Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3760288013 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3760289017 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3760290014 | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3760291013 | Autosomal recessive hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3760292018 | 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 Kir6.2 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. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3760293011 | 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 Kir6.2 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. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive hyperinsulinism due to Kir6.2 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