Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3326711011 | Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3331831014 | Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3331832019 | Enteric anendocrinosis | en | Synonym | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Interprets | Digestive system function | false | Inferred relationship | Some | 5 | |
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Is a | Chronic diarrhoea of infants AND/OR young children | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Is a | Malabsorption syndrome | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Is a | Congenital disease | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Clinical course | Chronic | true | Inferred relationship | Some | 4 | |
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Has definitional manifestation | Diarrhoea | false | Inferred relationship | Some | ||
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Finding site | Gastrointestinal tract structure | true | Inferred relationship | Some | 3 | |
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Finding site | Intestinal structure | true | Inferred relationship | Some | 1 | |
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Interprets | Bowel action | true | Inferred relationship | Some | 2 | |
| Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells | Has interpretation | Altered | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health indicator for intervention reference set
Queensland allied health assessment reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR