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770784003: dysfonction sinusale et surdité (trouble)


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
769891000241113 dysfonction sinusale et surdité (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
942431000172113 dysfonction sinusale et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 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 morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Sinoatrial node dysfunction and deafness est un(e) (attribut) Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Sinoatrial node dysfunction and deafness est un(e) (attribut) Congenital anomaly of inner ear true Inferred relationship Some
Sinoatrial node dysfunction and deafness localisation d'une constatation (attribut) structure d'un atrium true Inferred relationship Some 3
Sinoatrial node dysfunction and deafness interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Sinoatrial node dysfunction and deafness est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Sinoatrial node dysfunction and deafness est un(e) (attribut) dysfonction du nœud sinoauriculaire (trouble) true Inferred relationship Some
Sinoatrial node dysfunction and deafness survenue (attribut) congénital true Inferred relationship Some 1
Sinoatrial node dysfunction and deafness est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Sinoatrial node dysfunction and deafness est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Sinoatrial node dysfunction and deafness est un(e) (attribut) Congenital deafness true Inferred relationship Some
Sinoatrial node dysfunction and deafness est un(e) (attribut) Congenital cardiovascular disorder (disorder) true Inferred relationship Some
Sinoatrial node dysfunction and deafness survenue (attribut) congénital true Inferred relationship Some 2
Sinoatrial node dysfunction and deafness est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Sinoatrial node dysfunction and deafness localisation d'une constatation (attribut) structure de l'oreille interne (structure corporelle) true Inferred relationship Some 2
Sinoatrial node dysfunction and deafness localisation d'une constatation (attribut) Structure of sinoatrial node true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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