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 |
| 749951000241119 | syndrome FRAXF (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 915791000172117 | syndrome FRAXF | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3307278011 | 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. Prevalence is unknown. The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene. | 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| FRAXF syndrome (disorder) | est un(e) (attribut) | Congenital malformation | true | Inferred relationship | Some | ||
| FRAXF syndrome (disorder) | est un(e) (attribut) | Fragile X chromosome | true | Inferred relationship | Some | ||
| FRAXF syndrome (disorder) | morphologie associée (attribut) | Chromosomal morphology | true | Inferred relationship | Some | 1 | |
| FRAXF syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| FRAXF syndrome (disorder) | localisation d'une constatation (attribut) | Sex chromosome X (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR