Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
| 4697261018 | Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | Is a | Congenital 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 | 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 | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR