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The subject phenotype table includes subject gender, race of subject and parents, cleft status of subject and parents, syndromic diagnosis, family history of clefting, and participant's mother's smoking status, alcohol intake, and vitamin intake during pregnancy.

6 Formulaires  
pht003854
Description

pht003854

Alias
UMLS CUI [1,1]
C3846158
Deidentified subject ID
Description

SUBJID

Type de données

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
Gender of participant
Description

GENDER

Type de données

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant
Description

RACE

Type de données

text

Alias
UMLS CUI [1,1]
C0034510
Cleft Status of participant- general specification
Description

CLEFT_I

Type de données

text

Alias
UMLS CUI [1,1]
C4321245
UMLS CUI [1,2]
C0008925
UMLS CUI [1,3]
C0449438
UMLS CUI [1,4]
C0205246
UMLS CUI [1,5]
C2348235
Cleft Status of participant- specific specification
Description

CLEFT_II

Type de données

text

Alias
UMLS CUI [1,1]
C4321245
UMLS CUI [1,2]
C0008925
UMLS CUI [1,3]
C0449438
UMLS CUI [1,4]
C2348235
Syndromic Diagnosis
Description

SYNDROME

Type de données

text

Alias
UMLS CUI [1,1]
C0039082
UMLS CUI [1,2]
C0011900
Family history of clefting (more than one individual in the family has a cleft)
Description

FamHx

Type de données

text

Alias
UMLS CUI [1,1]
C0241889
UMLS CUI [1,2]
C4321245
UMLS CUI [1,3]
C0008925
UMLS CUI [1,4]
C5142998
UMLS CUI [1,5]
C0086282
UMLS CUI [1,6]
C0522476
Cleft status of participant's mother- general specification
Description

M_CLEFT

Type de données

text

Alias
UMLS CUI [1,1]
C4321245
UMLS CUI [1,2]
C0008925
UMLS CUI [1,3]
C0449438
UMLS CUI [1,4]
C0026591
UMLS CUI [1,5]
C0205246
UMLS CUI [1,6]
C2348235
Cleft status of participant's father- general specification
Description

F_CLEFT

Type de données

text

Alias
UMLS CUI [1,1]
C4321245
UMLS CUI [1,2]
C0008925
UMLS CUI [1,3]
C0449438
UMLS CUI [1,4]
C0015671
UMLS CUI [1,5]
C0205246
UMLS CUI [1,6]
C2348235
Race of participant's mother
Description

M_RACE

Type de données

text

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C0026591
Race of participant's father
Description

F_RACE

Type de données

text

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C0015671
Participant's mother smoked during pregnancy
Description

MSMOKE

Type de données

text

Alias
UMLS CUI [1,1]
C2114049
Participant's mother drank alcohol during pregnancy
Description

MDRINK

Type de données

text

Alias
UMLS CUI [1,1]
C2215686
Participant's mother took vitamins during pregnancy
Description

MVIT

Type de données

text

Alias
UMLS CUI [1,1]
C0026591
UMLS CUI [1,2]
C1524063
UMLS CUI [1,3]
C0042890
UMLS CUI [1,4]
C0347984
UMLS CUI [1,5]
C0032961
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The subject phenotype table includes subject gender, race of subject and parents, cleft status of subject and parents, syndromic diagnosis, family history of clefting, and participant's mother's smoking status, alcohol intake, and vitamin intake during pregnancy.

6 Formulaires
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht003854
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Deidentified subject ID
string
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
GENDER
Code List
Gender of participant
CL Item
male (1)
C0086582 (UMLS CUI [1,1])
CL Item
female (2)
C0086287 (UMLS CUI [1,1])
Item
Race of participant
text
C0034510 (UMLS CUI [1,1])
RACE
Code List
Race of participant
CL Item
Caucasian (1)
CL Item
Af. American (2)
CL Item
Asian (3)
CL Item
Native American (5)
CL Item
Caucasian and Native American (15)
Item
Cleft Status of participant- general specification
text
C4321245 (UMLS CUI [1,1])
C0008925 (UMLS CUI [1,2])
C0449438 (UMLS CUI [1,3])
C0205246 (UMLS CUI [1,4])
C2348235 (UMLS CUI [1,5])
CLEFT_I
Code List
Cleft Status of participant- general specification
CL Item
no cleft (0)
CL Item
cleft palate only (1)
CL Item
cleft lip only (2)
CL Item
cleft lip with cleft palate (3)
CL Item
syndromic cleft (6)
CL Item
unknown (9)
Item
Cleft Status of participant- specific specification
text
C4321245 (UMLS CUI [1,1])
C0008925 (UMLS CUI [1,2])
C0449438 (UMLS CUI [1,3])
C2348235 (UMLS CUI [1,4])
CLEFT_II
Code List
Cleft Status of participant- specific specification
CL Item
no cleft (0)
CL Item
cleft palate- soft only (1)
CL Item
cleft palate- hard (2)
CL Item
left cleft lip only (3)
CL Item
right cleft lip only (4)
CL Item
bilateral cleft lip (5)
CL Item
left cleft lip and palate (6)
CL Item
right cleft lip and palate (7)
CL Item
bilateral cleft lip and palate (8)
CL Item
unknown (9)
CL Item
microform (10)
CL Item
midline cleft lip (11)
CL Item
bifid uvula (12)
CL Item
velopharyngeal insufficiency (13)
Item
Syndromic Diagnosis
text
C0039082 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
SYNDROME
Code List
Syndromic Diagnosis
CL Item
N/A (0)
CL Item
Kabuki (1)
CL Item
Van der Woude (2)
CL Item
Van der Woude spectrum (3)
CL Item
popliteal pterygium (4)
CL Item
multiple congenital anomalies (5)
CL Item
Developmental Delay (6)
CL Item
unknown (9)
Item
Family history of clefting (more than one individual in the family has a cleft)
text
C0241889 (UMLS CUI [1,1])
C4321245 (UMLS CUI [1,2])
C0008925 (UMLS CUI [1,3])
C5142998 (UMLS CUI [1,4])
C0086282 (UMLS CUI [1,5])
C0522476 (UMLS CUI [1,6])
FamHx
Code List
Family history of clefting (more than one individual in the family has a cleft)
CL Item
no family history (0)
CL Item
positive family history (1)
CL Item
unknown (9)
Item
Cleft status of participant's mother- general specification
text
C4321245 (UMLS CUI [1,1])
C0008925 (UMLS CUI [1,2])
C0449438 (UMLS CUI [1,3])
C0026591 (UMLS CUI [1,4])
C0205246 (UMLS CUI [1,5])
C2348235 (UMLS CUI [1,6])
M_CLEFT
Code List
Cleft status of participant's mother- general specification
CL Item
no cleft (0)
CL Item
cleft palate only (1)
CL Item
cleft lip only (2)
CL Item
cleft lip with cleft palate (3)
CL Item
syndromic (8)
CL Item
unknown (9)
Item
Cleft status of participant's father- general specification
text
C4321245 (UMLS CUI [1,1])
C0008925 (UMLS CUI [1,2])
C0449438 (UMLS CUI [1,3])
C0015671 (UMLS CUI [1,4])
C0205246 (UMLS CUI [1,5])
C2348235 (UMLS CUI [1,6])
F_CLEFT
Code List
Cleft status of participant's father- general specification
CL Item
no cleft (0)
CL Item
cleft palate only (1)
CL Item
cleft lip only (2)
CL Item
cleft lip with cleft palate (3)
CL Item
syndromic (8)
CL Item
unknown (9)
Item
Race of participant's mother
text
C0034510 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
M_RACE
Code List
Race of participant's mother
CL Item
Caucasian (1)
CL Item
Af. American (2)
CL Item
Asian (3)
CL Item
Native American (5)
CL Item
unknown (9)
CL Item
Caucasian and Native American (15)
Item
Race of participant's father
text
C0034510 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
F_RACE
Code List
Race of participant's father
CL Item
Caucasian (1)
CL Item
Af. American (2)
CL Item
Asian (3)
CL Item
Native American (5)
CL Item
unknown (9)
CL Item
Caucasian and Native American (15)
Item
Participant's mother smoked during pregnancy
text
C2114049 (UMLS CUI [1,1])
MSMOKE
Code List
Participant's mother smoked during pregnancy
CL Item
no (0)
CL Item
yes (1)
CL Item
unknown (9)
Item
Participant's mother drank alcohol during pregnancy
text
C2215686 (UMLS CUI [1,1])
MDRINK
Code List
Participant's mother drank alcohol during pregnancy
CL Item
no (0)
CL Item
yes (1)
CL Item
unknown (9)
Item
Participant's mother took vitamins during pregnancy
text
C0026591 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
C0042890 (UMLS CUI [1,3])
C0347984 (UMLS CUI [1,4])
C0032961 (UMLS CUI [1,5])
MVIT
Code List
Participant's mother took vitamins during pregnancy
CL Item
no (0)
CL Item
yes (1)
CL Item
unknown (9)
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