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hereditaire trombocytopenie met normale trombocyten (aandoening)
hereditaire trombocytopenie met normale trombocyten
erfelijke trombopenie met niet-afwijkende bloedplaatjes
Hereditary thrombocytopenia with normal platelets
A rare genetic isolated constitutional thrombocytopenia disease with characteristics of decreased platelet counts not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.
Id783251006
StatusPrimitive
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD69.4
TermOverige primaire trombocytopenie
SNOMED CT to Orphanet simple map268322
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