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 |
| 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 |
| 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 | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Is a | Hypertrophic cardiomyopathy | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Interprets | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 4 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 4 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR