Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3737482017 | Ring chromosome 17 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737483010 | Ring chromosome 17 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737484016 | Ring chromosome 17 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737485015 | Ring 17 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737486019 | A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring chromosome 17 syndrome (disorder) | Is a | Anomaly of chromosome pair 17 | true | Inferred relationship | Some | ||
| Ring chromosome 17 syndrome (disorder) | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 17 syndrome (disorder) | Finding site | Chromosome pair 17 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 17 syndrome (disorder) | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 17 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 17 syndrome (disorder) | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 17 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ring chromosome 17 syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR