785727000: Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (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 infantile diarrhoea due to guanylate cyclase 2C overactivity

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity

\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\Disease\Disorder of body system\Disorder of digestive system\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\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 infantile diarrhoea due to guanylate cyclase 2C overactivity
\Disease\Chronic disease\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3768173010 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3768174016 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity en Synonym Active Initial character case insensitive SNOMED CT core

3768175015 Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity en Synonym Active Initial character case insensitive SNOMED CT core

3768176019 A rare genetic intestinal disease with characteristics of early-onset chronic diarrhoea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and oesophagitis (with or without oesophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. en Definition Active Case sensitive SNOMED CT core

3768177011 A rare genetic intestinal disease with characteristics of early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Interprets	Bowel action	true	Inferred relationship	Some	1
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Is a	Chronic diarrhoea of infants AND/OR young children	true	Inferred relationship	Some
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Has interpretation	Altered	true	Inferred relationship	Some	1
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Clinical course	Chronic	true	Inferred relationship	Some	2
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Finding site	Intestinal structure	true	Inferred relationship	Some	3
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	Interprets	Digestive system function	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3768173010	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3768174016	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3768175015	Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3768176019	A rare genetic intestinal disease with characteristics of early-onset chronic diarrhoea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and oesophagitis (with or without oesophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12.	en	Definition	Active	Case sensitive	SNOMED CT core
3768177011	A rare genetic intestinal disease with characteristics of early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12.	en	Definition	Active	Case sensitive	SNOMED CT core