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724173009: Maternally inherited cardiomyopathy and hearing loss syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3431501014 Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431502019 Maternally inherited cardiomyopathy and deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431504018 Maternally inherited cardiomyopathy and hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403259010 A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403260017 A rare mitochondrial disease that has a heterogeneous clinical presentation characterised by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431501014 Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431502019 Maternally inherited cardiomyopathy and deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431504018 Maternally inherited cardiomyopathy and hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431503012 A mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation. The syndrome features the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis, muscle weakness, myalgia and exercise intolerance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403259010 A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403260017 A rare mitochondrial disease that has a heterogeneous clinical presentation characterised by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432461001000110 Mitochondriale DNA-assoziierte Kardiomyopathie mit Hörverlust de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432461001000110 Mitochondriale DNA-assoziierte Kardiomyopathie mit Hörverlust 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
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a Hypertrophic cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 4
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) 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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