Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723053017 | Spondylometaphyseal dysplasia Golden type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723054011 | X-linked spondylometaphyseal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723055012 | Spondylometaphyseal dysplasia Golden type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723056013 | A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondylometaphyseal dysplasia Golden type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Golden type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Golden type (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Golden type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Golden type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Golden type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Golden type (disorder) | Is a | Spondyloepimetaphyseal disorder | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Golden type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Golden type (disorder) | Is a | Spondylometaphyseal dysplasia | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Golden type (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Golden type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR