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373905003: Jervell and Lange-Nielsen syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1229296017 Jervell and Lange-Nielsen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1229297014 Cardio-auditory syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2971264016 Jervell and Lange-Nielsen syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
932291000172112 syndrome de Jervell et Lange-Nielsen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954361000172117 syndrome de long QT-surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393481001000112 Jervell-Lange-Nielsen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Jervell and Lange-Nielsen syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a Congenital heart disease true Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a Any abnormal alteration of atrioventricular conduction. false Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a Cardiovascular system hereditary disorder false Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a Congenital anomaly of ear with impairment of hearing false Inferred relationship Some
Jervell and Lange-Nielsen syndrome Associated morphology Congenital impairment false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Finding site Ear structure false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Occurrence Congenital false Inferred relationship Some
Jervell and Lange-Nielsen syndrome Finding site Structure of cardiovascular system (body structure) false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Finding site Cardiac conducting system structure true Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Is a Congenital conduction defect true Inferred relationship Some
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome 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. true Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a Long QT syndrome with genetic marker false Inferred relationship Some
Jervell and Lange-Nielsen syndrome Occurrence Congenital false Inferred relationship Some 3
Jervell and Lange-Nielsen syndrome Associated morphology anomalie du développement false Inferred relationship Some 3
Jervell and Lange-Nielsen syndrome Finding site Ear structure false Inferred relationship Some 3
Jervell and Lange-Nielsen syndrome Occurrence Congenital false Inferred relationship Some 4
Jervell and Lange-Nielsen syndrome Associated morphology anomalie du développement false Inferred relationship Some 4
Jervell and Lange-Nielsen syndrome Finding site Cardiac conducting system structure false Inferred relationship Some 4
Jervell and Lange-Nielsen syndrome Interprets Hearing true Inferred relationship Some 4
Jervell and Lange-Nielsen syndrome Interprets entité observable fonctionnelle false Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a Structural disorder of heart (disorder) false Inferred relationship Some
Jervell and Lange-Nielsen syndrome Occurrence Congenital true Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Finding site Cardiac conducting system structure false Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
Jervell and Lange-Nielsen syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Jervell and Lange-Nielsen syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Jervell and Lange-Nielsen syndrome Occurrence Congenital true Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Jervell and Lange-Nielsen syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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