Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3768173010 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3768174016 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3768175015 | Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3768176019 | A rare genetic intestinal disease with characteristics of early-onset chronic diarrhoea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and oesophagitis (with or without oesophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3768177011 | A rare genetic intestinal disease with characteristics of early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Interprets | Bowel action | true | Inferred relationship | Some | 1 | |
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Is a | Chronic diarrhea of infants AND/OR young children | true | Inferred relationship | Some | ||
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Has interpretation | Altered | true | Inferred relationship | Some | 1 | |
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 2 | |
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Finding site | Intestinal structure | true | Inferred relationship | Some | 3 | |
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Interprets | Digestive system function | false | Inferred relationship | Some | 4 | |
| Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Is a | Diarrheal disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR