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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) interprète (attribut) Hemostatic function (observable entity) true Inferred relationship Some 2
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 2
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) est un(e) (attribut) Blood coagulation disorder true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) est un(e) (attribut) Congenital disease true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) est un(e) (attribut) Hereditary platelet function disorder true Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) localisation d'une constatation (attribut) Structure of hematological system (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

US English

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