**Inclusion criteria:**
Item
**Inclusion criteria:**
boolean
C1512693 (UMLS CUI [1,1])
Individuals that sign an informed consent form for genetic research.
Item
Individuals that sign an informed consent form for genetic research.
boolean
C0021430 (UMLS CUI [1,1])
C0742766 (UMLS CUI [1,2])
C0243064 (UMLS CUI [1,3])
Unrelated de-identified individuals (probands) with 22q11.2DS.
Item
Unrelated de-identified individuals (probands) with 22q11.2DS.
boolean
C0445356 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
C0220704 (UMLS CUI [1,3])
C0702111 (UMLS CUI [1,4])
A clinical diagnosis of 22q11.2DS by a medical professional.
Item
A clinical diagnosis of 22q11.2DS by a medical professional.
boolean
C0332140 (UMLS CUI [1,1])
C0220704 (UMLS CUI [1,2])
C1704312 (UMLS CUI [1,3])
Molecular testing or FISH test positive for the presence of a 22q11.2 deletion. There are 4 blocks of low copy repeats that span the region associated with the syndrome, and they are LCR22-A, B, C and D. Those with LCR22A-B, A-C and A-D are included.
Item
Molecular testing or FISH test positive for the presence of a 22q11.2 deletion. There are 4 blocks of low copy repeats that span the region associated with the syndrome, and they are LCR22-A, B, C and D. Those with LCR22A-B, A-C and A-D are included.
boolean
C0752096 (UMLS CUI [1,1])
C0162789 (UMLS CUI [1,2])
C1514241 (UMLS CUI [1,3])
C0012236 (UMLS CUI [1,4])
C2717928 (UMLS CUI [1,5])
C5236343 (UMLS CUI [1,6])
C1512693 (UMLS CUI [1,7])
Existence of an echocardiogram summary report or cardiology report and a diagnosis of a particular defect or presence of normal structures.
Item
Existence of an echocardiogram summary report or cardiology report and a diagnosis of a particular defect or presence of normal structures.
boolean
C0013516 (UMLS CUI [1,1])
C0242482 (UMLS CUI [1,2])
C0583557 (UMLS CUI [1,3])
C0011900 (UMLS CUI [1,4])
C1457869 (UMLS CUI [1,5])
C0700276 (UMLS CUI [1,6])
C0205272 (UMLS CUI [1,7])
Both sexes, all races and ethnicities are included.
Item
Both sexes, all races and ethnicities are included.
boolean
C0444868 (UMLS CUI [1,1])
C0079399 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,3])
C0015031 (UMLS CUI [1,4])
C1512693 (UMLS CUI [1,5])
**Exclusion criteria:**
Item
**Exclusion criteria:**
boolean
C0680251 (UMLS CUI [1,1])
Individuals that do not sign an informed consent form for genetic research.
Item
Individuals that do not sign an informed consent form for genetic research.
boolean
C0742765 (UMLS CUI [1,1])
C0243064 (UMLS CUI [1,2])
Affected or unaffected relatives of 22q11.2DS cases, are excluded.
Item
Affected or unaffected relatives of 22q11.2DS cases, are excluded.
boolean
C0220704 (UMLS CUI [1,1])
C0392760 (UMLS CUI [1,2])
C2986417 (UMLS CUI [1,3])
C0680251 (UMLS CUI [1,4])
Subjects with LCR22B-D or C-D or atypical distal deletions to LCR22D on 22q11.2.
Item
Subjects with LCR22B-D or C-D or atypical distal deletions to LCR22D on 22q11.2.
boolean
C0681850 (UMLS CUI [1,1])
C3846158 (UMLS CUI [1,2])
C0205182 (UMLS CUI [1,3])
C1442161 (UMLS CUI [1,4])
Subjects with no cardiovascular phenotype information.
Item
Subjects with no cardiovascular phenotype information.
boolean
C0031437 (UMLS CUI [1,1])
C3887460 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
Cases have a heart or aortic arch defect. Controls have normal structures. Note that arterial branches from the aortic arch are not always identified by echocardiography. Newborns or young infants with a small ventricular septal defect, persistent foramen ovale, patient ductus arteriosus at birth or in early infancy, but that resolved spontaneously are noted but are not criteria for being termed a case.
Item
Cases have a heart or aortic arch defect. Controls have normal structures. Note that arterial branches from the aortic arch are not always identified by echocardiography. Newborns or young infants with a small ventricular septal defect, persistent foramen ovale, patient ductus arteriosus at birth or in early infancy, but that resolved spontaneously are noted but are not criteria for being termed a case.
boolean
C1706256 (UMLS CUI [1,1])
C5680872 (UMLS CUI [1,2])
C0018798 (UMLS CUI [1,3])
C0009932 (UMLS CUI [2,1])
C0700276 (UMLS CUI [2,2])
C0205272 (UMLS CUI [2,3])
C0013516 (UMLS CUI [3,1])
C0021289 (UMLS CUI [3,2])
C4314770 (UMLS CUI [3,3])
C0016522 (UMLS CUI [3,4])
C0013274 (UMLS CUI [3,5])
C3714811 (UMLS CUI [3,6])
C0205359 (UMLS CUI [3,7])