combined oxidative phosphorylation deficiency 1

Preferred Label : combined oxidative phosphorylation deficiency 1;

MeSH synonym : hepatoencephalopathy, early fatal progressive; COXPD1;

Origin ID

C563797;

UMLS CUI

C1836797;

CISMeF manual mappings
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Combined Oxidative Phosphorylation Deficiency 1 [NCIt concept]
- Combined oxidative phosphorylation deficiency 1 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 1 [ICD-11 More detail]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 1 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 1 [DO Concept]
MeSH term(s) associated for indexing
- hepatic encephalopathy [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- combined oxidative phosphorylation deficiency 1 [MeSH concept]
See also inter- (CISMeF)
- GFM1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined Oxidative Phosphorylation Deficiency 1 [NCIt concept]
- Combined oxidative phosphorylation deficiency 1 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 1 [ICD-11 More detail]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ORDO Disease]
- combined oxidative phosphorylation deficiency 1 [DO Concept]