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 |
5403150016 | A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403151017 | A rare genetic disease characterised by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature greying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
929271000172115 | syndrome de surdité neurosensorielle-grisonnement précoce-tremblement essentiel | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3384181001000117 | Sensorineurale Schwerhörigkeit - frühes Ergrauen - essentieller Tremor | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Is a | Autosomal dominant hereditary disorder (disorder) | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Is a | Premature canities (disorder) | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Is a | Hereditary essential tremor | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 2 | |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Interprets | entité observable fonctionnelle | false | Inferred relationship | Some | ||
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Interprets | mouvement | false | Inferred relationship | Some | 5 | |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. | Interprets | Movement observable | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)