Zellweger Syndrome

Preferred Label : Zellweger Syndrome;

NCIt definition : A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.;

Details

Origin ID

C85239;

UMLS CUI

C0043459;

Automatic exact mappings (from CISMeF team)
- peroxisomal biogenesis factor 2 [ORDO Gene]
- peroxisomal biogenesis factor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Cerebrohepatorenal syndrome [PASCAL descriptor]
- Cerebrohepatorenal syndrome [MedDRA Preferred Term]
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category (who)]
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category]
- Peroxisome biogenesis disorder 1a (zellweger) [OMIM Phenotype]
- Pseudo-Zellweger syndrome [MeSH concept]
- Zellweger syndrome [DO Concept]
- Zellweger syndrome [Disease (Nov.)]
- Zellweger syndrome [ICD-11 More detail]
- Zellweger syndrome [ORDO Disease]
- Zellweger syndrome [MedDRA LLT]
- 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]
DO Cross reference
- Zellweger syndrome [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrohepatorenal syndrome [MedDRA Preferred Term]
- Peroxisome biogenesis disorder 1a (zellweger) [OMIM Phenotype]
- Zellweger syndrome [ORDO Disease]
- Zellweger syndrome [DO Concept]
- Zellweger syndrome [ICD-11 More detail]
- Zellweger syndrome [MedDRA LLT]
- Zellweger syndrome (disorder) [SNOMED CT concept]
- zellweger syndrome [MeSH concept]
- zellweger syndrome [MeSH Descriptor]
- zellweger syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- Peroxisome Biogenesis Factor Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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