Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3645170016 | Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3645171017 | Multiple epiphyseal dysplasia with severe proximal femoral dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3645172012 | A rare primary bone dysplasia characterised by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centres and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3645173019 | A rare primary bone dysplasia characterized by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
901911000172114 | dysplasie épiphysaire multiple avec dysplasie fémorale sévère | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
923011000172119 | meervoudige epifysaire dysplasie, met ernstige proximale femorale dysplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
973991000172112 | multipele epifysaire dysplasie, met ernstige proximale femorale dysplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Multiple epiphyseal dysplasia | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Congenital anomaly of femur (disorder) | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Congenital anomaly of bone and joint | false | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Lesion of joint | false | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Disorder of hip joint (disorder) | false | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Finding site | Bone structure of proximal femur (body structure) | false | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Finding site | Structure of epiphysis | false | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Finding site | Bone structure of proximal femur (body structure) | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Finding site | Structure of epiphysis | true | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Chronic arthropathy | false | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Disorder of hip region (disorder) | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Congenital anomaly of lower trunk | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | Is a | Congenital dysplasia of limb (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets