zellweger syndrome

Preferred Label : zellweger syndrome;

MeSH definition : An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.;

MeSH synonym : cerebro hepato renal syndrome; zellweger's syndrome; zellweger disease; cerebro-hepato-renal syndrome; cerebrohepatorenal syndrome;

CISMeF synonym : cerebro-hepato-renal syndromes; cerebrohepatorenal syndromes; zellwegers syndrome;

MeSH Hyperonym : zellweger spectrum; Spectrum, Zellweger; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Zellweger Syndrome Spectrum; PBD, ZSS;

Related MeSH term : Zellweger-Like syndrome; Zellweger Like Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Zellweger syndrome;

Details

Origin ID

D015211;

UMLS CUI

C0043459;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- Pseudo-Zellweger syndrome [ORDO Disease]
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]
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category (who)]
- Peroxisome biogenesis disorder 1a (zellweger) [OMIM Phenotype]
- Zellweger Syndrome [NCIt 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 [SNOMED Notion]
DO Cross reference
- Zellweger syndrome [DO Concept]
Indexing information
- PEX1 protein, human [MeSH Supplementary Concept]
- PEX13 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Craniofacial anomaly with cataract [ORDO Disease]
- Developmental anomaly of metabolic origin [ORDO Disease]
- Disorder of energy metabolism [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Peroxisomal beta-oxidation disorder [ORDO Disease]
- Peroxisome biogenesis disorder [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
- Syndromic neurometabolic disease with non-X-linked intellectual disability [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Zellweger syndrome [ORDO Disease]
Record concept(s)
- Zellweger-Like syndrome [MeSH concept]
- zellweger spectrum [MeSH concept]
- zellweger syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Pseudo-Zellweger syndrome [MeSH Supplementary Concept]
- cerebrohepatorenal syndrome, variant types [MeSH Supplementary Concept]
- zellweger leukodystrophy [MeSH Supplementary 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 [NCIt concept]
- 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 [SNOMED Notion]

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