Preferred Name |
HNPCC - hereditary nonpolyposis colon cancer |
|
Synonyms |
Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer (disorder) |
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Definitions |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. |
|
ID |
http://purl.bioontology.org/ontology/SNOMEDCT/315058005 |
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Active |
1 |
|
altLabel |
Hereditary nonpolyposis colon cancer HNPCC - hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colon cancer (disorder) |
|
Associated finding of |
http://purl.bioontology.org/ontology/SNOMEDCT/1098871000119109 |
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CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
CTV3ID |
XaFsw |
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cui |
C1333990 |
|
definition |
Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. |
|
DEFINITION STATUS ID |
900000000000074008 |
|
Effective time |
20020131 |
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Has associated morphology | ||
Has finding site | ||
Has pathological process | ||
INACTIVATION INDICATOR |
900000000000483008 |
|
notation |
315058005 |
|
prefLabel |
HNPCC - hereditary nonpolyposis colon cancer |
|
Subset member |
447562003~MAPTARGET~C18.9 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 716654007 | Non-polyposis Turcot syndrome (disorder) | 6011000124106~MAPADVICE~IF NON-POLYPOSIS TURCOT SYNDROME CHOOSE C72.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS C18.9 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE 6011000124106~MAPTARGET~C18.9 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~C72.9 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000497000~MAPTARGET~XaFsw 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPADVICE~ALWAYS C18.9 6011000124106~MAPCATEGORYID~447639009 900000000000490003~VALUEID~900000000000483008 6011000124106~MAPPRIORITY~1 6011000124106~MAPRULE~IFA 716654007 | Non-polyposis Turcot syndrome | 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
tui |
T191 |
|
Type ID |
900000000000003001 900000000000013009 |
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subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/699346009 http://purl.bioontology.org/ontology/SNOMEDCT/93761005 |