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 |
| 766761000241116 | dysplasie épiphysaire multiple avec dysplasie fémorale sévère (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 901911000172114 | dysplasie épiphysaire multiple avec dysplasie fémorale sévère | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | arthropathie chronique | false | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | Disorder of hip region (disorder) | true | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | Congenital anomaly of lower trunk | true | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | dysplasie épiphysaire multiple | true | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | Congenital anomaly of femur | true | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | Congenital anomaly of bone and joint | false | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | Lesion of joint | false | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | est un(e) (attribut) | Disorder of hip joint (disorder) | false | Inferred relationship | Some | ||
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | localisation d'une constatation (attribut) | Bone structure of proximal femur | false | Inferred relationship | Some | 2 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | localisation d'une constatation (attribut) | Structure of epiphysis | false | Inferred relationship | Some | 1 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | localisation d'une constatation (attribut) | Bone structure of proximal femur | true | Inferred relationship | Some | 1 | |
| Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) | localisation d'une constatation (attribut) | Structure of epiphysis | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR