Gaucher disease type 1

Preferred Label : Gaucher disease type 1;

ICD-11 definition : Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (a lysosomal storage disorder caused by a deficiency in glucocerebrosidase) characterized by organomegaly, bone involvement and cytopenia.;

ICD-11 synonym : Noncerebral juvenile Gaucher disease; Adult Gaucher disease;

Details

Origin ID

182529822;

Currated CISMeF NLP mapping
- Chronic non-neuropathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher disease type 1 [ORDO Disease]
- Gaucher disease type I [Disease (Nov.)]
- Gaucher disease, type I [OMIM Phenotype]
- Gaucher's disease type I [DO Concept]
- Gaucher's disease type I [MedDRA Preferred Term]
- gaucher disease, type 1 [MeSH concept]
See also inter- (CISMeF)
- Glucosylceramide beta-glucosidase deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Gaucher disease [ORDO Disease]
- gaucher disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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