Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
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) | SNOMED CT core |
| 4696547019 | Familial chylomicronemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 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) | SNOMED CT core |
| 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) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial chylomicronemia syndrome (disorder) | Is a | Familial disease | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | Is a | Chylomicronemia syndrome (disorder) | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | Interprets | Lipids measurement | true | Inferred relationship | Some | 1 | |
| Familial chylomicronemia syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Familial apolipoprotein C-II deficiency | Is a | True | Familial chylomicronemia syndrome (disorder) | Inferred relationship | Some | |
| Hyperlipoproteinemia, type I | Is a | True | Familial chylomicronemia syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR