1187194006: Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...
• \Finding of small intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of small intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal ulcer\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal ulcer\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \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 small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of small intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Ulcer (disorder)\Gastrointestinal ulcer\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Chronic digestive system disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \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 small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal ulcer\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Disorder of small intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Ulceration of intestine\Ulceration of small intestine\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
• \Disease\Chronic disease\Chronic digestive system disorder\A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4670328019	A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4670329010	A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4670330017	Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670331018	Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670332013	Chronic enteropathy associated with SLCO2A1 gene	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5789681000241112	entéropathie chronique associée au gène des transporteurs d'anions organiques porteur de soluté de la famille 2A1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789691000241114	entéropathie chronique associée au gène SLCO2A1 (solute carrier organic anion transporter family member 2A1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408191001000115	Enteropathie, chronische, SLCO2A1-Gen-assoziierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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