Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3318044015 | Vici syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3318045019 | Vici syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3318046018 | Dionisi Vici Sabetta Gambarara syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3318047010 | A very rare and severe congenital multisystem disorder with the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Usually diagnosed in the first years of life. The phenotype is variable but the principal diagnostic features are almost always present at onset or evolve over time. Caused by mutations in the EPG5 gene (18q12.3) which encodes an important autophagy regulator, ectopic P-granules autophagy protein 5 (epg5). Formation of autolysosomes is specifically disturbed by an epg5 deficiency. | 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
Cardiovascular finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set