Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3770082019 | Arthrogryposis and ectodermal dysplasia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3770083012 | Stoll Alembik Finck syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3770084018 | Arthrogryposis and ectodermal dysplasia syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3770085017 | Arthrogryposis, ectodermal dysplasia, other anomalies syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3770086016 | A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Case sensitive | SNOMED CT core |
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