Familial thrombomodulin anomalies

Definition

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.

Disease data

Classification

Disease

ORPHA code

3324

OMIM code

ICD10 code

D68.8

ICD11 code

3B61.0Y

*Soruce