Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304708017 | Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3304709013 | Fibulo-ulnar hypoplasia and renal anomalies syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3304710015 | Fibuloulnar hypoplasia with renal abnormalities | en | Synonym | Active | Case insensitive | SNOMED CT core |
3304711016 | Saito Kuba Tsuruta syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3304712011 | This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It 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
Musculoskeletal finding reference set
Problem/Diagnosis reference set