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 |
| 3642123012 | Ring chromosome 16 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642124018 | Ring chromosome 16 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642125017 | Ring chromosome 16 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642126016 | A rare chromosomal anomaly syndrome resulting from the partial deletion of chromosome 16, with characteristics of pre and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecanthus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ring chromosome 16 syndrome | Is a | Anomaly of chromosome pair 16 | true | Inferred relationship | Some | ||
| Ring chromosome 16 syndrome | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Some | ||
| Ring chromosome 16 syndrome | Associated morphology | Ring chromosome | true | Inferred relationship | Some | 1 | |
| Ring chromosome 16 syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ring chromosome 16 syndrome | Finding site | Chromosome pair 16 | true | Inferred relationship | Some | 1 | |
| Ring chromosome 16 syndrome | Is a | Ring chromosome | true | Inferred relationship | Some | ||
| Ring chromosome 16 syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Ring chromosome 16 syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR