Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3725580018 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725581019 | Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725582014 | Hypoinsulinemic hypoglycaemia and body hemihypertrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725583016 | A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725584010 | A rare genetic endocrine disease characterised by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinaemic (or hypo ketotic hypo-fatty-acidaemic) hypoglycaemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Finding site | Endocrine pancreatic structure | true | Inferred relationship | Some | 1 | |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Is a | Neonatal hypoglycemia | true | Inferred relationship | Some | ||
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Is a | Neonatal disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Is a | Hypoinsulinism (disorder) | true | Inferred relationship | Some | ||
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Occurrence | Neonatal | true | Inferred relationship | Some | 1 | |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some | ||
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Interprets | Blood glucose concentration | true | Inferred relationship | Some | 2 | |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets