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autosomaal dominante trombocytopenie met secretiedefect van trombocyt (aandoening)
autosomaal dominante trombocytopenie met secretiedefect van trombocyt
autosomaal dominante trombopenie met gestoorde secretie van bloedplaatje
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.
Id1187252002
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Has interpretationonder referentiebereik
InterpretsPlatelet count
SNOMED CT to Orphanet simple map466806
SNOMED CT to ICD-10 extended map
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