combined oxidative phosphorylation deficiency 5

Preferred Label : combined oxidative phosphorylation deficiency 5;

MeSH note : mutation in MRPS22;

MeSH synonym : COXPD5;

Origin ID

C567126;

UMLS CUI

C2673642;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 5 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 5 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 5 [ICD-11 More detail]
- Hypotonia with lactic acidemia and hyperammonemia [ORDO Disease]
- combined oxidative phosphorylation deficiency 5 [DO Concept]
MeSH term(s) associated for indexing
- metabolism, inborn errors [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
Record concept(s)
- combined oxidative phosphorylation deficiency 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 5 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 5 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 5 [ICD-11 More detail]
- Hypotonia with lactic acidemia and hyperammonemia [ORDO Disease]