Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4694741018 | Mixed sclerosing bone dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4694742013 | Melorheostosis with osteopoikilosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4694743015 | MSBD (mixed sclerosing bone dystrophy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4694744014 | Melorheostosis with osteopoikilosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4694747019 | A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR