Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3658959017 | Ring chromosome 5 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658960010 | Ring chromosome 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658961014 | Ring chromosome 5 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658962019 | A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (for example hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 874971000172116 | syndrome du chromosome 5 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 977761000172110 | chromosome 5 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 902901000172116 | ringchromosoom 5 syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 981391000172116 | ring 5 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring chromosome 5 syndrome | Is a | Anomaly of chromosome pair 5 | true | Inferred relationship | Some | ||
| Ring chromosome 5 syndrome | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 5 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 5 syndrome | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 5 syndrome | Finding site | Chromosome pair 5 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 5 syndrome | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 5 syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ring chromosome 5 syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR