SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

HNPCC - hereditary nonpolyposis colon cancer

Synonyms

Hereditary nonpolyposis colon cancer

Hereditary nonpolyposis colon cancer (disorder)

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

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

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005

CTV3ID

XaFsw

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

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/1240414004

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/71854001

Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/1234914003

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

subClassOf

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

http://purl.bioontology.org/ontology/SNOMEDCT/93761005

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

http://purl.bioontology.org/ontology/SNOMEDCT/363080007

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