Hereditary Nonpolyposis Colorectal Cancer Syndrome

Preferred Label : Hereditary Nonpolyposis Colorectal Cancer Syndrome;

NCIt synonyms : Hereditary Nonpolyposis Colorectal Cancer; Familial Nonpolyposis Colorectal Cancer Syndrome;

NCIt related terms : Hereditary Nonpolyposis Colorectal Cancer (HNPCC); HNPCC; Hereditary Non-polyposis Colon Cancer; hereditary nonpolyposis colon cancer;

NCIt definition : An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers. It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes.;

Alternative definition : NCI-GLOSS: An inherited disorder in which affected individuals have a higher-than-normal chance of developing colorectal cancer and certain other types of cancer, often before the age of 50.;

Codes from synonyms : CDR0000044884; CDR0000044410;

Details

Origin ID

C120083;

UMLS CUI

C1333990;

Automatic exact mappings (from CISMeF team)
- hnpcc [EMDN type]
Currated CISMeF NLP mapping
- Colorectal cancer, hereditary nonpolyposis [OMIM phenotypic series]
- Hereditary non-polyposis colorectal cancer syndrome [MedDRA Preferred Term]
- Hereditary nonpolyposis colon cancer [ORDO Disease]
- Hereditary nonpolyposis colon cancer (disorder) [SNOMED CT concept]
- Hereditary nonpolyposis colorectal cancer [PASCAL descriptor]
- Hereditary nonpolyposis colorectal cancer [ICD-11 More detail]
- Lynch syndrome [ORDO Disease]
- Lynch syndrome [DO Concept]
- Lynch syndrome [MedDRA LLT]
- hereditary nonpolyposis colorectal cancer [MeSH concept]
- hereditary nonpolyposis colorectal cancer [Disease (Nov.)]
DO Cross reference
- Lynch syndrome [DO Concept]
See also inter- (CISMeF)
- familial colorectal cancer type X [Disease (Nov.)]
- mutL homolog 1 [ORDO Gene]
- mutS homolog 2 [ORDO Gene]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary nonpolyposis colon cancer (disorder) [SNOMED CT concept]
- hereditary nonpolyposis colorectal cancer [MeSH concept]
Validated automatic mappings to NTBT
- colorectal neoplasms, hereditary nonpolyposis [MeSH Descriptor]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_has_associated_disease
- Colorectal Carcinoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients