Tangier Disease

Preferred Label : Tangier Disease;

NCIt definition : A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the tissues. Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia.;

Details

Origin ID

C85182;

UMLS CUI

C0039292;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily A member 1 [ORDO Gene]
- ATP binding cassette subfamily A member 1 [HGNC gene]
- Analphalipoproteinaemia [ICD-11 More detail]
- Hypoalphalipoproteinemia [PASCAL descriptor]
- Lipoprotein deficiency [ICD-10 Sub-category]
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Familial hypoalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hypoalphalipoproteinemia, primary, 1 [OMIM Phenotype]
- Tangier disease [Disease (Nov.)]
- Tangier disease [DO Concept]
- Tangier disease [MedDRA Preferred Term]
- Tangier disease [OMIM Phenotype]
- Tangier disease [ORDO Disease]
- Tangier disease (disorder) [SNOMED CT concept]
- familial hypoalphalipoproteinemia [SNOMED Notion]
- hypoalphalipoproteinemia, familial [MeSH concept]
- tangier disease [MeSH Descriptor]
- tangier disease [MeSH concept]
DO Cross reference
- Tangier disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tangier disease [ORDO Disease]
- Tangier disease [OMIM Phenotype]
- Tangier disease [DO Concept]
- Tangier disease [MedDRA Preferred Term]
- Tangier disease (disorder) [SNOMED CT concept]
- tangier disease [MeSH Descriptor]
- tangier disease [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ABCA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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