Combined oxidative phosphorylation deficiency type 2

Preferred Label : Combined oxidative phosphorylation deficiency type 2;

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 2.;

ICD-11 synonym : COXPD2 - [Combined oxidative phosphorylation deficiency type 2]; Corpus callosum agenesis with dysmorphism and fatal lactic acidosis;

ICD-11 acronym : COXPD2;

Details

Origin ID

1576919076;

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 2 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 2 [MeSH concept]
- combined oxidative phosphorylation deficiency 2 [DO 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 2 [MeSH concept]
- combined oxidative phosphorylation deficiency 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients