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 | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Is a | Chronic disease | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Is a | Hereditary thrombocytopenic disorder (disorder) | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 5 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Interprets | Hemostatic function | true | Inferred relationship | Some | 2 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Interprets | Platelet count | true | Inferred relationship | Some | 3 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR