Gaucher disease
ICD-10 Code
E75.22
Gaucher disease
Definition
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).
Also known as acid beta-glucosidase deficiency, Gaucher disease, Gaucher syndrome, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficiency, glucosylceramide beta-glucosidase deficiency, lipoid histiocytosis (kerasin type) — per MONDO
Also identified as
- DOID 1926 per MONDO
- ICD10CM E75.22 per MONDO
- MESH D005776 per MONDO
- NCIT C61268 per MONDO
- Orphanet 355 per MONDO
- SCTID 190794006 per MONDO
- UMLS C0017205 per MONDO
Drugs indicated
| Drug | Relation | Source |
|---|---|---|
| Cycloserine | may treat | MEDRT · Public domain (U.S. Government work) |
| Eliglustat | may treat | MEDRT · Public domain (U.S. Government work) |
| Miglustat | may treat | MEDRT · Public domain (U.S. Government work) |