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725291001: Defect of purinergic receptor p2y G protein-coupled 12 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3440815011 Defect of purinergic receptor p2y G protein-coupled 12 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3440816012 Defect of purinergic receptor p2y G protein-coupled 12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3440817015 ADP platelet receptor P2Y12 defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440818013 P2Y12 (purinergic receptor p2y G protein-coupled 12) defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440819017 P2Y12 defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440820011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440821010 A rare congenital haemorrhagic disorder characterised by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative haemorrhage 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
10754711000172119 défaut du récepteur purinergique p2y G couplé à la protéine G12 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4735121000172114 bloedingsstoornis door P2Y12-defect nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4735131000172112 bloedingsstoornis door ADP-bloedplaatjesreceptor P2Y12-defect nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Is a Blood coagulation disorder true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Is a Congenital disease (disorder) true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Is a Hereditary platelet function disorder (disorder) true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Occurrence Congenital true Inferred relationship Some 1
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Finding site Structure of hematological system (body structure) true Inferred relationship Some 1
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Interprets Hemostatic function true Inferred relationship Some 2
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) Has interpretation Abnormal true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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