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Gaucher disease

^ http://www.orpha.net/ORDO/Orphanet_355


Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

Synonyms: Glucocerebrosidase deficiency, Acid beta-glucosidase deficiency

Term info

database cross reference
  • OMIM:610539 (BTNT (broader term maps to a narrower term))
  • OMIM:608013 (BTNT (broader term maps to a narrower term))
  • MedDRA:10018048 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:230900 (BTNT (broader term maps to a narrower term))
  • OMIM:231000 (BTNT (broader term maps to a narrower term))
  • OMIM:231005 (BTNT (broader term maps to a narrower term))
  • ICD-10:E75.2 (NTBT (narrower term maps to a broader term))
  • ICD-10:E75.2 (Inclusion term (The term is included under a ICD10 category and has not its own code))
  • MeSH:D005776 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:230800 (BTNT (broader term maps to a narrower term))
  • UMLS:C0017205 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:231000, MeSH:D005776, OMIM:231005, OMIM:230800, OMIM:608013, OMIM:230900, UMLS:C0017205, OMIM:610539, MedDRA:10018048, ICD-10:E75.2

notation

ORPHA:355

Term relations

Subclass of: