Gaucher disease type 2

Preferred Label : Gaucher disease type 2;

ICD-11 definition : Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.;

ICD-11 synonym : Infantile Gaucher disease; Acute neuronopathic Gaucher disease; Cerebral acute Gaucher disease; Infantile cerebral Gaucher disease;

Details

Origin ID

113306978;

Currated CISMeF NLP mapping
- Acute cerebral Gaucher disease [MeSH concept]
- Acute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher disease type 2 [ORDO Disease]
- Gaucher disease type II [Disease (Nov.)]
- Gaucher disease, type II [OMIM Phenotype]
- Gaucher's disease type II [DO Concept]
- Gaucher's disease type II [MedDRA Preferred Term]
- acute cerebral gaucher disease [MeSH Supplementary Concept]
- acute neuronopathic gaucher's disease [SNOMED Notion]
- gaucher disease, type 2 [MeSH concept]
Validated automatic mappings to NTBT
- gaucher disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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