peroxisomal ACYL-COA oxidase deficiency

Preferred Label : peroxisomal ACYL-COA oxidase deficiency;

MeSH synonym : straight-chain ACYL-COA oxidase deficiency; pseudoneonatal adrenoleukodystrophy;

Details

Origin ID

C536662;

UMLS CUI

C1849678;

Currated CISMeF NLP mapping
- Acyl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- Peroxisomal Acyl-CoA Oxidase Deficiency [NCIt 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 [DO Concept]
DO Cross reference
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]
Has phenotype(s) (HPO)
- Abnormal liver function tests [HPO term]
- Demyelination [HPO term]
- Flattened nasal bridge [HPO term]
- Flattened or absent electroretinogram [HPO term]
MeSH term(s) associated for indexing
- Acyl-CoA oxidase [MeSH Descriptor]
- adrenoleukodystrophy [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
Record concept(s)
- Peroxisomal ACYL-COA oxidase deficiency [MeSH concept]
See also (suggested by CISMeF)
- peroxisomal acyl-CoA oxidase [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Neonatal adrenoleukodystrophy [ORDO Disease]
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 [NCIt concept]
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
- Peroxisomal acyl-CoA oxidase deficiency [ICD-11 More detail]
- Peroxisomal acyl-coa oxidase deficiency [OMIM Phenotype]
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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