716277000: Chronic diarrhea due to glucoamylase deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Bowel finding\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Gastrointestinal complication\Chronic diarrhoea due to glucoamylase deficiency
\Digestive system finding\Finding of defaecation\Finding of bowel action\Altered bowel function\Diarrhoea\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Gastrointestinal complication\Chronic diarrhoea due to glucoamylase deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency

\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\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency

\Disease\Disorder of body system\Disorder of digestive system\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Gastrointestinal complication\Chronic diarrhoea due to glucoamylase deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency
\Disease\Congenital disease\Chronic diarrhoea due to glucoamylase deficiency
\Disease\Chronic disease\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea due to glucoamylase deficiency

Status: current, Defined. 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 Case insensitive SNOMED CT core

3305365013 Chronic diarrhea due to glucoamylase deficiency en Synonym Active Case insensitive SNOMED CT core

3305366014 Chronic diarrhoea due to glucoamylase deficiency en Synonym Active Case insensitive SNOMED CT core

3305367017 Maltase glucoamylase deficiency en Synonym Active Case insensitive SNOMED CT core

3305368010 This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. en Definition Active Case sensitive SNOMED CT core

3305369019 This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health indicator for intervention reference set

Queensland allied health assessment reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303306013	Chronic diarrhea due to glucoamylase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305365013	Chronic diarrhea due to glucoamylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3305366014	Chronic diarrhoea due to glucoamylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3305367017	Maltase glucoamylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3305368010	This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet.	en	Definition	Active	Case sensitive	SNOMED CT core
3305369019	This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet.	en	Definition	Active	Case sensitive	SNOMED CT core