Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5145830015 | X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5145831016 | Xq28 contiguous gene deletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5145832011 | X-linked myotubular myopathy, abnormal genitalia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400372010 | X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400373017 | X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterised by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Is a | Disorder of male reproductive system (disorder) | true | Inferred relationship | Some | ||
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Is a | Congenital anomaly of male urogenital tract (disorder) | true | Inferred relationship | Some | ||
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Is a | Myotubular myopathy | true | Inferred relationship | Some | ||
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Is a | 46,XY disorder of sex development | true | Inferred relationship | Some | ||
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Finding site | Male genital structure | true | Inferred relationship | Some | 2 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 3 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Associated morphology | Partial deletion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 4 | |
| X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) | Associated morphology | Partial deletion (morphologic abnormality) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR