Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308264013 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3308265014 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3308266010 | A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308267018 | A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 887141000172110 | hyperinsulinisme autosomique dominant par déficit en Kir6.2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 917021000172112 | hypoglycémie hyperinsulinémique autosomique dominant par déficit en Kir6.2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Finding site | Endocrine pancreatic structure | false | Inferred relationship | Some | ||
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR