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 |