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773579007: Congenital chronic diarrhea with protein-losing enteropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3724272019 Congenital chronic diarrhea with protein-losing enteropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724273012 Congenital chronic diarrhea with exudative enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724274018 Congenital chronic diarrhoea with protein-losing enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724275017 Congenital chronic diarrhea with protein-losing enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724276016 Congenital chronic diarrhoea with exudative enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724841010 A rare genetic intestinal disease characterised by early-onset chronic non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy, which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724842015 A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724272019 Congenital chronic diarrhea with protein-losing enteropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724273012 Congenital chronic diarrhea with exudative enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724274018 Congenital chronic diarrhoea with protein-losing enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724275017 Congenital chronic diarrhea with protein-losing enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724276016 Congenital chronic diarrhoea with exudative enteropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724841010 A rare genetic intestinal disease characterised by early-onset chronic non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy, which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724842015 A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3389601001000117 Kongenitale chronische Diarrhoe mit Protein-Verlust-Enteropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
999501000172115 diarrhée chronique congénitale avec perte de protéines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1016191000172116 diarrhée chronique congénitale avec entéropathie exsudative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
999501000172115 diarrhée chronique congénitale avec perte de protéines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1016191000172116 diarrhée chronique congénitale avec entéropathie exsudative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389601001000117 Kongenitale chronische Diarrhoe mit Protein-Verlust-Enteropathie 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
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Interprets Bowel action true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Has interpretation Altered (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a Chronic diarrhea of infants AND/OR young children (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a Protein-losing enteropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Finding site Structure of small intestine (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Interprets Digestive system function false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a Diarrheal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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