Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3326710012 | Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3326711011 | Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331831014 | Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331832019 | Enteric anendocrinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331833012 | An exceedingly rare genetic gastroenterological disease characterized by severe malabsorption diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331834018 | An exceedingly rare genetic gastroenterological disease characterised by severe malabsorption diarrhoea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhoea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | interprète (attribut) | Digestive system function (observable entity) | false | Inferred relationship | Some | 5 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | est un(e) (attribut) | Chronic diarrhoea of infants AND/OR young children | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | est un(e) (attribut) | syndrome de malabsorption | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | évolution clinique (attribut) | chronique | true | Inferred relationship | Some | 4 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | est défini par la manifestation de (attribut) | Diarrhea | false | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | localisation d'une constatation (attribut) | structure du tractus gastro-intestinal | true | Inferred relationship | Some | 3 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | localisation d'une constatation (attribut) | intestins | true | Inferred relationship | Some | 1 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | interprète (attribut) | Bowel action | true | Inferred relationship | Some | 2 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | a pour interprétation (attribut) | Altered | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR