Combined Oxidative Phosphorylation Deficiency 1

Preferred Label : Combined Oxidative Phosphorylation Deficiency 1;

NCIt synonyms : COXPD1;

NCIt definition : A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction.;

Details

Origin ID

C125663;

UMLS CUI

C1836797;

Currated CISMeF NLP mapping
- 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]
- 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]
DO Cross reference
- combined oxidative phosphorylation deficiency 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 1 [MeSH concept]
- combined oxidative phosphorylation deficiency 1 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GFM1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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