Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3324733011 | Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3324734017 | Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3324735016 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3324736015 | A mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. Less than 10 cases have been reported to date. The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinemic hypoglycemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. The mode of inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324737012 | A mitochondrial fatty acid oxidation disorder characterised by hyperinsulinaemic hypoglycaemia with seizures, and in one case fulminant hepatic failure. Less than 10 cases have been reported to date. The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinaemic hypoglycaemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. The mode of inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Due to | Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | true | Inferred relationship | Some | 2 | |
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Hyperinsulinism | true | Inferred relationship | Some | ||
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Finding site | Endocrine pancreatic structure | false | Inferred relationship | Some | ||
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | 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