| Vici-syndroom (aandoening) | | Vici-syndroom | | syndroom van immunodeficiëntie met gespleten gehemelte en lip, cataract, hypopigmentatie en afwezig corpus callosum
syndroom van Dionisi-Vici-Sabetta-Gambarara
syndroom van Vici
syndroom van agenesie van corpus callosum, cataract en immunodeficiëntie
| | 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. |
| | Id | 719824001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 1493 |
| SNOMED CT to ICD-10 extended map | | 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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