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 |
| 6148721000146114 | spondylo-epimetafysaire dysplasie type Bieganski | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6148731000146111 | spondylo-epimetafysaire dysplasie type Bieganski (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6148741000146115 | SEMD type Bieganski | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 |
| spondylo-epimetafysaire dysplasie type Bieganski | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
| spondylo-epimetafysaire dysplasie type Bieganski | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| spondylo-epimetafysaire dysplasie type Bieganski | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| spondylo-epimetafysaire dysplasie type Bieganski | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| spondylo-epimetafysaire dysplasie type Bieganski | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| spondylo-epimetafysaire dysplasie type Bieganski | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| spondylo-epimetafysaire dysplasie type Bieganski | Is a | Spondyloepimetaphyseal disorder | false | Inferred relationship | Some | ||
| spondylo-epimetafysaire dysplasie type Bieganski | 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