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 |
| 3308278014 | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308279018 | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308280015 | Hyperinsulinism due to HNF4A deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3308281016 | A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308282011 | A form of diazoxide-sensitive diffuse hyperinsulinism characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycaemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3863351000052119 | hyperinsulinism orsakad av HNF4A-brist | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Finding site | Endocrine pancreatic structure | false | Inferred relationship | Some | ||
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR