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Gaucher disease with ophthalmoplegia and cardiovascular calcification

MedGen UID:
419117
•Concept ID:
C2931585
•
Disease or Syndrome
Synonyms: Gaucher-like disease; Pseudo Gaucher disease
SNOMED CT: Gaucher disease with ophthalmoplegia and cardiovascular calcification (1156813002); Gaucher's disease type 3C (1156813002); Gaucher-like disease (1156813002); Cardiovascular Gaucher disease (1156813002)

Definition

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. [from ORPHANET]

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