Autosomal dominant hereditary disorder
Hereditary thrombocytopenic disorder
Platelet secretory disorder
|||
Autosomal dominant thrombocytopenia with platelet secretion defect (disorder)
Autosomal dominant thrombocytopenia with platelet secretion defect
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma and potential postpartum hemorrhage among others.
autosomaal dominante trombocytopenie met secretiedefect van trombocyt
autosomaal dominante trombopenie met gestoorde secretie van bloedplaatje
Id1187252002
StatusPrimitive
Has interpretationAbnormal
InterpretsHemostatic function
Has interpretationBelow reference range
InterpretsPlatelet count
Finding siteBody system structure
ICD-10 complex map reference set
TargetD69.4
RuleTRUE
AdviceALWAYS D69.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified