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) | Is a | Chronic diarrhea of infants AND/OR young children | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Is a | Malabsorption syndrome | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 4 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Has definitional manifestation | Diarrhea | false | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Finding site | Gastrointestinal tract structure | true | Inferred relationship | Some | 3 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Finding site | Intestinal structure | true | Inferred relationship | Some | 1 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Interprets | Bowel action | false | Inferred relationship | Some | 2 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Has interpretation | Altered | false | Inferred relationship | Some | 2 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Interprets | Digestive system function | false | Inferred relationship | Some | 5 | |
| Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR