SUBJECT_ID
Item
De-identified subject identification
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
22q11.2DS
Item
22q11.2 deletion syndrome (DiGeorge syndrome/velo-cardio-facial syndrome)
text
C0012236 (UMLS CUI [1,1])
C0220704 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
SELF_REPORT_RACE
Item
Race of participant reported by the subject
string
C0034510 (UMLS CUI [1,1])
ETHNICITY
Item
Ethnicity of participant
string
C5441552 (UMLS CUI [1,1])
Item
Intracardiac or aortic arch anomaly
text
C0018798 (UMLS CUI [1,1])
C0158629 (UMLS CUI [1,2])
Code List
Intracardiac or aortic arch anomaly
CL Item
defect_present (1)
Item
Persistent truncus arteriosus
text
C0041207 (UMLS CUI [1,1])
Code List
Persistent truncus arteriosus
CL Item
defect_present (1)
CL Item
not applicable (NA)
C1272460 (UMLS CUI [1,1])
Item
Tetralogy of Fallot
text
C0039685 (UMLS CUI [1,1])
Code List
Tetralogy of Fallot
CL Item
defect_present (1)
CL Item
not applicable (NA)
C1272460 (UMLS CUI [1,1])