A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Synonyms:

22q11DS

Cayler cardiofacial syndrome

Shprintzen syndrome

CATCH 22

Sedlackova syndrome

Conotruncal anomaly face syndrome

DiGeorge sequence

Microdeletion 22q11.2

Takao syndrome

Velocardiofacial syndrome

Monosomy 22q11

DiGeorge syndrome

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
hasDbXref
  • UMLS:C0220704
  • MeSH:D058165
  • MedDRA:10066430
  • MedDRA:10012979
  • OMIM:192430
  • UMLS:C0012236
  • UMLS:C3266101
  • UMLS:C0431406
  • ICD-10:D82.1
  • OMIM:188400
  • UMLS:C2936346
  • UMLS:C0795907
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409950
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
  • http://www.orpha.net/ORDO/Orphanet_409975
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409929
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
  • http://www.orpha.net/ORDO/Orphanet_409975
notation
  • ORPHA:567
part of
  • http://www.orpha.net/ORDO/Orphanet_262182
  • http://www.orpha.net/ORDO/Orphanet_117573
  • http://www.orpha.net/ORDO/Orphanet_138047
  • http://www.orpha.net/ORDO/Orphanet_102283
  • http://www.orpha.net/ORDO/Orphanet_181402
  • http://www.orpha.net/ORDO/Orphanet_98033
  • http://www.orpha.net/ORDO/Orphanet_93547
  • http://www.orpha.net/ORDO/Orphanet_90642
  • http://www.orpha.net/ORDO/Orphanet_331220
  • http://www.orpha.net/ORDO/Orphanet_139036
  • http://www.orpha.net/ORDO/Orphanet_156532
  • http://www.orpha.net/ORDO/Orphanet_611327
present in
  • http://www.orpha.net/ORDO/Orphanet_410225
  • http://www.orpha.net/ORDO/Orphanet_409984
  • http://www.orpha.net/ORDO/Orphanet_410066
  • http://www.orpha.net/ORDO/Orphanet_409991