1156815009: Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)

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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)

\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)

\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Mass of digestive structure\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Mass of digestive structure\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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 intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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 intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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 intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Mass of trunk\Abdominal mass\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Mass of trunk\Abdominal mass\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)

\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Mass of body structure\Mass of body region\Mass of trunk\Abdominal mass\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Mass of body structure\Mass of digestive structure\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Mass of body structure\Mass of digestive structure\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Polyp (disorder)\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Polyp (disorder)\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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 intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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 intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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 intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\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\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Polyp of intestine\Intestinal polyposis syndrome\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Disorder of large intestine\Polyp of large intestine (disorder)\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4576252015 Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4576253013 Familial adenomatous polyposis due to 5q22.2 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12143891000172115 polypose adénomateuse familiale due à une microdélétion 5q22.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12143901000172116 PAF (polypose adénomateuse familiale) due à une microdélétion 5q22.2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4851411000172112 familiaire adenomateuze polyposis door microdeletie van chromosoom 5q22.2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4851421000172119 FAP door microdeletie van chromosoom 5q22.2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

14601191000172110 familiale adenomateuze polyposis door microdeletie van chromosoom 5q22.2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)	Due to	5q22.2 deletion syndrome	true	Inferred relationship	Some	2
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)	Associated morphology	Multiple polyps	true	Inferred relationship	Some	1
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)	Is a	Familial multiple polyposis syndrome	true	Inferred relationship	Some
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)	Finding site	Structure of large intestine (body structure)	true	Inferred relationship	Some	1
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)	Is a	Gastrointestinal complication	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets