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 |
| 3658945012 | Ring chromosome 19 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658946013 | Ring chromosome 19 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658947016 | Ring chromosome 19 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658948014 | A rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (for example hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia and talipes equinovarus have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4127741000052112 | ringkromosom 19-syndromet | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring chromosome 19 syndrome | Finding site | Chromosome pair 19 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 19 syndrome | Is a | kromosom ersatt av ring- eller dicentrisk kromosom | false | Inferred relationship | Some | ||
| Ring chromosome 19 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 19 syndrome | Is a | Anomaly of chromosome pair 19 | true | Inferred relationship | Some | ||
| Ring chromosome 19 syndrome | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 19 syndrome | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 19 syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ring chromosome 19 syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR