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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome

\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Maternally inherited cardiomyopathy and hearing loss syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Maternally inherited cardiomyopathy and hearing loss syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Maternally inherited cardiomyopathy and hearing loss syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Maternally inherited cardiomyopathy and hearing loss syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Maternally inherited cardiomyopathy and hearing loss syndrome

\Sensorineural hearing loss\Maternally inherited cardiomyopathy and hearing loss syndrome

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Maternally inherited cardiomyopathy and hearing loss syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Maternally inherited cardiomyopathy and hearing loss syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3431502019 Maternally inherited cardiomyopathy and deafness en Synonym Active Case insensitive SNOMED CT core

3431504018 Maternally inherited cardiomyopathy and hearing loss syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maternally inherited cardiomyopathy and hearing loss syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	2
Maternally inherited cardiomyopathy and hearing loss syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome	Is a	Hypertrophic cardiomyopathy	true	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome	Finding site	Ear structure	false	Inferred relationship	Some	2
Maternally inherited cardiomyopathy and hearing loss syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Maternally inherited cardiomyopathy and hearing loss syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Some	4
Maternally inherited cardiomyopathy and hearing loss syndrome	Finding site	Myocardium structure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3431501014	Maternally inherited cardiomyopathy and hearing loss syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3431502019	Maternally inherited cardiomyopathy and deafness	en	Synonym	Active	Case insensitive	SNOMED CT core
3431504018	Maternally inherited cardiomyopathy and hearing loss syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core