Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3437498017 | Autosomal dominant osteopetrosis type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437499013 | Autosomal dominant osteopetrosis type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437500016 | Albers Schonberg osteopetrosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4611849018 | A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant osteopetrosis type 2 (disorder) | Is a | Osteopetrosis | true | Inferred relationship | Some | ||
| Autosomal dominant osteopetrosis type 2 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant osteopetrosis type 2 (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Autosomal dominant osteopetrosis type 2 (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Autosomal dominant osteopetrosis type 2 (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | Interprets | Osteoclast turnover rate | true | Inferred relationship | Some | 2 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR