Zellweger syndrome

Preferred Label : Zellweger syndrome;

ICD-11 definition : Zellweger syndrome is a rare peroxisomal metabolic-dysplasia disorder characterized by dysmorphic craniofacial features, profound hypotonia, seizures, and liver and renal dysfunction.;

ICD-11 synonym : Zellweger spectrum disorder, severe form; Cerebrohepatorenal syndrome;

Details

Origin ID

226023718;

UMLS CUI

C0043459;

Automatic exact mappings (from CISMeF team)
- peroxisomal biogenesis factor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Cerebrohepatorenal syndrome [PASCAL descriptor]
- Cerebrohepatorenal syndrome [MedDRA Preferred Term]
- Zellweger Syndrome [NCIt concept]
- Zellweger syndrome [MedDRA LLT]
- Zellweger syndrome [DO Concept]
- Zellweger syndrome [ORDO Disease]
- Zellweger syndrome [Disease (Nov.)]
- Zellweger syndrome (disorder) [SNOMED CT concept]
- Zellweger's-like syndrome (disorder) [SNOMED CT concept]
- zellweger syndrome [MeSH Descriptor]
- zellweger syndrome [MeSH concept]
- zellweger syndrome [SNOMED Notion]
See also inter- (CISMeF)
- Peroxisome Biogenesis Disorder 1A [NCIt concept]
- Peroxisome biogenesis disorder 1a (zellweger) [OMIM Phenotype]
- Pseudo-Zellweger syndrome [MeSH concept]
- Pseudo-Zellweger syndrome [ORDO Disease]
- peroxisomal biogenesis factor 2 [ORDO Gene]
- peroxisome biogenesis disorder 1A [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrohepatorenal syndrome [MedDRA Preferred Term]
- Zellweger Syndrome [NCIt concept]
- Zellweger syndrome [DO Concept]
- Zellweger syndrome [MedDRA LLT]
- Zellweger syndrome [ORDO Disease]
- Zellweger syndrome (disorder) [SNOMED CT concept]
- zellweger syndrome [MeSH Descriptor]
- zellweger syndrome [MeSH concept]
- zellweger syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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