734019006: Chronic diarrhea with villous atrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Mucosal finding\...

\Mucous membrane hyperplasia\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

\Disorder of mucous membrane\Disorder of gastrointestinal tract mucous membrane\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

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

\Finding of small intestine\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea with villous atrophy syndrome
\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Finding of small intestine\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Diarrhoeal disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea with villous atrophy syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of gastrointestinal tract mucous membrane\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea with villous atrophy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of gastrointestinal tract mucous membrane\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

\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 with villous atrophy syndrome
\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\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of small intestine\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of soft tissue of trunk\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of trunk\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

\Disease\Genetic disease\Chronic diarrhoea with villous atrophy syndrome
\Disease\Disorder of body system\Disorder of mucous membrane\Disorder of gastrointestinal tract mucous membrane\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of gastrointestinal tract mucous membrane\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\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 with villous atrophy syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of small intestine\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\Disease\Disorder of trunk\Disorder of soft tissue of trunk\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Chronic diarrhoea with villous atrophy syndrome
\Disease\Metabolic disease\Chronic metabolic disorder\Chronic diarrhoea with villous atrophy syndrome
\Disease\Chronic disease\Chronic metabolic disorder\Chronic diarrhoea with villous atrophy syndrome
\Disease\Chronic disease\Chronic digestive system disorder\Chronic diarrhoea\Chronic diarrhoea of infants AND/OR young children\Chronic diarrhoea with villous atrophy syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Villous atrophy of intestine\Chronic diarrhoea with villous atrophy syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3481907019 Chronic diarrhea with villous atrophy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3481910014 Chronic diarrhea with villous atrophy syndrome en Synonym Active Case insensitive SNOMED CT core

3481911013 Chronic diarrhoea with villous atrophy syndrome en Synonym Active Case insensitive SNOMED CT core

3481908012 A rare genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. en Definition Active Case sensitive SNOMED CT core

3481909016 A rare genetic gastroenterological disease characterised by the early onset of chronic diarrhoea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhoea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chronic diarrhoea with villous atrophy syndrome	Interprets	Digestive system function	false	Inferred relationship	Some	1
Chronic diarrhoea with villous atrophy syndrome	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Is a	Chronic diarrhoea of infants AND/OR young children	true	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Is a	Villous atrophy of intestine	true	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Is a	Mitochondrial respiratory chain complexes disorder	false	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Clinical course	Chronic	true	Inferred relationship	Some	3
Chronic diarrhoea with villous atrophy syndrome	Has definitional manifestation	Diarrhoea	false	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Associated morphology	Hyperplasia	true	Inferred relationship	Some	4
Chronic diarrhoea with villous atrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Chronic diarrhoea with villous atrophy syndrome	Finding site	Intestinal villus	true	Inferred relationship	Some	4
Chronic diarrhoea with villous atrophy syndrome	Interprets	Bowel action	true	Inferred relationship	Some	2
Chronic diarrhoea with villous atrophy syndrome	Has interpretation	Altered	true	Inferred relationship	Some	2

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
3481907019	Chronic diarrhea with villous atrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3481910014	Chronic diarrhea with villous atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3481911013	Chronic diarrhoea with villous atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3481908012	A rare genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.	en	Definition	Active	Case sensitive	SNOMED CT core
3481909016	A rare genetic gastroenterological disease characterised by the early onset of chronic diarrhoea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhoea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.	en	Definition	Active	Case sensitive	SNOMED CT core