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 |
| 3448200017 | X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3448201018 | X-linked diffuse leiomyomatosis with Alport syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3448202013 | X-linked diffuse leiomyomatosis, Alport syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3448203015 | The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3448204014 | The association of X-linked Alport syndrome with leiomyomatosis of the oesophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 902471000172118 | syndrome d'Alport lié à l'X-léiomyomatose diffuse | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 958461000172119 | microdélétion Xq22.3 | fr | 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 |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Is a | Neoplastic disease of uncertain behavior | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Is a | Congenital nephritis | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Is a | Alport syndrome X-linked (disorder) | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Associated morphology | Chronic inflammation | true | Inferred relationship | Some | 3 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 3 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 4 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 4 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Associated morphology | Leiomyomatosis, no International Classification of Diseases for Oncology subtype | false | Inferred relationship | Some | 5 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Associated morphology | Leiomyomatosis | true | Inferred relationship | Some | 5 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR