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764457005: Cardiac arrhythmia ankyrin-B related (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3649921014 Cardiac arrhythmia ankyrin-B related en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3649922019 Ankyrin-B syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3649923012 Cardiac arrhythmia ankyrin-B related (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3649921014 Cardiac arrhythmia ankyrin-B related en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3649922019 Ankyrin-B syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3649923012 Cardiac arrhythmia ankyrin-B related (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5503441000241115 arythmie cardiaque liée à l'ankyrine-B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503441000241115 arythmie cardiaque liée à l'ankyrine-B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ankyrin-B syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ankyrin-B syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ankyrin-B syndrome Is a A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. true Inferred relationship Existential restriction modifier (core metadata concept)
Ankyrin-B syndrome Is a Congenital cardiovascular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ankyrin-B syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ankyrin-B syndrome Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ankyrin-B syndrome Finding site Cardiac conducting system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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