Status: current, 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 |
| 3304316012 | Ring chromosome 8 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304317015 | Ring chromosome 8 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304318013 | Chromosome 8 derived supernumerary ring | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401181016 | A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring chromosome 8 syndrome (disorder) | Is a | Anomaly of chromosome pair 8 | true | Inferred relationship | Some | ||
| Ring chromosome 8 syndrome (disorder) | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 8 syndrome (disorder) | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 8 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 8 syndrome (disorder) | Finding site | Chromosome pair 8 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 8 syndrome (disorder) | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 8 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ring chromosome 8 syndrome (disorder) | Is a | Multiple system malformation syndrome | 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