Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module
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 | SNOMED CT core module |
| 3303367019 | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3303368012 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Is a | Spondyloepiphyseal dysplasia congenita group | true | Inferred relationship | Existential restriction modifier | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR