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 |
| 3442368017 | Familial Scheuermann disease (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442369013 | Familial Scheuermann disease | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442370014 | Familial Scheuermann juvenile kyphosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442371013 | Familial spinal osteochondrosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442372018 | A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 890691000172112 | maladie de Scheuermann familiale | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 954751000172118 | cyphose juvénile de Scheuermann familiale | 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 |
| Familial Scheuermann disease (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial Scheuermann disease (disorder) | Is a | Juvenile osteochondrosis of spine | true | Inferred relationship | Some | ||
| Familial Scheuermann disease (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Familial Scheuermann disease (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Familial Scheuermann disease (disorder) | Associated morphology | dégénérescence | false | Inferred relationship | Some | 1 | |
| Familial Scheuermann disease (disorder) | Occurrence | Adolescence | true | Inferred relationship | Some | 1 | |
| Familial Scheuermann disease (disorder) | Finding site | Vertebral epiphysis | true | Inferred relationship | Some | 1 | |
| Familial Scheuermann disease (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR