442917000: Familial long QT syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\...

\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome

\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome

\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 arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\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 arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome
\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 arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\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 arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome
\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 arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\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 arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Familial long QT syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial long QT syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Familial long QT syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial long QT syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Familial long QT syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac channelopathy\Long QT syndrome\Familial long QT syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Cardiac arrhythmia associated with genetic disorder (disorder)\Familial long QT syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2837534014 Congenital long QT syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2837535010 Inherited long QT syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3901309016 Familial long QT syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5223382019 Familial long QT syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5223383012 A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3130521000052114 medfött långt QT-syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial long QT syndrome	Is a	Long QT syndrome	true	Inferred relationship	Some
Familial long QT syndrome	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Familial long QT syndrome	Finding site	Cardiac conducting system structure	false	Inferred relationship	Some
Familial long QT syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Familial long QT syndrome	Finding site	Heart structure	false	Inferred relationship	Some	2
Familial long QT syndrome	Is a	Cardiac arrhythmia associated with genetic disorder (disorder)	true	Inferred relationship	Some
Familial long QT syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Familial long QT syndrome	Is a	Congenital cardiovascular disorder (disorder)	false	Inferred relationship	Some
Familial long QT syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Familial long QT syndrome	Finding site	Heart structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Romano-Ward syndrome	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Jervell and Lange-Nielsen syndrome	Is a	True	Familial long QT syndrome	Inferred relationship	Some
långt QT-syndrom med genetisk markör	Is a	False	Familial long QT syndrome	Inferred relationship	Some
Andersen Tawil syndrome (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Timothy syndrome type 2 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Timothy syndrome type 1 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 9	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 6 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Family history of congenital long QT syndrome	Associated finding	True	Familial long QT syndrome	Inferred relationship	Some	1
Long QT syndrome type 4 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 5 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 2 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 11 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 10 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 3 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 12 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some
Long QT syndrome type 13 (disorder)	Is a	True	Familial long QT syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2837534014	Congenital long QT syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2837535010	Inherited long QT syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3901309016	Familial long QT syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5223382019	Familial long QT syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5223383012	A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3130521000052114	medfött långt QT-syndrom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)