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 |
| 3760116010 | Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760117018 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760118011 | Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760119015 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760120014 | 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 Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, 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 mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3760121013 | 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 Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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 mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR