Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3706214017 | Ogden syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3706215016 | Ogden syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3706216015 | Premature aging appearance, developmental delay, cardiac arrhythmia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ogden syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ogden syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
Ogden syndrome (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
Ogden syndrome (disorder) | Is a | Premature aging syndrome (disorder) | true | Inferred relationship | Some | ||
Ogden syndrome (disorder) | Is a | Disorder involving the integument of fetus OR newborn | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets