Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723040015 | Spondyloepimetaphyseal dysplasia Bieganski type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723041016 | Spondyloepimetaphyseal dysplasia Bieganski type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723042011 | A rare primary bone dysplasia disorder with characteristics of infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepimetaphyseal dysplasia Bieganski type | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Bieganski type | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Bieganski type | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Bieganski type | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Bieganski type | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Spondyloepimetaphyseal dysplasia Bieganski type | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Bieganski type | Is a | Spondyloepimetaphyseal disorder | false | Inferred relationship | Some | ||
| Spondyloepimetaphyseal dysplasia Bieganski type | Associated morphology | Dysplasia | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR