Сімейні аномалії тромбомодуліну
ORPHA:3324· ICD-10 D68.8· Familial thrombomodulin anomalies
Визначення(English summary)
A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.