Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3325063017 | IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3330144013 | Oculootoradial syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3330145014 | Oculootoradial syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3330146010 | Oculo-oto-radial syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3330147018 | IVIC syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3323311015 | A very rare genetic malformation syndrome with characteristics of upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances and congenital bilateral non-progressive mixed hearing loss. Prevalence is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor. Inherited in an autosomal dominant manner. | 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