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770784003: Sinoatrial node dysfunction and deafness (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702776010 Sinoatrial node dysfunction and deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702777018 Sinoatrial node dysfunction and deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702780017 A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sinoatrial node dysfunction and deafness Is a Sinus node dysfunction true Inferred relationship Some
Sinoatrial node dysfunction and deafness Occurrence Congenital true Inferred relationship Some 1
Sinoatrial node dysfunction and deafness Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a Auditory system hereditary disorder true Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a Congenital deafness true Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a Congenital cardiovascular disorder (disorder) true Inferred relationship Some
Sinoatrial node dysfunction and deafness Occurrence Congenital true Inferred relationship Some 2
Sinoatrial node dysfunction and deafness Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Sinoatrial node dysfunction and deafness Finding site Inner ear structure (body structure) true Inferred relationship Some 2
Sinoatrial node dysfunction and deafness Finding site Structure of sinoatrial node true Inferred relationship Some 1
Sinoatrial node dysfunction and deafness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Sinoatrial node dysfunction and deafness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Sinoatrial node dysfunction and deafness Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Sinoatrial node dysfunction and deafness Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a Congenital anomaly of inner ear true Inferred relationship Some
Sinoatrial node dysfunction and deafness Finding site Atrial structure true Inferred relationship Some 3
Sinoatrial node dysfunction and deafness Interprets Hearing true Inferred relationship Some 4
Sinoatrial node dysfunction and deafness Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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