Lynch Syndrome

Preferred Label : Lynch Syndrome;

NCIt synonyms : Hereditary Colorectal Endometrial Cancer Syndrome; Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2); Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2); Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2); Hereditary Defective Mismatch Repair Syndrome; Hereditary Non-Polyposis Colon Cancer;

NCIt definition : An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.;

Codes from synonyms : CDR0000044882;

Details

Origin ID

C8494;

UMLS CUI

C4552100;

Disease may have findings
- Lower Gastrointestinal Hemorrhage [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lynch syndrome [MedDRA LLT]
- Lynch syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Familial nonpolyposis colorectal cancer [ICD-11 More detail]
- Hereditary nonpolyposis colon cancer [ORDO Disease]
- Hereditary nonpolyposis colorectal cancer [ICD-11 More detail]
- Lynch syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Hereditary non-polyposis colorectal cancer syndrome [MedDRA Preferred Term]
- Hereditary nonpolyposis colon cancer (disorder) [SNOMED CT concept]
- Hereditary nonpolyposis colorectal cancer [PASCAL descriptor]
- hereditary nonpolyposis colorectal cancer [Disease (Nov.)]
- hereditary nonpolyposis colorectal cancer [MeSH concept]
associated_with_malfunction_of_gene_product
- DNA Mismatch Repair Protein Mlh1 [NCIt concept]
- DNA Mismatch Repair Protein Mlh3 [NCIt concept]
- DNA Mismatch Repair Protein Msh2 [NCIt concept]
- DNA Mismatch Repair Protein Msh6 [NCIt concept]
- Mismatch Repair Endonuclease PMS2 [NCIt concept]
- PMS1 Protein Homolog 1 [NCIt concept]
- TGF-Beta Receptor Type-2 [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Pancreatic Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Medical History Table [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_associated_disease
- Colorectal Carcinoma [NCIt concept]
disease_has_associated_gene
- MLH3 Gene [NCIt concept]
- MLH3 wt Allele [NCIt concept]
- TGFBR2 Gene [NCIt concept]
- TGFBR2 wt Allele [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- No Evidence of Gastrointestinal Polyps Present [NCIt concept]
disease_mapped_to_gene
- MSH6 Gene [NCIt concept]
- PMS1 Gene [NCIt concept]
- PMS2 Gene [NCIt concept]
disease_may_have_associated_disease
- Endometrial Carcinoma [NCIt concept]
- Gastric Intestinal-Type Adenocarcinoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
- Renal Pelvis Carcinoma [NCIt concept]
- Small Intestinal Carcinoma [NCIt concept]
- Ureter Carcinoma [NCIt concept]
disease_may_have_molecular_abnormality
- High-Frequency Microsatellite Instability [NCIt concept]
- Inactivating MSH6 Gene Mutation [NCIt concept]
- Inactivating PMS2 Gene Mutation [NCIt concept]
- PMS1 Gene Inactivation [NCIt concept]
may_be_associated_disease_of_disease
- Hereditary Colon Carcinoma [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
pathogenesis_of_disease_involves_gene
- MSH6 Gene [NCIt concept]
- MSH6 wt Allele [NCIt concept]
- PMS1 Gene [NCIt concept]
- PMS1 wt Allele [NCIt concept]
- PMS2 Gene [NCIt concept]
- PMS2 wt Allele [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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