Peroxisomal D-bifunctional enzyme deficiency

Preferred Label : Peroxisomal D-bifunctional enzyme deficiency;

ICD-11 definition : This refers to the autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes.;

ICD-11 synonym : Bifunctional enzyme deficiency;

Details

Origin ID

996981847;

UMLS CUI

C0342870;

Currated CISMeF NLP mapping
- Bifunctional enzyme deficiency [ORDO Disease]
- Bifunctional peroxisomal enzyme deficiency (disorder) [SNOMED CT concept]
- D-Bifunctional Protein Deficiency [NCIt concept]
- D-bifunctional protein deficiency [OMIM Phenotype]
- D-bifunctional protein deficiency [DO Concept]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- 17 beta hydroxysteroid dehydrogenase IV deficiency [Disease (Nov.)]
- Bifunctional enzyme deficiency [ORDO Disease]
- Bifunctional peroxisomal enzyme deficiency (disorder) [SNOMED CT concept]
- D-Bifunctional Protein Deficiency [NCIt concept]
- D-bifunctional protein deficiency [DO Concept]
- D-bifunctional protein deficiency [OMIM Phenotype]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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