Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321500017 | Camptodactyly syndrome Guadalajara type 1 (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3321501018 | Camptodactyly syndrome Guadalajara type 1 | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3321506011 | A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait. | 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
Australian dialect reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set