Mismatch Repair Deficiency

Preferred Label : Mismatch Repair Deficiency;

NCIt synonyms : MMR Deficient; Deficient DNA Mismatch Repair; MMR Deficiency; Mismatch Repair Deficient; dMMR;

NCIt definition : A finding indicating that a cellular sample has high microsatellite instability and/or a functional loss of a protein involved in the DNA mismatch repair process.;

NCI Metathesaurus CUI : CL524520;

Details

Origin ID

C136712;

UMLS CUI

C4522088;

Automatic exact mappings (from CISMeF team)
- mismatch repair cancer syndrome [DO Concept]
- turcot syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- mismatch repair deficient/microsatellite instability-high recurrent or advanced endometrial cancer that has progressed [Indication]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to BTNT
- Mismatch repair cancer syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_finding_of_disease
- Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma [NCIt concept]
is_not_finding_of_disease
- No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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