Gaucher Disease

Preferred Label : Gaucher Disease;

NCIt related terms : Glucosylceramide Beta-Glucosidase Deficiency;

NCIt definition : An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.;

Details

Origin ID

C61268;

UMLS CUI

C0017205;

Automatic exact mappings (from CISMeF team)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- Other sphingolipidosis [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Gaucher disease [PASCAL descriptor]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [LOINC component]
- Gaucher disease [ACR pathology]
- Gaucher disease [Disease (Nov.)]
- Gaucher disease [ICD-11 More detail]
- Gaucher disease [Radlex concept]
- Gaucher disease [ORDO Disease]
- Gaucher's disease [DO Concept]
- Gaucher's disease [MedDRA Preferred Term]
- Glucosylceramide beta-glucosidase deficiency (disorder) [SNOMED CT concept]
- gaucher disease [MedlinePlus Topic]
- gaucher disease [MeSH Descriptor]
- gaucher disease [MeSH concept]
- gaucher's disease, nos [SNOMED Notion]
DO Cross reference
- Gaucher's disease [DO Concept]
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 [ORDO Disease]
- Gaucher disease [LOINC component]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [Radlex concept]
- Gaucher disease [PASCAL descriptor]
- Gaucher disease [Disease (Nov.)]
- Gaucher disease [ICD-11 More detail]
- 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 concept]
- gaucher disease [MeSH Descriptor]
- gaucher's disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Chronic non-neuropathic Gaucher's disease (disorder) [SNOMED CT concept]
- chronic non-neuropathic gaucher's disease [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GBA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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