Status: current, Primitive. Date: 31-Oct 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5145775012 | Oculocerebrodental syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
5145776013 | Oculocerebrodental syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
5145777016 | Oculo-cerebro-dental syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
5145779018 | A rare ciliopathy with characteristics of congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges and retrognathia) and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Australian dialect reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set