combined oxidative phosphorylation deficiency 2

Preferred Label : combined oxidative phosphorylation deficiency 2;

MeSH synonym : corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis; COXPD2;

Details

Origin ID

C566468;

UMLS CUI

C1864843;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 2 [ORDO Disease]
- Combined oxidative phosphorylation defect type 2 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 2 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 2 [ICD-11 More detail]
- combined oxidative phosphorylation deficiency 2 [DO Concept]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- agenesis of corpus callosum [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
Record concept(s)
- combined oxidative phosphorylation deficiency 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 2 [ORDO Disease]
- Combined oxidative phosphorylation defect type 2 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 2 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 2 [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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