SUBJECT_ID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
SEX
Item
Sex (male or female) of the patient
string
C0079399 (UMLS CUI [1,1])
ETHNICITY
Item
Patient ethnicity
string
C5441552 (UMLS CUI [1,1])
Item
Tuberous sclersosis complex diagnosis information per available medical records
text
C0041341 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0025102 (UMLS CUI [1,3])
Code List
Tuberous sclersosis complex diagnosis information per available medical records
CL Item
Definite TSC diagnosis (case) (1)
CL Item
Possible TSC diagnosis (case) (2)
CL Item
TSC case from biobank but specific diagnosis information not available (case) (3)
CL Item
Non-TSC individual (control) (4)