Gaucher disease

Preferred Label : Gaucher disease;

ICD-11 definition : Gaucher disease is a lysosomal storage disorder by the presence of glucosylceramide (or glucocerebroside) deposits in the reticuloendothelial cells of the liver, spleen and bone marrow, and 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).;

ICD-11 synonym : Cerebroside lipidosis syndrome; Glucocerebrosidosis; Glucosylceramide beta-glucosidase deficiency; Glucocerebrosidase deficiency; Acid beta-glucosidase deficiency;

Details

Origin ID

1923566939;

UMLS CUI

C0017205;

Currated CISMeF NLP mapping
- Gaucher Disease [NCIt concept]
- Gaucher disease [PASCAL descriptor]
- Gaucher disease [LOINC component]
- Gaucher disease [Radlex concept]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher's disease [MedDRA Preferred Term]
- Gaucher's disease [DO Concept]
- Glucosylceramide beta-glucosidase deficiency (disorder) [SNOMED CT concept]
- gaucher disease [MeSH concept]
- gaucher disease [MedlinePlus Topic]
- gaucher disease [MeSH Descriptor]
- gaucher's disease, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic non-neuropathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher Disease [NCIt concept]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [LOINC component]
- Gaucher disease [Disease (Nov.)]
- Gaucher disease [ORDO Disease]
- Gaucher disease [PASCAL descriptor]
- Gaucher disease [Radlex concept]
- Gaucher's disease [DO Concept]
- Gaucher's disease [MedDRA Preferred Term]
- Glucosyl cerebroside lipidosis [MedDRA LLT]
- Glucosylceramide beta-glucosidase deficiency (disorder) [SNOMED CT concept]
- Kerasin thesaurismosis (disorder) [SNOMED CT concept]
- chronic non-neuropathic gaucher's disease [SNOMED Notion]
- gaucher disease [MedlinePlus Topic]
- gaucher disease [MeSH Descriptor]
- gaucher disease [MeSH concept]
- gaucher's disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Gaucher disease, type I [OMIM Phenotype]
- Gaucher's disease type I [DO Concept]

Keyword's position in hierarchy(ies) :

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