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

\Blood coagulation disorder\P2Y12 defect

\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\P2Y12 defect

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\P2Y12 defect
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Disease\Blood disease\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Disease\Disorder of haemostatic system\Blood coagulation disorder\P2Y12 defect
\Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\P2Y12 defect
\Disease\Congenital disease\P2Y12 defect

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3440816012 Defect of purinergic receptor p2y G protein-coupled 12 en Synonym Active Initial character case insensitive SNOMED CT core

3440817015 ADP platelet receptor P2Y12 defect en Synonym Active Case sensitive SNOMED CT core

3440818013 P2Y12 (purinergic receptor p2y G protein-coupled 12) defect en Synonym Active Case sensitive SNOMED CT core

3440819017 P2Y12 defect en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
P2Y12 defect	Interprets	Haemostatic function	true	Inferred relationship	Some	2
P2Y12 defect	Has interpretation	Abnormal	true	Inferred relationship	Some	2
P2Y12 defect	Is a	Blood coagulation disorder	true	Inferred relationship	Some
P2Y12 defect	Is a	Congenital disease	true	Inferred relationship	Some
P2Y12 defect	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
P2Y12 defect	Is a	Hereditary platelet function disorder	true	Inferred relationship	Some
P2Y12 defect	Occurrence	Congenital	true	Inferred relationship	Some	1
P2Y12 defect	Finding site	Structure of hematological system	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3440815011	Defect of purinergic receptor p2y G protein-coupled 12 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3440816012	Defect of purinergic receptor p2y G protein-coupled 12	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3440817015	ADP platelet receptor P2Y12 defect	en	Synonym	Active	Case sensitive	SNOMED CT core
3440818013	P2Y12 (purinergic receptor p2y G protein-coupled 12) defect	en	Synonym	Active	Case sensitive	SNOMED CT core
3440819017	P2Y12 defect	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core