eligibilityform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID and consent group of participants with or without 21-Hydroxylase deficiency and involved in the "Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients with 21-Hydroxylase Deficiency" project.
    3. registration: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
    4. demographics: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
    5. eligibilityform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
    6. intakeform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
pht007999
Description

pht007999

Alias
UMLS CUI [1,1]
C3846158
Masked Participant Identifier [Eligibility Form]
Description

screening

Data type

float

Alias
UMLS CUI [1,1]
C1555580
UMLS CUI [1,2]
C2348585
Age range between 2035 years old [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C5418925
Female [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0086287
Premenopausal [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0232969
21OHD documented by molecular genetic analysis mutations in CYP21A2 gene on both parental alleles [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0852654
UMLS CUI [1,2]
C1513380
UMLS CUI [1,3]
C0026882
UMLS CUI [1,4]
C1413861
UMLS CUI [1,5]
C1706086
UMLS CUI [1,6]
C0030551
UMLS CUI [1,7]
C0002085
Treatment with glucocorticoid replacement since infancy within first year of life [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0744425
UMLS CUI [1,2]
C1711239
UMLS CUI [1,3]
C0231330
Availability of hormonal data for preceding 5 years [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0470187
UMLS CUI [1,2]
C0019932
UMLS CUI [1,3]
C1511726
UMLS CUI [1,4]
C0332152
UMLS CUI [1,5]
C0008976
Age range between 2035 years old [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C5418925
Female [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0086287
Premenopausal [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0232969
Not affected with 21OHD as documented by molecular genetic analysis [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0522477
UMLS CUI [1,2]
C0852654
UMLS CUI [1,3]
C1301725
UMLS CUI [1,4]
C1513380
No first degree relative enrolled as a 21OHD participant i.e. case [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C1517194
UMLS CUI [1,3]
C1516879
UMLS CUI [1,4]
C0852654
UMLS CUI [1,5]
C1698493
Is the participant of the same race white black other and within 6 cm in height of the case identified above [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0679646
UMLS CUI [1,2]
C0445247
UMLS CUI [1,3]
C0034510
UMLS CUI [1,4]
C0085756
UMLS CUI [1,5]
C0007457
UMLS CUI [1,6]
C0005890
UMLS CUI [1,7]
C1698493
Subject has a medical disorder known to affect bone density excluding 21OHD [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C1698493
UMLS CUI [1,2]
C0012634
UMLS CUI [1,3]
C0392760
UMLS CUI [1,4]
C0005938
UMLS CUI [1,5]
C1705847
UMLS CUI [1,6]
C0852654
Subject currently takes or has taken growth hormone IGFI depomedroxyprogesterone acetate bisphosphonates androgens or aromatase inhibitor in the past year [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0681850
UMLS CUI [1,2]
C1514756
UMLS CUI [1,3]
C0021665
UMLS CUI [1,4]
C0037663
UMLS CUI [1,5]
C0593802
UMLS CUI [1,6]
C0012544
UMLS CUI [1,7]
C0002844
UMLS CUI [1,8]
C0086129
UMLS CUI [1,9]
C0065864
UMLS CUI [1,10]
C4086728
Subject is pregnant [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0032961
Subject currently smokes or has smoked in the past 6 months [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C1519386
Subject has a cardiac pacemaker or other implanted electronic medical device [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C2735362
UMLS CUI [1,2]
C0030163
Subject is a known relative of one of the patient participants [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0015608
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C0679646
Participant Group [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0679646
UMLS CUI [1,2]
C0441833
No first degree relatives enrolled as a control [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C1517194
UMLS CUI [1,3]
C0009932
UMLS CUI [1,4]
C1516879
Subject is currently taking or has taken oral contraceptives and/or thyroxine in the past 2 weeks [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0681850
UMLS CUI [1,2]
C0521116
UMLS CUI [1,3]
C0205156
UMLS CUI [1,4]
C1512806
UMLS CUI [1,5]
C0009905
UMLS CUI [1,6]
C0040165
Form name [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C3242370
Visit [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C0545082
Form Status [Eligibility Form]
Description

screening

Data type

string

Alias
UMLS CUI [1,1]
C3176351
Data Management Coordinating Center Internal Identifier [Eligibility Form]
Description

screening

Data type

float

Alias
UMLS CUI [1,1]
C0596404
UMLS CUI [1,2]
C2825181
UMLS CUI [1,3]
C0600091
Computed Age (in days) at visit (where DOB provided) [Eligibility Form]
Description

screening

Data type

float

Measurement units
  • Days
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1320303
Days

Similar models

eligibilityform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID and consent group of participants with or without 21-Hydroxylase deficiency and involved in the "Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients with 21-Hydroxylase Deficiency" project.
    3. registration: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
    4. demographics: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
    5. eligibilityform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
    6. intakeform: This dataset has been checked for HIPAA sensitive information, consistency between the asserted data in the study description with the data available through dbGaP, distributable study document corresponding to the dataset, format for study loading, and items that may be ambiguous to dbGaP users. Code meanings and truncated variable descriptions are provided as submitted. For questions regarding the data, please contact the study investigators.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht007999
C3846158 (UMLS CUI [1,1])
maskid
Item
Masked Participant Identifier [Eligibility Form]
float
C1555580 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
CaseAgeRangeBtwn20_35YearsOld
Item
Age range between 2035 years old [Eligibility Form]
string
C5418925 (UMLS CUI [1,1])
CaseFemale
Item
Female [Eligibility Form]
string
C0086287 (UMLS CUI [1,1])
CasePremenopausal
Item
Premenopausal [Eligibility Form]
string
C0232969 (UMLS CUI [1,1])
_21OHDdocumented
Item
21OHD documented by molecular genetic analysis mutations in CYP21A2 gene on both parental alleles [Eligibility Form]
string
C0852654 (UMLS CUI [1,1])
C1513380 (UMLS CUI [1,2])
C0026882 (UMLS CUI [1,3])
C1413861 (UMLS CUI [1,4])
C1706086 (UMLS CUI [1,5])
C0030551 (UMLS CUI [1,6])
C0002085 (UMLS CUI [1,7])
Treatmentwithglucocorticoid
Item
Treatment with glucocorticoid replacement since infancy within first year of life [Eligibility Form]
string
C0744425 (UMLS CUI [1,1])
C1711239 (UMLS CUI [1,2])
C0231330 (UMLS CUI [1,3])
AvailabilityofHormonalData5Years
Item
Availability of hormonal data for preceding 5 years [Eligibility Form]
string
C0470187 (UMLS CUI [1,1])
C0019932 (UMLS CUI [1,2])
C1511726 (UMLS CUI [1,3])
C0332152 (UMLS CUI [1,4])
C0008976 (UMLS CUI [1,5])
ControlAgeRangeBtwn20_35YearsOld
Item
Age range between 2035 years old [Eligibility Form]
string
C5418925 (UMLS CUI [1,1])
ControlFemale
Item
Female [Eligibility Form]
string
C0086287 (UMLS CUI [1,1])
ControlPremenopausal
Item
Premenopausal [Eligibility Form]
string
C0232969 (UMLS CUI [1,1])
Notaffectedwith21OHD
Item
Not affected with 21OHD as documented by molecular genetic analysis [Eligibility Form]
string
C0522477 (UMLS CUI [1,1])
C0852654 (UMLS CUI [1,2])
C1301725 (UMLS CUI [1,3])
C1513380 (UMLS CUI [1,4])
CaseNoFirstDegreeRelative
Item
No first degree relative enrolled as a 21OHD participant i.e. case [Eligibility Form]
string
C1298908 (UMLS CUI [1,1])
C1517194 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
C0852654 (UMLS CUI [1,4])
C1698493 (UMLS CUI [1,5])
sameracewithn6cminheight
Item
Is the participant of the same race white black other and within 6 cm in height of the case identified above [Eligibility Form]
string
C0679646 (UMLS CUI [1,1])
C0445247 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,3])
C0085756 (UMLS CUI [1,4])
C0007457 (UMLS CUI [1,5])
C0005890 (UMLS CUI [1,6])
C1698493 (UMLS CUI [1,7])
MedDisorderAffectBoneDensity
Item
Subject has a medical disorder known to affect bone density excluding 21OHD [Eligibility Form]
string
C1698493 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
C0392760 (UMLS CUI [1,3])
C0005938 (UMLS CUI [1,4])
C1705847 (UMLS CUI [1,5])
C0852654 (UMLS CUI [1,6])
IsorHasTakenGrowthHormone
Item
Subject currently takes or has taken growth hormone IGFI depomedroxyprogesterone acetate bisphosphonates androgens or aromatase inhibitor in the past year [Eligibility Form]
string
C0681850 (UMLS CUI [1,1])
C1514756 (UMLS CUI [1,2])
C0021665 (UMLS CUI [1,3])
C0037663 (UMLS CUI [1,4])
C0593802 (UMLS CUI [1,5])
C0012544 (UMLS CUI [1,6])
C0002844 (UMLS CUI [1,7])
C0086129 (UMLS CUI [1,8])
C0065864 (UMLS CUI [1,9])
C4086728 (UMLS CUI [1,10])
Subjectispregnant
Item
Subject is pregnant [Eligibility Form]
string
C0032961 (UMLS CUI [1,1])
Subjectsmokes
Item
Subject currently smokes or has smoked in the past 6 months [Eligibility Form]
string
C1519386 (UMLS CUI [1,1])
Subjecthasacardiacpacemaker
Item
Subject has a cardiac pacemaker or other implanted electronic medical device [Eligibility Form]
string
C2735362 (UMLS CUI [1,1])
C0030163 (UMLS CUI [1,2])
Subjectisaknownrelative
Item
Subject is a known relative of one of the patient participants [Eligibility Form]
string
C0015608 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0679646 (UMLS CUI [1,3])
ParticipantGroup
Item
Participant Group [Eligibility Form]
string
C0679646 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
ControlNoFirstDegreeRelative
Item
No first degree relatives enrolled as a control [Eligibility Form]
string
C1298908 (UMLS CUI [1,1])
C1517194 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,3])
C1516879 (UMLS CUI [1,4])
OralContraceptivesThyroxine
Item
Subject is currently taking or has taken oral contraceptives and/or thyroxine in the past 2 weeks [Eligibility Form]
string
C0681850 (UMLS CUI [1,1])
C0521116 (UMLS CUI [1,2])
C0205156 (UMLS CUI [1,3])
C1512806 (UMLS CUI [1,4])
C0009905 (UMLS CUI [1,5])
C0040165 (UMLS CUI [1,6])
form_name
Item
Form name [Eligibility Form]
string
C3242370 (UMLS CUI [1,1])
Visit
Item
Visit [Eligibility Form]
string
C0545082 (UMLS CUI [1,1])
Form_Status
Item
Form Status [Eligibility Form]
string
C3176351 (UMLS CUI [1,1])
DMCC_record_id
Item
Data Management Coordinating Center Internal Identifier [Eligibility Form]
float
C0596404 (UMLS CUI [1,1])
C2825181 (UMLS CUI [1,2])
C0600091 (UMLS CUI [1,3])
visit_age
Item
Computed Age (in days) at visit (where DOB provided) [Eligibility Form]
float
C0001779 (UMLS CUI [1,1])
C1320303 (UMLS CUI [1,2])