Muir-Torre Syndrome

Preferred Label : Muir-Torre Syndrome;

NCIt definition : A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract.;

Details

Origin ID

C84905;

UMLS CUI

C1321489;

Currated CISMeF NLP mapping
- Muir Torre syndrome [Disease (Nov.)]
- Muir-Torre syndrome [PASCAL descriptor]
- Muir-Torre syndrome [DO Concept]
- Muir-Torre syndrome [ICD-11 More detail]
- Muir-Torre syndrome [MedDRA Preferred Term]
- Muir-Torre syndrome [MeSH Descriptor]
- Muir-Torre syndrome [MeSH concept]
- Muir-Torre syndrome [ORDO Disease]
- Muir-torre syndrome [OMIM Phenotype]
- Torré-Muir syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Muir-Torre syndrome [DO Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Muir Torre syndrome [Disease (Nov.)]
- Muir-Torre syndrome [ORDO Disease]
- Muir-Torre syndrome [PASCAL descriptor]
- Muir-Torre syndrome [DO Concept]
- Muir-Torre syndrome [ICD-11 More detail]
- Muir-Torre syndrome [MedDRA Preferred Term]
- Muir-Torre syndrome [MeSH concept]
- Muir-Torre syndrome [MeSH Descriptor]
- Muir-torre syndrome [OMIM Phenotype]
- Torré-Muir syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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