Peroxisome Biogenesis Disorder

Preferred Label : Peroxisome Biogenesis Disorder;

NCIt synonyms : PBD;

NCIt definition : A group of conditions characterized by impairment of peroxisome assembly and metabolic pathways confined to this organelle, caused by mutation(s) in the peroxin (PEX) gene family. Phenotypically, they manifest as Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP1), the latter a distinct peroxisome biogenesis disorder phenotype. ZS, NALD, and IRD have multiple complementation groups and form a spectrum of diseases with overlapping features.;

Details

Origin ID

C155747;

UMLS CUI

C1832200;

Automatic exact mappings (from CISMeF team)
- Peroxisome biogenesis disorder [OMIM phenotypic series]
- Zellweger syndrome [DO Concept]
- disorders of peroxisomal biogenesis [Error of metabolism category]
CISMeF manual mappings
- peroxisome biogenesis disorders [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Disorders of peroxisome biogenesis [ICD-11 Subcategory]
- Peroxisome biogenesis disorder [ORDO Disease]
- Peroxisome biogenesis disorder (disorder) [SNOMED CT concept]
- Peroxisome biogenesis disorders [MeSH concept]
- peroxisomal biogenesis disorder [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorders of peroxisome biogenesis [ICD-11 Subcategory]
- Peroxisome biogenesis disorder [ORDO Disease]
- Peroxisome biogenesis disorder (disorder) [SNOMED CT concept]
- Peroxisome biogenesis disorders [MeSH concept]
- peroxisomal biogenesis disorder [DO Concept]
- peroxisome biogenesis disorders [MeSH Supplementary Concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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