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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | Advanced bone age | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | interprète (attribut) | mesure de la taille corporelle | true | Inferred relationship | Some | 2 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome | morphologie associée (attribut) | dysplasie | 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 |
This concept is not in any reference sets
FHIR