Vici Syndrome - CISMeF

Preferred Label : Vici Syndrome;

NCIt synonyms : VICIS;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the EPG5 gene, encoding ectopic P granules protein 5 homolog. It is characterized by variable immunodeficiency, cleft lip/palate, cataracts, hypopigmentation, and absent corpus callosum.;

Details

Origin ID

C138174;

UMLS CUI

C1855772;

Currated CISMeF NLP mapping
- Absent corpus callosum cataract immunodeficiency [MeSH concept]
- Corpus callosum agenesis – cataract – immunodeficiency [ICD-11 More detail]
- Vici syndrome [DO Concept]
- Vici syndrome [ORDO Disease]
- Vici syndrome [OMIM Phenotype]
- Vici syndrome (disorder) [SNOMED CT concept]
- absent corpus callosum cataract immunodeficiency [MeSH Supplementary Concept]
DO Cross reference
- Vici syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Absent corpus callosum cataract immunodeficiency [MeSH concept]
- Vici syndrome [ORDO Disease]
- Vici syndrome [DO Concept]
- Vici syndrome [OMIM Phenotype]
- Vici syndrome (disorder) [SNOMED CT concept]
- absent corpus callosum cataract immunodeficiency [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- EPG5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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