Turcot Syndrome

Preferred Label : Turcot Syndrome;

NCIt definition : An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.;

Details

Origin ID

C3938;

UMLS CUI

C0265325;

Currated CISMeF NLP mapping
- Mismatch repair cancer syndrome 1 [OMIM Phenotype]
- Turcot syndrome [MeSH concept]
- Turcot syndrome (disorder) [SNOMED CT concept]
- mismatch repair cancer syndrome [DO Concept]
- turcot syndrome [MeSH Supplementary Concept]
- turcot syndrome [SNOMED Notion]
See also inter- (CISMeF)
- Constitutional mismatch repair deficiency syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mismatch repair cancer syndrome [MedDRA Preferred Term]
- Mismatch repair cancer syndrome 1 [OMIM Phenotype]
- Turcot syndrome [MeSH concept]
- Turcot syndrome [MedDRA LLT]
- Turcot syndrome (disorder) [SNOMED CT concept]
- turcot syndrome [MeSH Supplementary Concept]
- turcot syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- mismatch repair cancer syndrome 1 [MeSH concept]
associated_with_malfunction_of_gene_product
- Mismatch Repair Endonuclease PMS2 [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_has_associated_disease
- Malignant Central Nervous System Neoplasm [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_may_have_associated_disease
- Colorectal Adenoma [NCIt concept]
- Colorectal Carcinoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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