460495004: Long QT syndrome with genetic marker (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2922800017 Long QT syndrome with genetic marker (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2922801018 Long QT syndrome with genetic marker en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Long QT syndrome with genetic marker	Is a	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.	false	Inferred relationship	Some
Long QT syndrome with genetic marker	Occurrence	Congenital	false	Inferred relationship	Some	2
Long QT syndrome with genetic marker	Finding site	Cardiac conducting system structure	false	Inferred relationship	Some
Long QT syndrome with genetic marker	Finding site	Heart structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Romano-Ward syndrome (disorder)	Is a	False	Long QT syndrome with genetic marker	Inferred relationship	Some
Jervell and Lange-Nielsen syndrome	Is a	False	Long QT syndrome with genetic marker	Inferred relationship	Some
Andersen Tawil syndrome (disorder)	Is a	False	Long QT syndrome with genetic marker	Inferred relationship	Some
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait.	Is a	False	Long QT syndrome with genetic marker	Inferred relationship	Some
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.	Is a	False	Long QT syndrome with genetic marker	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)