72900001: familiaire adenomateuze polyposis (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...

\Finding of large intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome

\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of large intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Mass of digestive structure\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Mass of digestive structure\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of lower gastrointestinal tract (disorder)\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal mass\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal mass\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of large intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Mass of trunk\Abdominal mass\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Mass of trunk\Abdominal mass\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of lower gastrointestinal tract (disorder)\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome

\Mass of body structure\Mass of body region\Mass of trunk\Abdominal mass\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Mass of body structure\Mass of body region\Mass of trunk\Abdominal mass\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Mass of body structure\Mass of digestive structure\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Mass of body structure\Mass of digestive structure\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Familial multiple polyposis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome
\Disease\Polyp (disorder)\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Polyp (disorder)\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of lower gastrointestinal tract (disorder)\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

121087019 Familial multiple polyposis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

200309013 Familial adenomatous polyposis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

502278019 FPC - Familial polyposis coli en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

502279010 Polyposis coli en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

502280013 FAP - Familial adenomatous polyposis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

502281012 Adenomatous polyposis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

502282017 Adenomatous polyposis coli en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

502283010 APC - Adenomatous polyposis coli en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

502284016 Familial polyposis coli en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

813228015 Familial multiple polyposis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

84581000146114 familiaire polyposis coli nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1755771000146112 familiaire adenomateuze poliepose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1755781000146114 FAP nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12577561000146115 familiaire adenomateuze polyposis (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12577571000146114 familiaire adenomateuze polyposis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13043101000146111 polyposis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7583581000146110 Familiaire adenomateuze polyposis (FAP) is een erfelijke aandoening veroorzaakt door een fout in het APC-gen waarbij, vanaf jeugdige leeftijd, in het slijmvlies van de dikke darm en de endeldarm honderden tot duizenden goedaardige gezwellen (poliepen of adenomen) ontstaan. Dit kan uiteindelijk leiden tot dikkedarmkanker. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13095141000146115 Een erfelijke ziekte waardoor er veel poliepen in de darm ontstaan. Mensen met FAP hebben een grote kans om darmkanker te krijgen. 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
Familial multiple polyposis syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	Intestinal polyposis syndrome	true	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	Disorder of large intestine	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	Familial disease	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Finding site	Structure of large intestine (body structure)	false	Inferred relationship	Some	2
Familial multiple polyposis syndrome	Associated morphology	Multiple polyps	false	Inferred relationship	Some	2
Familial multiple polyposis syndrome	Finding site	Intestinal structure	false	Inferred relationship	Some	1
Familial multiple polyposis syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	Familial multiple tumor syndrome	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	Polyp of large intestine (disorder)	true	Inferred relationship	Some
Familial multiple polyposis syndrome	Associated morphology	Neoplasm	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Finding site	Skin structure	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Familial multiple polyposis syndrome	Associated morphology	Multiple polyps	true	Inferred relationship	Some	1
Familial multiple polyposis syndrome	Finding site	Structure of large intestine (body structure)	true	Inferred relationship	Some	1
Familial multiple polyposis syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gardner syndrome	Is a	True	Familial multiple polyposis syndrome	Inferred relationship	Some
Turcot syndrome	Is a	True	Familial multiple polyposis syndrome	Inferred relationship	Some
Family history of familial multiple polyposis syndrome (situation)	Associated finding	True	Familial multiple polyposis syndrome	Inferred relationship	Some	1
Attenuated familial adenomatous polyposis (disorder)	Is a	True	Familial multiple polyposis syndrome	Inferred relationship	Some
Hyperplastic polyposis syndrome	Is a	True	Familial multiple polyposis syndrome	Inferred relationship	Some
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)	Is a	True	Familial multiple polyposis syndrome	Inferred relationship	Some
Malignant neoplasm of intestine due to familial adenomatous polyposis (disorder)	Due to	True	Familial multiple polyposis syndrome	Inferred relationship	Some	2
Hyperplastic polyposis coli syndrome	Is a	False	Familial multiple polyposis syndrome	Inferred relationship	Some
Suspected familial multiple polyposis syndrome (situation)	Associated finding	True	Familial multiple polyposis syndrome	Inferred relationship	Some	1

Reference Sets

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

Dutch pathology simple reference set (foundation metadata concept)