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) | est un(e) (attribut) | Familial disease | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | est un(e) (attribut) | Chylomicronemia syndrome (disorder) | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial chylomicronemia syndrome (disorder) | interprète (attribut) | Lipids measurement | true | Inferred relationship | Some | 1 | |
| Familial chylomicronemia syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| déficit familial en apolipoprotéine C-II (trouble) | est un(e) (attribut) | True | Familial chylomicronemia syndrome (disorder) | Inferred relationship | Some | |
| Hyperlipoproteinemia, type I | est un(e) (attribut) | True | Familial chylomicronemia syndrome (disorder) | Inferred relationship | Some |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR