Combined oxidative phosphorylation deficiency type 1

Preferred Label : Combined oxidative phosphorylation deficiency type 1;

ICD-11 definition : This is the combined oxiedative deficiency addition of a phosphate (PO43-) group to a protein or other organic molecule. This diagnosis is type 1.;

ICD-11 synonym : Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1; COXPD1 - [Combined oxidative phosphorylation deficiency type 1]; Early fatal progressive hepatoencephalopathy;

ICD-11 acronym : COXPD1;

Details

Origin ID

1373381208;

UMLS CUI

C1836797;

Currated CISMeF NLP mapping
- Combined Oxidative Phosphorylation Deficiency 1 [NCIt concept]
- Combined oxidative phosphorylation deficiency 1 [OMIM Phenotype]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ORDO Disease]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 1 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 1 [MeSH concept]
- combined oxidative phosphorylation deficiency 1 [DO 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]
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ORDO Disease]
- combined oxidative phosphorylation deficiency 1 [MeSH concept]
- combined oxidative phosphorylation deficiency 1 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 1 [DO Concept]

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