Constitutional Mismatch Repair Deficiency Syndrome

Preferred Label : Constitutional Mismatch Repair Deficiency Syndrome;

NCIt synonyms : Constitutional Mis-Match Repair Deficiency Syndrome; CMMR-D; BMMRD; Constitutional MMR Deficiency; CMMRD; Biallelic Mismatch Repair Deficiency Syndrome;

NCIt related terms : Constitutional Mismatch Repair Deficiency; Biallelic Mismatch Repair Deficiency;

NCIt definition : A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.;

NCI Metathesaurus CUI : CL513816;

Details

Origin ID

C130202;

UMLS CUI

C4321324;

Currated CISMeF NLP mapping
- Constitutional mismatch repair deficiency syndrome [ORDO Disease]
- Constitutional mismatch repair deficiency syndrome (disorder) [SNOMED CT concept]
- Mismatch repair cancer syndrome 1 [OMIM Phenotype]
- mismatch repair cancer syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Constitutional mismatch repair deficiency syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- mismatch repair cancer syndrome 1 [MeSH concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
related_to_genetic_biomarker
- EPCAM Gene [NCIt concept]
- MLH1 Gene [NCIt concept]
- MSH2 Gene [NCIt concept]
- MSH6 Gene [NCIt concept]
- PMS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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