Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4696546011 | Familial chylomicronemia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 4696547019 | Familial chylomicronemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 4696550016 | A rare genetic hyperlipidaemia characterised by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhoea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| 4696551017 | A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial chylomicronemia syndrome (disorder) | Is a | Hyperlipidaemia | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 | |
| Familial chylomicronemia syndrome (disorder) | Interprets | Lipids measurement | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hyperlipoproteinemia, type I | Is a | True | Familial chylomicronemia syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR