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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.