Status: current, 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 |
| 3308608019 | Hyperinsulinism due to deficiency of glucokinase (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308609010 | Hyperinsulinism due to deficiency of glucokinase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308610017 | Hyperinsulinism due to glucokinase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308611018 | A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308612013 | A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401495013 | A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401496014 | A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterised by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycaemia) and recurrent episodes of hypoglycaemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Due to | Deficiency of glucokinase | true | Inferred relationship | Some | 2 | |
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Finding site | Endocrine pancreatic structure | false | Inferred relationship | Some | ||
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Hyperinsulinism due to deficiency of glucokinase (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to deficiency of glucokinase (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