Inglés

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 formularios  
pht004970
Descripción

pht004970

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

SUBJECT_ID

Tipo de datos

string

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

22q11.2DS

Tipo de datos

text

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

SEX

Tipo de datos

text

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

SELF_REPORT_RACE

Tipo de datos

string

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

ETHNICITY

Tipo de datos

string

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

HEART_ANOMALY

Tipo de datos

string

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

HEART_ANOMALY_TYPE

Tipo de datos

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 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
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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