Bleeding diathesis due to thromboxane synthesis deficiency

Orpha code: 220443OMIM code: 614009

Definicja

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).

Disease data
Klasyfikacja

Disease

Kod ORPHA
220443
Kod OMIM
614009
Kod ICD10
D69.8
Kod ICD11
3B62.1

No additional description.

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