turcot syndrome

Preferred Label : turcot syndrome;

MeSH note : Malignant tumors of the central nervous system associated with familial polyposis of the colon;

MeSH synonym : CNS tumors with familial polyposis of the colon; mismatch repair deficiency; MMR deficiency; mismatch repair cancer syndrome;

MeSH hyponym : Brain Tumor-Polyposis Syndrome 1; MMRCS1; MMRCS4; MMRCS2; MMRCS3;

Details

Origin ID

C536928;

UMLS CUI

C0265325;

Automatic exact mappings (from CISMeF team)
- Mismatch Repair Deficiency [NCIt concept]
- Mismatch repair cancer syndrome [MedDRA Preferred Term]
- Mismatch repair cancer syndrome [OMIM phenotypic series]
- Nonpolyposis Turcot syndrome [ICD-11 More detail]
- Turcot syndrome with polyposis [ICD-11 More detail]
- Turcot syndrome with polyposis [ORDO Disease]
Currated CISMeF NLP mapping
- Mismatch repair cancer syndrome 1 [OMIM Phenotype]
- Turcot Syndrome [NCIt concept]
- Turcot syndrome (disorder) [SNOMED CT concept]
- turcot syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- brain neoplasms [MeSH Descriptor]
- colorectal neoplasms [MeSH Descriptor]
- neoplastic syndromes, hereditary [MeSH Descriptor]
Record concept(s)
- Turcot syndrome [MeSH concept]
- mismatch repair cancer syndrome 1 [MeSH concept]
- mismatch repair cancer syndrome 2 [MeSH concept]
- mismatch repair cancer syndrome 3 [MeSH concept]
- mismatch repair cancer syndrome 4 [MeSH concept]
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 [NCIt concept]
- Turcot syndrome [MedDRA LLT]
- Turcot syndrome (disorder) [SNOMED CT concept]
- turcot syndrome [SNOMED Notion]

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