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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
5404925010 Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404926011 Sinoatrial node dysfunction and deafness is a rare genetic disease characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5404925010 Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404926011 Sinoatrial node dysfunction and deafness is a rare genetic disease characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420421001000117 Sinusknoten-Dysfunktion und Schwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
942431000172113 dysfonction sinusale et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
942431000172113 dysfonction sinusale et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420421001000117 Sinusknoten-Dysfunktion und Schwerhörigkeit 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
Sinoatrial node dysfunction and deafness (disorder) Is a Sinus node dysfunction true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Sinoatrial node dysfunction and deafness (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Is a Congenital deafness true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Is a Congenital cardiovascular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Sinoatrial node dysfunction and deafness (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Finding site Inner ear structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Sinoatrial node dysfunction and deafness (disorder) Finding site Structure of sinoatrial node (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Sinoatrial node dysfunction and deafness (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Sinoatrial node dysfunction and deafness (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Sinoatrial node dysfunction and deafness (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Sinoatrial node dysfunction and deafness (disorder) Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Is a Congenital anomaly of inner ear true Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Finding site Atrial structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Sinoatrial node dysfunction and deafness (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Sinoatrial node dysfunction and deafness (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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