I.informed_consent_date_escapekd
Item
Date of informed consent for the EsCapeKD cohort study
date
C2985782 (UMLS CUI [1,1])
Item
Does the patient present congenital malformations?
text
C0000768 (UMLS CUI [1,1])
C1512698 (UMLS CUI [1,2])
Code List
Does the patient present congenital malformations?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C1705108 (UMLS CUI [1,1])
CL Item
Unknown (9)
C0439673 (UMLS CUI [1,1])
I.heart_affected
Item
If yes: Heart affected
boolean
C3649636 (UMLS CUI [1,1])
I.brain_affected
Item
If yes: Brain affected
boolean
C0000768 (UMLS CUI [1,1])
C4021085 (UMLS CUI [1,2])
I.eye_affected
Item
If yes: Eye affected
boolean
C0000768 (UMLS CUI [1,1])
C0015392 (UMLS CUI [1,2])
I.ear_affected
Item
If yes: Ear affected
boolean
C0000768 (UMLS CUI [1,1])
C0013443 (UMLS CUI [1,2])
I.skeleton_affected
Item
If yes: Skeleton affected
boolean
C0000768 (UMLS CUI [1,1])
C0816871 (UMLS CUI [1,2])
I.gitract_affected
Item
If yes: GI tract affected
boolean
C0000768 (UMLS CUI [1,1])
C0017189 (UMLS CUI [1,2])
I.gonads_affected
Item
If yes: Gonads affected
boolean
C0000768 (UMLS CUI [1,1])
C0018050 (UMLS CUI [1,2])
I.neuraltubes_affected
Item
If yes: Neural tubes affected
boolean
C0000768 (UMLS CUI [1,1])
C0027794 (UMLS CUI [1,2])
I.other_affected
Item
If yes: Other
boolean
C0205394 (UMLS CUI [1,1])
C0000768 (UMLS CUI [1,2])
I.organs_affected_other
Item
If other affected, please specify:
text
C1521902 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
C0000768 (UMLS CUI [1,3])
Item
Serum C3
text
C2097846 (UMLS CUI [1,1])
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
low (1)
C0205251 (UMLS CUI [1,1])
CL Item
elevated (2)
C0205250 (UMLS CUI [1,1])
Item
Serum IgA
text
C2229758 (UMLS CUI [1,1])
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
elevated (2)
C0205250 (UMLS CUI [1,1])