Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Familial long QT syndrome
Synonyms

LQTS

Congenital long QT syndrome

Definitions

A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.

ID

http://www.orpha.net/ORDO/Orphanet_768

alternative_term

LQTS

Congenital long QT syndrome

definition

A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=768

has_age_of_onset

Adolescent

Adult

Childhood

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

OMIM:600919

OMIM:601005

OMIM:613485

OMIM:603830

OMIM:220400

MedDRA:10057926

OMIM:612955

OMIM:618447

OMIM:192500

OMIM:611820

OMIM:616247

OMIM:616249

ICD-11:BC65.0

UMLS:C1141890

OMIM:613693

OMIM:613695

OMIM:612347

OMIM:613688

OMIM:611819

OMIM:611818

label

Familial long QT syndrome

notation

Clinical group

ORPHA:768

prefixIRI

ORDO:Orphanet_768

prefLabel

Familial long QT syndrome

present_in

Worldwide AND has_point_prevalence_range : Unknown

subClassOf

http://www.orpha.net/ORDO/Orphanet_101934

http://www.orpha.net/ORDO/Orphanet_557492

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