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 |
| 761941000241113 | syndrome d'Alport lié à l'X-léiomyomatose diffuse (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 Common French translation module (core metadata concept) |
| 958461000172119 | microdélétion Xq22.3 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | morphologie associée (attribut) | Leiomyomatosis | true | Inferred relationship | Some | 5 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 1 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | est un(e) (attribut) | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | est un(e) (attribut) | maladie néoplasique à évolution imprévisible (trouble) | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | est un(e) (attribut) | Congenital nephritis | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | est un(e) (attribut) | Alport syndrome X-linked (disorder) | true | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | morphologie associée (attribut) | Chronic inflammation | true | Inferred relationship | Some | 3 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | localisation d'une constatation (attribut) | Glomerulus structure | true | Inferred relationship | Some | 3 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | morphologie associée (attribut) | Deletion of long arm | true | Inferred relationship | Some | 4 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | localisation d'une constatation (attribut) | Sex chromosome X (cell structure) | true | Inferred relationship | Some | 4 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | morphologie associée (attribut) | Leiomyomatosis | false | Inferred relationship | Some | 5 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 2 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR