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734019006: Chronic diarrhea with villous atrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3481910014 Chronic diarrhea with villous atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481911013 Chronic diarrhoea with villous atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403861014 Chronic diarrhea with villous atrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403862019 Chronic diarrhoea with villous atrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3481907019 Chronic diarrhea with villous atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481910014 Chronic diarrhea with villous atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481911013 Chronic diarrhoea with villous atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403861014 Chronic diarrhea with villous atrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403862019 Chronic diarrhoea with villous atrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3443711001000114 Diarrhoe, chronische mit Zottenatrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5796911000241117 syndrome de diarrhée chronique avec atrophie villositaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5796911000241117 syndrome de diarrhée chronique avec atrophie villositaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443711001000114 Diarrhoe, chronische mit Zottenatrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Chronic diarrhea of infants AND/OR young children (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Villous atrophy of intestine (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Disorder of mitochondrial respiratory chain complexes (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chronic diarrhea with villous atrophy syndrome (disorder) Has definitional manifestation Diarrhea false Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Associated morphology Hyperplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chronic diarrhea with villous atrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Chronic diarrhea with villous atrophy syndrome (disorder) Finding site Intestinal villus true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chronic diarrhea with villous atrophy syndrome (disorder) Interprets Bowel action true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic diarrhea with villous atrophy syndrome (disorder) Has interpretation Altered (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic diarrhea with villous atrophy syndrome (disorder) Interprets Digestive system function false Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a Diarrheal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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