Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759948017 | Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759949013 | Mixed sclerosing bone dystrophy with extra-skeletal manifestation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759951012 | A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408626019 | A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408627011 | A rare, genetic, primary bone dysplasia with increased bone density disorder characterised by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Is a | Dysplasia with increased bone density (disorder) | true | Inferred relationship | Some | ||
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Interprets | Bone density scan | true | Inferred relationship | Some | 2 | |
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Finding site | Skeletal system structure | true | Inferred relationship | Some | 1 | |
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR