Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3760281019 | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3760282014 | Autosomal recessive hyperinsulinism due to SUR1 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3760283016 | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3760284010 | Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3760285011 | Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3760286012 | A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3760287015 | A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive hyperinsulinism due to SUR1 deficiency | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to SUR1 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyperinsulinism due to SUR1 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to SUR1 deficiency | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to SUR1 deficiency | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to SUR1 deficiency | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyperinsulinism due to SUR1 deficiency | Is a | Congenital disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR