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 |
| 3425690014 | Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425691013 | Sensorineural hearing loss, early graying, essential tremor syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425692018 | Sensorineural hearing loss, early greying, essential tremor syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 759901000241117 | syndrome de surdité neurosensorielle-grisonnement précoce-tremblement essentiel (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 929271000172115 | syndrome de surdité neurosensorielle-grisonnement précoce-tremblement essentiel | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3425693011 | Syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425694017 | Syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | interprète (attribut) | Movement (observable entity) | true | Inferred relationship | Some | 5 | |
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | est un(e) (attribut) | Premature canities (disorder) | true | Inferred relationship | Some | ||
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | est un(e) (attribut) | Hereditary essential tremor | true | Inferred relationship | Some | ||
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 1 | |
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 3 | |
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 2 | |
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
| Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR