Muir-Torre syndrome

Preferred Label : Muir-Torre syndrome;

ICD-11 definition : Muir-Torre syndrome is an alternative form (variant) of hereditary non-polyposis colorectal cancer (HNPCC) with sebaceous tumours and keratoacanthocytomas. People with Muir-Torre syndrome are also at risk for developing certain skin changes in adulthood that may form in the sebaceous glands. Two genes have been linked to Muir-Torre syndrome, MLH1 and MSH2. People with Muir-Torre syndrome have an increased risk of the types of cancer seen in HNPCC.;

Details

Origin ID

229304403;

UMLS CUI

C1321489;

Currated CISMeF NLP mapping
- Muir Torre syndrome [Disease (Nov.)]
- Muir-Torre Syndrome [NCIt concept]
- Muir-Torre syndrome [ORDO Disease]
- Muir-Torre syndrome [MeSH Descriptor]
- Muir-Torre syndrome [MeSH concept]
- Muir-Torre syndrome [DO Concept]
- Muir-Torre syndrome [MedDRA Preferred Term]
- Muir-Torre syndrome [PASCAL descriptor]
- Muir-torre syndrome [OMIM Phenotype]
- Torré-Muir syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Muir Torre syndrome [Disease (Nov.)]
- Muir-Torre Syndrome [NCIt concept]
- Muir-Torre syndrome [DO Concept]
- Muir-Torre syndrome [MedDRA Preferred Term]
- Muir-Torre syndrome [MeSH Descriptor]
- Muir-Torre syndrome [MeSH concept]
- Muir-Torre syndrome [ORDO Disease]
- Muir-Torre syndrome [PASCAL descriptor]
- Muir-torre syndrome [OMIM Phenotype]
- Torré-Muir syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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