Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304054016 | Hyperinsulinism and hyperammonemia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3304055015 | Hyperinsulinism and hyperammonemia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3304056019 | Hyperinsulinism and hyperammonaemia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3311195011 | A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. | en | Definition | Active | Case sensitive | SNOMED CT core |
3311196012 | A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hyperinsulinism and hyperammonaemia syndrome | Is a | Congenital disease | true | Inferred relationship | Some | ||
Hyperinsulinism and hyperammonaemia syndrome | Is a | Hyperammonaemia | true | Inferred relationship | Some | ||
Hyperinsulinism and hyperammonaemia syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hyperinsulinism and hyperammonaemia syndrome | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
Hyperinsulinism and hyperammonaemia syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
Hyperinsulinism and hyperammonaemia syndrome | Finding site | Endocrine pancreatic structure | false | Inferred relationship | Some | ||
Hyperinsulinism and hyperammonaemia syndrome | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Hyperinsulinism and hyperammonaemia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hyperinsulinism and hyperammonaemia syndrome | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set