Anglais

This subject phenotype table includes parent origin and stage of nondisjunction error, self-reported maternal race, maternal age, family number and relationship descriptor, sex, site family was recruited through, cytogenetic and karyotype results for children, and variable to indicate if genotyping was successfully completed.

6 Formulaires  
pht003841
Description

pht003841

Alias
UMLS CUI [1,1]
C3846158
Subject ID number
Description

SUBJECT_ID

Type de données

text

Alias
UMLS CUI [1,1]
C2348585
Parent of origin of nondisjunction error
Description

ORIGIN

Type de données

text

Alias
UMLS CUI [1,1]
C0030551
UMLS CUI [1,2]
C0028303
Stage of nondisjunction error (derived from chr21 genotyping data)
Description

STAGE

Type de données

text

Alias
UMLS CUI [1,1]
C0028303
UMLS CUI [1,2]
C1306673
Maternal race, self-reported through an interview
Description

RACE

Type de données

text

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C1858460
UMLS CUI [1,3]
C2700446
Family number
Description

FAMILY_ID

Type de données

text

Alias
UMLS CUI [1,1]
C3669174
Family relationship descriptor
Description

FAMILIAL.REL

Type de données

text

Alias
UMLS CUI [1,1]
C0015608
UMLS CUI [1,2]
C0282354
Gender
Description

SEX

Type de données

text

Alias
UMLS CUI [1,1]
C0079399
Site family was recruited through
Description

RECRUITMENT.CENTER

Type de données

string

Alias
UMLS CUI [1,1]
C2825164
UMLS CUI [1,2]
C0015576
UMLS CUI [1,3]
C2949735
Cytogenetic results for children
Description

CH21.CYTO.KARYOTYPE

Type de données

text

Alias
UMLS CUI [1,1]
C0752095
UMLS CUI [1,2]
C0008059
Karyotype results seen on array
Description

CH21.ARRAY.KARYOTYPE

Type de données

text

Alias
UMLS CUI [1,1]
C4520819
UMLS CUI [1,2]
C1510941
Variable to indicate if genotyping was successfully completed
Description

GENOTYPES

Type de données

text

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1272703
UMLS CUI [1,3]
C1556116
UMLS CUI [1,4]
C1285573
Maternal age at time of birth
Description

MATAGE

Type de données

text

Alias
UMLS CUI [1,1]
C0024915
UMLS CUI [1,2]
C2599577
Retour au début de la page

Similar models

This subject phenotype table includes parent origin and stage of nondisjunction error, self-reported maternal race, maternal age, family number and relationship descriptor, sex, site family was recruited through, cytogenetic and karyotype results for children, and variable to indicate if genotyping was successfully completed.

6 Formulaires
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht003841
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID number
text
C2348585 (UMLS CUI [1,1])
Item
Parent of origin of nondisjunction error
text
C0030551 (UMLS CUI [1,1])
C0028303 (UMLS CUI [1,2])
ORIGIN
Code List
Parent of origin of nondisjunction error
CL Item
paternal (1)
CL Item
maternal (2)
CL Item
unknown (.)
STAGE
Item
Stage of nondisjunction error (derived from chr21 genotyping data)
text
C0028303 (UMLS CUI [1,1])
C1306673 (UMLS CUI [1,2])
RACE
Item
Maternal race, self-reported through an interview
text
C0034510 (UMLS CUI [1,1])
C1858460 (UMLS CUI [1,2])
C2700446 (UMLS CUI [1,3])
FAMILY_ID
Item
Family number
text
C3669174 (UMLS CUI [1,1])
Item
Family relationship descriptor
text
C0015608 (UMLS CUI [1,1])
C0282354 (UMLS CUI [1,2])
FAMILIAL.REL
Code List
Family relationship descriptor
CL Item
mom (1)
CL Item
dad (2)
CL Item
child (3)
Item
Gender
text
C0079399 (UMLS CUI [1,1])
SEX
Code List
Gender
CL Item
male (1)
C0086582 (UMLS CUI [1,1])
CL Item
female (2)
C0086287 (UMLS CUI [1,1])
RECRUITMENT.CENTER
Item
Site family was recruited through
string
C2825164 (UMLS CUI [1,1])
C0015576 (UMLS CUI [1,2])
C2949735 (UMLS CUI [1,3])
Item
Cytogenetic results for children
text
C0752095 (UMLS CUI [1,1])
C0008059 (UMLS CUI [1,2])
CH21.CYTO.KARYOTYPE
Code List
Cytogenetic results for children
CL Item
for children (21)
Item
Karyotype results seen on array
text
C4520819 (UMLS CUI [1,1])
C1510941 (UMLS CUI [1,2])
CH21.ARRAY.KARYOTYPE
Code List
Karyotype results seen on array
CL Item
trisomy with interstitial deletion (arr 21q11.2q21.1(14,368,320-21,503,715)x3,21q21.1q21.1(21,504,834-22,656,636)x2,21q21.1q22.3(22,657,671-48,100,155)x3)
CL Item
looks like normal disomy (arr(21)x2)
CL Item
mosaic trisomy (arr(21)x2-3)
CL Item
regular trisomy (arr(21)x3)
CL Item
uniparental disomy with homozygous run then normal disomic het piece (upd(21)mat.arr 21q11.2q22.11(14,368,320-34,515,933)x2 hmz,21q22.11q22.3(34,515,933-48,100,155)x2 htz)
Item
Variable to indicate if genotyping was successfully completed
text
C1522602 (UMLS CUI [1,1])
C1272703 (UMLS CUI [1,2])
C1556116 (UMLS CUI [1,3])
C1285573 (UMLS CUI [1,4])
GENOTYPES
Code List
Variable to indicate if genotyping was successfully completed
CL Item
subject was not successfully genotyped but at least one person from the family trio was successfully genotyped and not dropped (0)
CL Item
sample successfully genotyped (1)
MATAGE
Item
Maternal age at time of birth
text
C0024915 (UMLS CUI [1,1])
C2599577 (UMLS CUI [1,2])
Retour au début de la page