| Vici syndrome (disorder) | | Vici syndrome | | Dionisi Vici Sabetta Gambarara syndrome
| | 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. | | Vici-syndroom | | syndroom van agenesie van corpus callosum, cataract en immunodeficiëntie
syndroom van immunodeficiëntie met gespleten gehemelte en lip, cataract, hypopigmentatie en afwezig corpus callosum
syndroom van Dionisi-Vici-Sabetta-Gambarara
syndroom van Vici
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| | Id | 719824001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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