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:

Shprintzen syndrome

DiGeorge syndrome

Sedlackova syndrome

DiGeorge sequence

Monosomy 22q11

22q11DS

Velocardiofacial syndrome

CATCH 22

Cayler cardiofacial syndrome

Microdeletion 22q11.2

Takao syndrome

Conotruncal anomaly face 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:C0431406
  • MedDRA:10012979
  • UMLS:C0795907
  • OMIM:188400
  • MeSH:D058165
  • MedDRA:10066430
  • OMIM:192430
  • UMLS:C0220704
  • ICD-10:D82.1
  • UMLS:C2936346
  • UMLS:C3266101
  • UMLS:C0012236
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_98033
  • http://www.orpha.net/ORDO/Orphanet_90642
  • http://www.orpha.net/ORDO/Orphanet_93547
  • http://www.orpha.net/ORDO/Orphanet_181402
  • http://www.orpha.net/ORDO/Orphanet_331220
  • http://www.orpha.net/ORDO/Orphanet_156532
  • http://www.orpha.net/ORDO/Orphanet_117573
  • http://www.orpha.net/ORDO/Orphanet_102283
  • http://www.orpha.net/ORDO/Orphanet_138047
  • http://www.orpha.net/ORDO/Orphanet_139036
  • http://www.orpha.net/ORDO/Orphanet_611327
present in
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_410225
  • http://www.orpha.net/ORDO/Orphanet_409984
  • http://www.orpha.net/ORDO/Orphanet_410066