obsolete_Emanuel syndrome true Der(22)t(11;22) syndrome 3.41.0 MESH:C535733 Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities. MedDRA:10079203 Supernumerary der(22) syndrome http://purl.obolibrary.org/obo/MONDO_0012176 orphanet ICD10:Q92.6 OMIM:609029 Replaced with Mondo term. UMLS:C1836929