SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Lynch syndrome

Synonyms

Lynch syndrome (disorder)

Definitions

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.

ID

http://purl.bioontology.org/ontology/SNOMEDCT/716318002

Active

1

altLabel

Lynch syndrome (disorder)

CASE SIGNIFICANCE ID

900000000000017005

CTV3ID

XUtd9

cui

C4552100

definition

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.

Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but have not met criterial for hereditary nonpolyposis colon cancer.

DEFINITION STATUS ID

900000000000074008

Effective time

20160731

notation

716318002

prefLabel

Lynch syndrome

Subset member

447562003~MAPADVICE~ALWAYS Z80.9

447562003~MAPRULE~TRUE

6011000124106~MAPTARGET~Z15.09

6011000124106~MAPGROUP~1

900000000000497000~MAPTARGET~XUtd9

447562003~MAPGROUP~1

6011000124106~MAPADVICE~ALWAYS Z15.09 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

447562003~MAPTARGET~Z80.9

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/699346009

http://purl.bioontology.org/ontology/SNOMEDCT/11164009

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10051981 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10051981 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/716318002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10051981 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D003123 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D003123 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0005835 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_144 ORDO LOOM
http://purl.jp/bio/4/id/200906009652777663 IOBC LOOM
http://www.gamuts.net/entity#Lynch_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/DERMO_0003425 DERMO LOOM
http://purl.obolibrary.org/obo/NCIT_C8494 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8494 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051981 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0005835 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0005835 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0005835 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3883 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_3883 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3883 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3883 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3883 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3883 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3883 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Non-Polyposis_Colon_Cancer CSEO LOOM
http://www.gamuts.net/entity#Lynch_syndrome GAMUTS REST