716277000: Chronic diarrhea due to glucoamylase deficiency (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Diarrhea\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Chronic diarrhea due to glucoamylase deficiency (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Chronic diarrhea due to glucoamylase deficiency (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\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Gastrointestinal complication\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)
\Disease\Chronic disease\Chronic digestive system disorder\Chronic diarrhea\Chronic diarrhea of infants AND/OR young children\Chronic diarrhea due to glucoamylase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303306013 Chronic diarrhea due to glucoamylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305365013 Chronic diarrhea due to glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305366014 Chronic diarrhoea due to glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305367017 Maltase glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5401289014 A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401290017 A rare intestinal disease characterised by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhoea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chronic diarrhea due to glucoamylase deficiency (disorder)	Due to	Deficiency of glucan 1,4-alpha-glucosidase	true	Inferred relationship	Some	5
Chronic diarrhea due to glucoamylase deficiency (disorder)	Is a	Chronic diarrhea of infants AND/OR young children	true	Inferred relationship	Some
Chronic diarrhea due to glucoamylase deficiency (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Chronic diarrhea due to glucoamylase deficiency (disorder)	Clinical course	Chronic	true	Inferred relationship	Some	3
Chronic diarrhea due to glucoamylase deficiency (disorder)	Has definitional manifestation	Diarrhea	false	Inferred relationship	Some
Chronic diarrhea due to glucoamylase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Chronic diarrhea due to glucoamylase deficiency (disorder)	Finding site	Gastrointestinal tract structure	false	Inferred relationship	Some	4
Chronic diarrhea due to glucoamylase deficiency (disorder)	Has interpretation	Altered	false	Inferred relationship	Some	2
Chronic diarrhea due to glucoamylase deficiency (disorder)	Interprets	Bowel action	false	Inferred relationship	Some	2
Chronic diarrhea due to glucoamylase deficiency (disorder)	Finding site	Intestinal structure	true	Inferred relationship	Some	1
Chronic diarrhea due to glucoamylase deficiency (disorder)	Interprets	Digestive system function	false	Inferred relationship	Some	6
Chronic diarrhea due to glucoamylase deficiency (disorder)	Is a	Gastrointestinal complication	true	Inferred relationship	Some
Chronic diarrhea due to glucoamylase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chronic diarrhea due to glucoamylase deficiency (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303306013	Chronic diarrhea due to glucoamylase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305365013	Chronic diarrhea due to glucoamylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305366014	Chronic diarrhoea due to glucoamylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305367017	Maltase glucoamylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401289014	A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401290017	A rare intestinal disease characterised by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhoea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core