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 |
| 1016191000172116 | diarrhée chronique congénitale avec entéropathie exsudative | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 771651000241112 | diarrhée chronique congénitale avec entéropathie exsudative (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 999501000172115 | diarrhée chronique congénitale avec perte de protéines | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| diarrhée chronique congénitale avec entéropathie exsudative | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| diarrhée chronique congénitale avec entéropathie exsudative | interprète (attribut) | Bowel action | true | Inferred relationship | Some | 2 | |
| diarrhée chronique congénitale avec entéropathie exsudative | évolution clinique (attribut) | chronique | true | Inferred relationship | Some | 3 | |
| diarrhée chronique congénitale avec entéropathie exsudative | a pour interprétation (attribut) | Altered | true | Inferred relationship | Some | 2 | |
| diarrhée chronique congénitale avec entéropathie exsudative | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| diarrhée chronique congénitale avec entéropathie exsudative | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| diarrhée chronique congénitale avec entéropathie exsudative | est un(e) (attribut) | Chronic diarrhoea of infants AND/OR young children | true | Inferred relationship | Some | ||
| diarrhée chronique congénitale avec entéropathie exsudative | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| diarrhée chronique congénitale avec entéropathie exsudative | est un(e) (attribut) | Protein-losing enteropathy | true | Inferred relationship | Some | ||
| diarrhée chronique congénitale avec entéropathie exsudative | localisation d'une constatation (attribut) | Structure of small intestine (body structure) | true | Inferred relationship | Some | 1 | |
| diarrhée chronique congénitale avec entéropathie exsudative | interprète (attribut) | Digestive system function (observable entity) | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR