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 |
| 5402917014 | A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402918016 | A very rare genetic gastroenterological disease characterised by severe malabsorptive diarrhoea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhoea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with coeliac disease have been reported. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR