Isolated delta-storage pool disease

Orpha code: 248340OMIM code:

Definicja

Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.

Disease data
Klasyfikacja

Disease

Synonimy
Isolated delta-SPD
Choroba puli magazynowej-izolowany defekt ziarnistości gęstych
Izolowana delta-SPD
Isolated dense-SPD
Isolated dense-storage pool disease
Kod ORPHA
248340
Kod OMIM
-
Kod ICD10
D69.1
Kod ICD11
3B62.3

No additional description.

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