Status: current, Primitive. 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 | Active | Case sensitive | SNOMED CT core |
| 4634556014 | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4634560012 | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4634561011 | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Case sensitive | 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 | 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 | true | Inferred relationship | Some | 4 | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Finding site | Structure of auditory system | 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 | Haemostatic 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 |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR