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) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 2 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | est un(e) (attribut) | cardiomyopathie hypertrophique | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | est un(e) (attribut) | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 2 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | morphologie associée (attribut) | hypertrophie | true | Inferred relationship | Some | 4 | |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR