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 |
| 3760109014 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760110016 | Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3760111017 | Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3760112012 | Hyperinsulinemic hypoglycaemia due to SUR1 deficiency, diazoxide-resistant focal form | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760113019 | Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760114013 | A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3760115014 | A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycaemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4353641000052119 | diazoxidresistent fokal hyperinsulinism orsakad av SUR1-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 |
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | 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