Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697260017 | Short stature, advanced bone age, early-onset osteoarthritis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697261018 | Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697263015 | A rare primary bone dysplasia with characteristics of proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs and lordosis. Caused by heterozygous mutation in the ACAN gene on chromosome 15q26. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5893191000052118 | syndrom med kortvuxenhet, framskriden skelettålder och tidigt debuterande artros | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Advanced bone age | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 2 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR