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 |
| 3658953016 | Ring chromosome 3 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658954010 | Ring chromosome 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658955011 | Ring chromosome 3 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3664250018 | A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are pre and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (clinodactyly, brachydactyly), cafe au lait patches and hypospadias. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4169821000052114 | ringkromosom 3-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 3 syndrome (disorder) | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 3 syndrome (disorder) | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 3 syndrome (disorder) | Is a | Anomaly of chromosome pair 3 | true | Inferred relationship | Some | ||
| Ring chromosome 3 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 3 syndrome (disorder) | Is a | kromosom ersatt av ring- eller dicentrisk kromosom | false | Inferred relationship | Some | ||
| Ring chromosome 3 syndrome (disorder) | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 3 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ring chromosome 3 syndrome (disorder) | 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