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Вроджений дефіцит фактора XII

ORPHA:330· ICD-10 D68.2· Congenital factor XII deficiency

Визначення(English summary)

A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
All ages