Autosomal recessive hereditary disorder
Giant platelet syndrome
Hereditary platelet function disorder
Hereditary thrombocytopenic disorder
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Severe autosomal recessive macrothrombocytopenia (disorder)
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.
ernstige autosomaal recessieve macrotrombocytopenie
ernstige autosomaal recessieve macrotrombopenie
Id1187614006
StatusPrimitive
Finding siteBody system structure
Has interpretationAbnormal
InterpretsHemostatic function
Has interpretationBelow reference range
InterpretsPlatelet count
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