Peroxisomal acyl-CoA oxidase deficiency

Preferred Label : Peroxisomal acyl-CoA oxidase deficiency;

ICD-11 definition : Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.;

ICD-11 synonym : Pseudoadrenoleukodystrophy; Pseudo-neonatal adrenoleukodystrophy;

Détails

Origin ID

927825451;

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 [NCIt concept]
- Peroxisomal acyl-coa oxidase deficiency [OMIM Phenotype]
- peroxisomal ACYL-COA oxidase deficiency [MeSH Supplementary Concept]
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]
See also inter- (CISMeF)
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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