764457005: Cardiac arrhythmia ankyrin-B related (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Ankyrin-B syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Ankyrin-B syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Ankyrin-B syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ankyrin-B syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Ankyrin-B syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Ankyrin-B syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Ankyrin-B syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Cardiac arrhythmia associated with genetic disorder\Ankyrin-B syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Ankyrin-B syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3649921014 Cardiac arrhythmia ankyrin-B related en Synonym Active Initial character case insensitive SNOMED CT core

3649922019 Ankyrin-B syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3649923012 Cardiac arrhythmia ankyrin-B related (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3649621012 Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ankyrin-B syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ankyrin-B syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Ankyrin-B syndrome	Is a	Cardiac arrhythmia associated with genetic disorder	true	Inferred relationship	Some
Ankyrin-B syndrome	Is a	Congenital cardiovascular disorder	true	Inferred relationship	Some
Ankyrin-B syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ankyrin-B syndrome	Finding site	Structure of heart	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

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3649921014	Cardiac arrhythmia ankyrin-B related	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649922019	Ankyrin-B syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649923012	Cardiac arrhythmia ankyrin-B related (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3649621012	Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern.	en	Definition	Active	Case sensitive	SNOMED CT core