Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3481995017 | 49,XYYYY syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3481996016 | 49,XYYYY syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3481997013 | A rare Y chromosome number anomaly with a variable phenotype. The main characteristics of this disorder are moderate to severe intellectual disability, speech delay, hypotonia and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognathia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 49,XYYYY syndrome (disorder) | Is a | Anomaly of chromosome Y | true | Inferred relationship | Some | ||
| 49,XYYYY syndrome (disorder) | Is a | Sex chromosome aneuploidy (disorder) | true | Inferred relationship | Some | ||
| 49,XYYYY syndrome (disorder) | Associated morphology | Aneuploidy | true | Inferred relationship | Some | 1 | |
| 49,XYYYY syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 49,XYYYY syndrome (disorder) | Finding site | Sex chromosome Y | true | Inferred relationship | Some | 1 | |
| 49,XYYYY syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 49,XYYYY 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