Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3736343010 | Acroosteolysis, keloid-like lesions, premature ageing syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3736344016 | Acroosteolysis, keloid-like lesions, premature aging syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3736345015 | Premature aging syndrome, Penttinen type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3736346019 | Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3736347011 | Premature ageing syndrome Penttinen type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3732001012 | A rare genetic progeroid syndrome disorder with characteristics of a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Is a | Premature ageing syndrome | true | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Is a | Acroosteolysis | false | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Is a | Metabolic bone disease | true | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | Is a | Hereditary acroosteolysis | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR