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Human Diseases (thesaurus)

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Concept information

Preferred term

DiGeorge syndrome  

Definition

  • DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. (Wikipedia)

Entry terms

  • velocardiofacial syndrome

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-N0JB9FMQ-0

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