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Hereditary Nonpolyposis Colorectal Cancer (CUI C0009405) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0009405

NCI Thesaurus Code: C120083  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

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.

SNOMEDCT_US Definition: Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy.

NCI-GLOSS Definition: 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.

MSH Definition: HNPCC with no history of associated cancers.

MSH Definition: A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.

Synonyms & Abbreviations: (see Synonym Details)
Colorectal cancer, hereditary nonpolyposis
COLORECTAL NEOPL HEREDITARY NONPOLYPOSIS
Colorectal Neoplasms, Hereditary Nonpolyposis [Disease/Finding]
Colorectal Neoplasms, Hereditary Nonpolyposis
Familial Nonpolyposis Colon Cancer
Familial nonpolyposis colorectal cancer
hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal cancer
Hereditary Nonpolyposis Colorectal Neoplasms
HEREDITARY NONPOLYPOSIS COLORECTAL NEOPL
HNPCC - hereditary nonpolyposis colon cancer
HNPCC - hereditary nonpolyposis colorectal cancer
HNPCC

External Source Codes: 
NCI Thesaurus Code C120083 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN DF: HNPCC MSH
AQL BL BS CF CH CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SC SE SU TH UL UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID XaFsw SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 20747 GARD
DISEASE_IDENTIFIER_ID 20748 GARD
DISEASE_IDENTIFIER_ID 30704 GARD
DX 19870101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HN 87 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
MDA 19860624 MSH
MESH_DEFINITION A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. NDFRT
MESH_DUI D003123 NDFRT
MESH_NAME Colorectal Neoplasms, Hereditary Nonpolyposis NDFRT
MESH_UI M0004834 NDFRT
MMR 20130708 MSH
MN C04.588.274.476.411.307.190 MSH
MN C04.700.250 MSH
MN C06.301.371.411.307.190 MSH
MN C06.405.249.411.307.190 MSH
MN C06.405.469.158.356.190 MSH
MN C06.405.469.491.307.190 MSH
MN C16.320.700.250 MSH
MN C18.452.284.255 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
Neoplastic_Status Malignant NCI
NUI N0000000818 NDFRT
PM 87 MSH
RXAUI 3134573 RXNORM
RXAUI 3134574 RXNORM
RXAUI 3172460 RXNORM
RXAUI 5930921 RXNORM
RXCUI 1027007 RXNORM
SNOMED_CID 315058005 NDFRT
SNOMEDID D5-F132D SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS C18.9 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~C18.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS C18.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~C18.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XaFsw SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D5-F132D SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T009103 MSH
TERMUI T009104 MSH
TERMUI T009106 MSH
TERMUI T841938 MSH
TH GHR (2014) MSH
TH NLM (1987) MSH
TH NLM (1997) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0009405

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