obsolete_22q11.2 deletion syndrome true 3.41.0 MedDRA:10066430 Sedlackova syndrome UMLS:C2936346 MedDRA:10012979 UMLS:C0012236 DiGeorge syndrome 22q11DS Takao syndrome UMLS:C3266101 DiGeorge sequence Shprintzen syndrome Replaced with Mondo term. MESH:D058165 http://purl.obolibrary.org/obo/MONDO_0018923 OMIM:188400 UMLS:C0795907 UMLS:C0220704 CATCH 22 Monosomy 22q11 ICD10:D82.1 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Microdeletion 22q11.2 MedDRA:10084363 OMIM:192430 Conotruncal anomaly face syndrome orphanet Cayler cardiofacial syndrome Velocardiofacial syndrome