Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303362013 | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3303367019 | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3303368012 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 7642361000172114 | dysplasie spondyloépiphysaire légère due à une mutation COL2A1 (collagen type II alpha 1 chain) associée à une arthrose précoce | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7642371000172117 | dysplasie spondyloépiphysaire légère associée à une arthrose à début précoce due à une mutation alpha 1 du collagène de type II | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7642381000172119 | arthrose précoce avec dysplasie spondyloépiphysaire intermédiaire due à une mutation du gène COL2A1 (collagen type II alpha 1 chain) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5513651000172110 | lichte spondylo-epifysaire dysplasie met vroeg optredende artrose door COL2A1-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5513661000172112 | milde spondylo-epifysaire dysplasie met vroeg optredende artrose door collageen-type-2-alfa-1-mutatie | 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 |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Is a | Spondyloepiphyseal dysplasia congenita group (disorder) | true | Inferred relationship | Some | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR