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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 defect
P2Y12 (purinergic receptor p2y G protein-coupled 12) defect
ADP platelet receptor 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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD69.8
TermOverige gespecificeerde hemorragische aandoeningen
SNOMED CT to Orphanet simple map36355
SNOMED CT to ICD-10 extended map
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