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Phenotype data: Tuberous sclerosis status, gender, ethnicity.

5 forms  
pht006699
Description

pht006699

Alias
UMLS CUI [1,1]
C3846158
De-identified Sample ID
Description

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Sex (male or female) of the patient
Description

SEX

Data type

string

Alias
UMLS CUI [1,1]
C0079399
Patient ethnicity
Description

ETHNICITY

Data type

string

Alias
UMLS CUI [1,1]
C5441552
Tuberous sclersosis complex diagnosis information per available medical records
Description

TSC_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C0041341
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0025102
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Similar models

Phenotype data: Tuberous sclerosis status, gender, ethnicity.

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht006699
C3846158 (UMLS CUI [1,1])
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])
TSC_STATUS
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)
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