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FHIR Server FHIR Server 3.7.22-SNAPSHOT
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FHIR Version n/a
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FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1463415012 | Neonatal osteosclerotic dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1483275012 | Neonatal osteosclerotic dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1010831000172110 | ostéosclérose néonatale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3382021001000112 | Dysplasie, neonatale osteosklerotische | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neonatal osteosclerotic dysplasia (disorder) | Is a | Osteochondrodysplasia syndrome | false | Inferred relationship | Some | ||
| Neonatal osteosclerotic dysplasia (disorder) | Is a | Neonatal disorder | false | Inferred relationship | Some | ||
| Neonatal osteosclerotic dysplasia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Neonatal osteosclerotic dysplasia (disorder) | Occurrence | Neonatal | false | Inferred relationship | Some | 2 | |
| Neonatal osteosclerotic dysplasia (disorder) | Associated morphology | Congenital malformation | false | Inferred relationship | Some | ||
| Neonatal osteosclerotic dysplasia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Neonatal osteosclerotic dysplasia (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
| Neonatal osteosclerotic dysplasia (disorder) | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Some | 1 | |
| Neonatal osteosclerotic dysplasia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Neonatal osteosclerotic dysplasia (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Neonatal osteosclerotic dysplasia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Neonatal osteosclerotic dysplasia (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Neonatal osteosclerotic dysplasia (disorder) | Is a | Dysplasia with increased bone density | true | Inferred relationship | Some | ||
| Neonatal osteosclerotic dysplasia (disorder) | Interprets | Bone density scan | true | Inferred relationship | Some | 2 | |
| Neonatal osteosclerotic dysplasia (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Blomstrand dysplasia (disorder) | Is a | True | Neonatal osteosclerotic dysplasia (disorder) | Inferred relationship | Some | |
| A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. | Is a | True | Neonatal osteosclerotic dysplasia (disorder) | Inferred relationship | Some | |
| Infantile cortical hyperostosis (disorder) | Is a | True | Neonatal osteosclerotic dysplasia (disorder) | Inferred relationship | Some | |
| Desmosterolosis (disorder) | Is a | True | Neonatal osteosclerotic dysplasia (disorder) | Inferred relationship | Some |
This concept is not in any reference sets