FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

698270004: Cardiac arrhythmia associated with genetic disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2988957012 A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973607014 Cardiac arrhythmia associated with genetic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2973616013 Cardiac arrhythmia associated with genetic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5436201000241112 arythmie cardiaque associée à un trouble génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

29 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Is a A disorder in which there is abnormal electrical activity in the heart. true Inferred relationship Some
A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Finding site Heart structure false Inferred relationship Some 1
A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Finding site Cardiac conducting system structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Genetic short QT syndrome Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
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. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Short QT syndrome (disorder) Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 11 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 10 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 3 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 12 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 13 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 4 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 5 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
Long QT syndrome type 2 (disorder) Is a False A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some
A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. Is a True A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. Inferred relationship Some

This concept is not in any reference sets

Back to Start