| primaire cardiomyovasculopathie met depositie van triglyceriden (aandoening) | | primaire cardiomyovasculopathie met depositie van triglyceriden | | primaire cardiomyovasculopathie met afzetting van triacylglycerol
| | Primary triglyceride deposit cardiomyovasculopathy | | Neutral lipid storage disease with severe cardiovascular involvement
| | A rare inborn error of metabolism with characteristics of massive accumulation of triglycerides in the myocardium and coronary arteries while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed. |
| | Id | 1279844009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 565612 |
| SNOMED CT to ICD-10 extended map | | Target | E75.5 | | Rule | TRUE | | Advice | ALWAYS E75.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
