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bloedingsstoornis door P2Y12-defect (aandoening)
bloedingsstoornis door P2Y12-defect
bloedingsstoornis door ADP-bloedplaatjesreceptor P2Y12-defect
Defect of purinergic receptor p2y G protein-coupled 12
P2Y12 (purinergic receptor p2y G protein-coupled 12) defect
ADP platelet receptor P2Y12 defect
P2Y12 defect
A rare congenital hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive.
Id725291001
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
referentieset met complexe 'mapping' naar ICD-10
TargetD69.8
RuleTRUE
AdviceALWAYS D69.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified