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 | Inactive | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403533011 | A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403534017 | A rare renal disease characterised by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnoea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. | 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) | 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 | false | 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 | |
| X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | Associated morphology | Chronic inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR