardio-myopathy [ORDO Disease]
- mitochondrial complex V (ATP synthase) deficiency nuclear type 2 [DO Concept]