Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634555013 | DIAPH1-related sensorineural deafness, thrombocytopenia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634556014 | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634560012 | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634561011 | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634559019 | A rare genetic disease with characteristics of progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | est un(e) (attribut) | maladie chronique | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | est un(e) (attribut) | Hereditary thrombocytopenic disorder (disorder) | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 5 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 1 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 1 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | interprète (attribut) | Hemostatic function (observable entity) | true | Inferred relationship | Some | 2 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 2 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | interprète (attribut) | Platelet count | true | Inferred relationship | Some | 3 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR