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