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Кровоточивий діатез внаслідок дефіциту синтезу тромбоксану

ORPHA:220443· ICD-10 D69.8· Bleeding diathesis due to thromboxane synthesis deficiency

Визначення(English summary)

A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).