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 |
| 5399758010 | A rare, primary bone dysplasia characterized by 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399759019 | A rare, primary bone dysplasia characterised by 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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
Component annotation with string value reference set (foundation metadata concept)
FHIR