autosomaal recessieve hereditaire aandoening
hereditaire trombocytopathie
hereditaire trombocytopenie
reuzentrombocytensyndroom
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ernstige autosomaal recessieve macrotrombocytopenie (aandoening)
ernstige autosomaal recessieve macrotrombocytopenie
ernstige autosomaal recessieve macrotrombopenie
Severe autosomal recessive macrothrombocytopenia
A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia.
Id1187614006
StatusPrimitive
Finding sitestructuur van lichaamssysteem
Has interpretationafwijkend
Interpretshemostase
Has interpretationonder referentiebereik
InterpretsPlatelet count
SNOMED CT to Orphanet simple map438207
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