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

SNOMED CT Concept\Clinical finding\...

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

\Finding of large intestine\Disorder of large intestine\Polyp of large intestine\Familial multiple polyposis syndrome\Familial adenomatous polyposis due to 5q22.2 microdeletion

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

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

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

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

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

Status: current, Defined. 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 Case insensitive SNOMED CT core

4576253013 Familial adenomatous polyposis due to 5q22.2 microdeletion en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set