Pseudo-Zellweger syndrome

Preferred Label : Pseudo-Zellweger syndrome;

ICD-11 definition : Pseudo-Zellweger syndrome is a peroxisomal disorder characterized by the same clinical signs as those observed in classical Zellweger syndrome but with the presence of abundant and voluminous peroxisomes in the liver cells, instead of lack of functional peroxisomes.;

ICD-11 synonym : 3-keto acyl-CoA thiolase deficiency; Peroxisomal thiolase deficiency;

Details

Origin ID

1326997060;

Currated CISMeF NLP mapping
- 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 [OMIM Phenotype]
- D-bifunctional protein deficiency [DO Concept]
- Peroxisomal bifunctional enzyme deficiency [MeSH concept]
- Pseudo-Zellweger syndrome [MeSH Supplementary Concept]
- Pseudo-Zellweger syndrome [MeSH concept]
- Pseudo-Zellweger syndrome [ORDO Disease]
See also inter- (CISMeF)
- Peroxisomal thiolase deficiency (disorder) [SNOMED CT concept]
- Zellweger's-like syndrome (disorder) [SNOMED CT concept]
- beta-ketothiolase deficiency [DO Concept]

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