Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3307276010 | FRAXF syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307277018 | FRAXF syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401380010 | FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| FRAXF syndrome (disorder) | Is a | Fragile X chromosome | true | Inferred relationship | Some | ||
| FRAXF syndrome (disorder) | Associated morphology | Chromosomal morphology | true | Inferred relationship | Some | 1 | |
| FRAXF syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| FRAXF syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 1 | |
| FRAXF syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| FRAXF syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR