Pseudo-Zellweger syndrome

Preferred Label : Pseudo-Zellweger syndrome;

MeSH synonym : pseudo zellweger syndrome leukodystrophy;

Origin ID

C535818;

UMLS CUI

C1533628;

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 thiolase deficiency (disorder) [SNOMED CT concept]
- Pseudo-Zellweger syndrome [ICD-11 More detail]
- Pseudo-Zellweger syndrome [ORDO Disease]
- Zellweger's-like syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- beta-ketothiolase deficiency [DO Concept]
MeSH term(s) associated for indexing
- zellweger syndrome [MeSH Descriptor]
Ne pas confondre avec
- Zellweger syndrome [ORDO Disease]
ORDO relation(s)
- Pseudo-Zellweger syndrome [ORDO Disease]
Record concept(s)
- Pseudo-Zellweger syndrome [MeSH concept]
See also inter- (CISMeF)
- Zellweger syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peroxisomal thiolase deficiency (disorder) [SNOMED CT concept]
- Pseudo-Zellweger syndrome [ORDO Disease]
- beta-ketothiolase deficiency [DO Concept]