716318002: Lynch-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\Lynch syndrome (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Lynch syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305504010 Lynch syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305505011 Lynch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6362351000146116 syndroom van Lynch nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6362401000146114 Lynch-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9439371000146112 Lynch-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3533539017 Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but who have not met the criteria for hereditary nonpolyposis colon cancer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13042781000146111 Een erfelijke ziekte waardoor de kans op darmkanker groter is. Vrouwen met Lynch hebben ook een grotere kans op baarmoederkanker. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lynch syndrome (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Lynch syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary nonpolyposis colon cancer caused by MSH2 mutation (disorder)	Is a	True	Lynch syndrome (disorder)	Inferred relationship	Some
Hereditary nonpolyposis colon cancer caused by MLH1 mutation (disorder)	Is a	True	Lynch syndrome (disorder)	Inferred relationship	Some
Hereditary nonpolyposis colon cancer caused by EPCAM mutation	Is a	True	Lynch syndrome (disorder)	Inferred relationship	Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)