disease arises from structure disease arises from alteration in structure 22q11.2 (Human) syndrome caused by partial chromosomal deletion congenital nervous system disorder immune system disorder heart disorder multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome obsolete syndromic anorectal malformation 22q11.2 deletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/6747 22q11 deletion syndrome 22q11DS DiGeorge syndrome DECIPHER:16 icd11.foundation:1868156761 Cayler cardiofacial syndrome DiGeorge sequence GARD:0010299 A chromosomal anomaly arising from the deletion of 22q11.2 region on the long arm region of chromosome 22, which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. NANDO:1200688 Historical clinical names such as DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face (Takao) syndrome, Cayler cardiofacial syndrome and Sedlackova syndrome describe phenotypic presentations within the spectrum of 22q11.2 deletion syndrome and are recorded as narrow synonyms or subclasses (PMID:20301696). Use this term when a 22q11.2 deletion has been identified. MONDO:0018923 Takao syndrome monosomy 22q11 Orphanet:567 conotruncal anomaly face syndrome 22q11.2DS VCFS Shprintzen syndrome NANDO:1200339 microdeletion 22q11.2 MedDRA:10012979 Sedlackova syndrome catch 22 NANDO:2200712 https://github.com/monarch-initiative/mondo/issues/10472 MedDRA:10066430 chromosome 22q deletion