Peroxisomal Acyl-CoA Oxidase Deficiency

Preferred Label : Peroxisomal Acyl-CoA Oxidase Deficiency;

NCIt synonyms : Straight-Chain Acyl-CoA Oxidase Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ACOX1 gene, encoding peroxisomal acyl-coenzyme A oxidase 1. It is characterized by increased concentrations of serum VLCFA and lack of ACOX1 activity. The clinical manifestations of this disease are similar to those of disorders of peroxisomal assembly.;

Détails

Origin ID

C170437;

UMLS CUI

C1849678;

Currated CISMeF NLP mapping
- Acyl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- Peroxisomal ACYL-COA oxidase deficiency [MeSH concept]
- Peroxisomal acyl-CoA oxidase deficiency [ICD-11 More detail]
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
- Peroxisomal acyl-coa oxidase deficiency [OMIM Phenotype]
- peroxisomal ACYL-COA oxidase deficiency [MeSH Supplementary Concept]
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]
DO Cross reference
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- Peroxisomal ACYL-COA oxidase deficiency [MeSH concept]
- Peroxisomal acyl-CoA oxidase deficiency [ICD-11 More detail]
- Peroxisomal acyl-coa oxidase deficiency [OMIM Phenotype]
- peroxisomal ACYL-COA oxidase deficiency [MeSH Supplementary Concept]
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ACOX1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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