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 |
| 3736343010 | Acroosteolysis, keloid-like lesions, premature ageing syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736344016 | Acroosteolysis, keloid-like lesions, premature aging syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736345015 | Premature aging syndrome, Penttinen type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736346019 | Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736347011 | Premature ageing syndrome Penttinen type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | est un(e) (attribut) | Premature aging syndrome (disorder) | true | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | est un(e) (attribut) | Acroosteolysis | false | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | est un(e) (attribut) | maladie métabolique de l'os | true | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Acroosteolysis, keloid-like lesions, premature ageing syndrome | est un(e) (attribut) | Hereditary acroosteolysis (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR