Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3706213011 | Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3706214017 | Ogden syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3706215016 | Ogden syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3706216015 | Premature aging appearance, developmental delay, cardiac arrhythmia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3896359011 | A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrhythmia and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ogden syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ogden syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
Ogden syndrome | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
Ogden syndrome | Is a | Premature ageing syndrome | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set