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Familial thrombomodulin anomalies

Disease definition

Familial thrombomodulin anomalies is 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.

ORPHA:3324

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: D68.8
  • OMIM: -
  • UMLS: C2931365
  • MeSH: C536900
  • GARD: 5195
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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