English

This subject phenotype data table includes 22q11.2 deletion syndrome (DS) status, subject's sex, self reported race, and ethnicity, heart anomaly status and type (normal aortic arch, tetralogy of Fallot, persistent truncus arteriosus, unspecified aortic arch anomaly, or pulmonic stenosis.

6 forms  
pht004970
Description

pht004970

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

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
22q11.2 deletion syndrome
Description

22q11.2DS

Data type

text

Alias
UMLS CUI [1,1]
C0012236
UMLS CUI [1,2]
C0220704
Gender of participant
Description

SEX

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant reported by the subject
Description

SELF_REPORT_RACE

Data type

string

Alias
UMLS CUI [1,1]
C0034510
Ethnicity of participant
Description

ETHNICITY

Data type

string

Alias
UMLS CUI [1,1]
C5441552
Presence or absence of a heart or aortic arch anomaly
Description

HEART_ANOMALY

Data type

string

Alias
UMLS CUI [1,1]
C0158629
UMLS CUI [1,2]
C0018798
Type of heart defect or presence of a specific anomaly
Description

HEART_ANOMALY_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C0018798
UMLS CUI [1,2]
C0332307
UMLS CUI [1,3]
C0000768
UMLS CUI [1,4]
C2348235
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Similar models

This subject phenotype data table includes 22q11.2 deletion syndrome (DS) status, subject's sex, self reported race, and ethnicity, heart anomaly status and type (normal aortic arch, tetralogy of Fallot, persistent truncus arteriosus, unspecified aortic arch anomaly, or pulmonic stenosis.

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht004970
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
22q11.2DS
Item
22q11.2 deletion syndrome
text
C0012236 (UMLS CUI [1,1])
C0220704 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
SEX
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])
HEART_ANOMALY
Item
Presence or absence of a heart or aortic arch anomaly
string
C0158629 (UMLS CUI [1,1])
C0018798 (UMLS CUI [1,2])
HEART_ANOMALY_TYPE
Item
Type of heart defect or presence of a specific anomaly
string
C0018798 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
C0000768 (UMLS CUI [1,3])
C2348235 (UMLS CUI [1,4])
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