773579007: Congenital chronic diarrhea with protein-losing enteropathy (disorder)

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

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

\Finding of small intestine\Disorder of small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)

\Disorder of intestine\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of small intestine\Disorder of small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of lower gastrointestinal tract (disorder)\Disorder of intestine\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Finding of defecation\Finding of bowel action\Altered bowel function\Diarrhea\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (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\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\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\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (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\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (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\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Disorder of small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (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\Diarrheal disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (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 small intestine\Protein-losing enteropathy\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Congenital disease (disorder)\Congenital chronic diarrhea with protein-losing enteropathy (disorder)
\Disease\Chronic disease\Chronic digestive system disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Congenital chronic diarrhea with protein-losing enteropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724272019 Congenital chronic diarrhea with protein-losing enteropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724273012 Congenital chronic diarrhea with exudative enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724274018 Congenital chronic diarrhoea with protein-losing enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724275017 Congenital chronic diarrhea with protein-losing enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724276016 Congenital chronic diarrhoea with exudative enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724841010 A rare genetic intestinal disease characterised by early-onset chronic non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy, which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3724842015 A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4212611000052110 medfödd kronisk diarré med enteropati med proteinförlust sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Interprets	Bowel action	true	Inferred relationship	Some	2
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Clinical course	Chronic	true	Inferred relationship	Some	3
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Has interpretation	Altered	true	Inferred relationship	Some	2
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Is a	Chronic diarrhea of infants AND/OR young children	true	Inferred relationship	Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Is a	Protein-losing enteropathy	true	Inferred relationship	Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Finding site	Structure of small intestine (body structure)	true	Inferred relationship	Some	1
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Interprets	Digestive system function	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3724272019	Congenital chronic diarrhea with protein-losing enteropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724273012	Congenital chronic diarrhea with exudative enteropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724274018	Congenital chronic diarrhoea with protein-losing enteropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724275017	Congenital chronic diarrhea with protein-losing enteropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724276016	Congenital chronic diarrhoea with exudative enteropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724841010	A rare genetic intestinal disease characterised by early-onset chronic non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy, which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724842015	A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4212611000052110	medfödd kronisk diarré med enteropati med proteinförlust	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)