1204129001: Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\...

\Cardiac rhythm AND/OR rate finding\Finding of heart rate\Tachycardia\...

\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)

\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)

\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Cardiac rhythm AND/OR rate finding\Finding of heart rate\Tachycardia\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Cardiac rhythm AND/OR rate finding\Finding of heart rate\Tachycardia\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)

\Cardiovascular finding\Cardiovascular measurement - finding\Finding of heart rate\Tachycardia\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Cardiovascular measurement - finding\Finding of heart rate\Tachycardia\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Cardiac finding\Cardiac rhythm AND/OR rate finding\Finding of heart rate\Tachycardia\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Cardiac finding\Cardiac rhythm AND/OR rate finding\Finding of heart rate\Tachycardia\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)

\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\Tachyarrhythmia\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Ventricular tachycardia\Ventricular tachycardia, polymorphic\Catecholaminergic polymorphic ventricular tachycardia (disorder)\Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4952427019 Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4952428012 Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7739461000241113 TV (tachycardie ventriculaire) polymorphe catécholaminergique due à une mutation du gène RYR2 (ryanodine receptor 2) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7739471000241117 tachycardie ventriculaire polymorphe catécholaminergique due à une mutation du gène RYR2 (ryanodine receptor 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Is a	Cardiac complication	true	Inferred relationship	Some
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Is a	Catecholaminergic polymorphic ventricular tachycardia (disorder)	true	Inferred relationship	Some
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Due to	Chromosomal disorder (disorder)	true	Inferred relationship	Some	3
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Finding site	Ventricular conducting pathway	true	Inferred relationship	Some	2
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Interprets	Heart rate	true	Inferred relationship	Some	1
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	Has interpretation	Increased	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4952427019	Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4952428012	Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7739461000241113	TV (tachycardie ventriculaire) polymorphe catécholaminergique due à une mutation du gène RYR2 (ryanodine receptor 2)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7739471000241117	tachycardie ventriculaire polymorphe catécholaminergique due à une mutation du gène RYR2 (ryanodine receptor 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module