Inglês

The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.

6 Formulários  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, subject aliases, and affection status.
    3. The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
    5. This subject phenotype table includes subject gender, ancestry, ethnicity, race, paternal and maternal age at proband's birth, blood draw age, subject's relationship to proband, and final diagnosis. Physical observations include Tanner staging (n=6 variables) and CHARGE physical exam (n=9 variables). Laboratory measurements include serotonin (WB5HT) measurements (n=6 variables), karotype abnormalities, fragile-X test, duplication testing, and MRI. Psychological and Psychiatric Measurements include the following: cognitive measurments (n=11 variables), ADI-R (n=21 variables), VABS-II (n=6 variables), ADOS (n=12 variables), PPVT-4 (n=4 variables), EOWPVT (n=4 variables), CELF (n=3 variables), PLS-4 (n=4 variables), ABC-CV (n=6 variables), SCQ (n=3 variables), SRS (n=11 variables), RBS-R (n=9 variables), OCI-R (n=8 variables), CRI (n=4 variables), BAPQ (n=11 variables), PRL (n=9 variables), and SST (n=4 variables).
    6. This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.
pht003710
Descrição

pht003710

Alias
UMLS CUI [1,1]
C3846158
Family ID
Descrição

FAMILY_ID

Tipo de dados

text

Alias
UMLS CUI [1,1]
C3669174
Unique Subject ID
Descrição

SUBJECT_ID

Tipo de dados

text

Alias
UMLS CUI [1,1]
C2348585
Father's Subject ID
Descrição

FATHER

Tipo de dados

text

Alias
UMLS CUI [1,1]
C3669177
UMLS CUI [1,2]
C0030761
Mother's Subject ID
Descrição

MOTHER

Tipo de dados

text

Alias
UMLS CUI [1,1]
C3669352
UMLS CUI [1,2]
C0030761
Sex
Descrição

SEX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0079399
Voltar ao início da página

Similar models

The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.

6 Formulários
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, subject aliases, and affection status.
    3. The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
    5. This subject phenotype table includes subject gender, ancestry, ethnicity, race, paternal and maternal age at proband's birth, blood draw age, subject's relationship to proband, and final diagnosis. Physical observations include Tanner staging (n=6 variables) and CHARGE physical exam (n=9 variables). Laboratory measurements include serotonin (WB5HT) measurements (n=6 variables), karotype abnormalities, fragile-X test, duplication testing, and MRI. Psychological and Psychiatric Measurements include the following: cognitive measurments (n=11 variables), ADI-R (n=21 variables), VABS-II (n=6 variables), ADOS (n=12 variables), PPVT-4 (n=4 variables), EOWPVT (n=4 variables), CELF (n=3 variables), PLS-4 (n=4 variables), ABC-CV (n=6 variables), SCQ (n=3 variables), SRS (n=11 variables), RBS-R (n=9 variables), OCI-R (n=8 variables), CRI (n=4 variables), BAPQ (n=11 variables), PRL (n=9 variables), and SST (n=4 variables).
    6. This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht003710
C3846158 (UMLS CUI [1,1])
FAMILY_ID
Item
Family ID
text
C3669174 (UMLS CUI [1,1])
SUBJECT_ID
Item
Unique Subject ID
text
C2348585 (UMLS CUI [1,1])
FATHER
Item
Father's Subject ID
text
C3669177 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
MOTHER
Item
Mother's Subject ID
text
C3669352 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
Item
Sex
text
C0079399 (UMLS CUI [1,1])
SEX
Code List
Sex
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
CL Item
Unknown (9)
CL Item
Not applicable (99)
C1272460 (UMLS CUI [1,1])
Voltar ao início da página