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719272007: Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315789010 Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315790018 Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315791019 Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402045018 A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402046017 A rare disorder characterised by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315789010 Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315789010 Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315790018 Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315790018 Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315791019 Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315791019 Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315792014 An extremely rare disorder described in one family to date that has characteristics of progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation and mild cardiac hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402045018 A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402046017 A rare disorder characterised by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3437461001000112 Progressiver sensorineuraler Hörverlust - hypertrophe Kardiomyopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957501000172115 syndrome de surdité neurosensorielle progressive-cardiomyopathie hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989831000172110 syndrome de surdité de perception progressive, cardiomyopathie hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957501000172115 syndrome de surdité neurosensorielle progressive-cardiomyopathie hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989831000172110 syndrome de surdité de perception progressive, cardiomyopathie hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437461001000112 Progressiver sensorineuraler Hörverlust - hypertrophe Kardiomyopathie 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
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a Hypertrophic cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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