Elig.phs001314.v1.p1.1
Item
*Inclusion Criteria:*
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.2
Item
For People with 21-OHD:
boolean
C1698493 (UMLS CUI [1,1])
C0852654 (UMLS CUI [1,2])
Elig.phs001314.v1.p1.3
Item
21OHD documented by molecular genetic analysis (mutations in CYP21A2 gene on both parental alleles)
boolean
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])
Elig.phs001314.v1.p1.4
Item
Treatment with glucocorticoid replacement since infancy (begun within the first year of life)
boolean
C0744425 (UMLS CUI [1,1])
C1711239 (UMLS CUI [1,2])
C0231330 (UMLS CUI [1,3])
Elig.phs001314.v1.p1.5
Item
Available hormonal data and treatment details over the 5 years prior to study entry
boolean
C0470187 (UMLS CUI [1,1])
C0019932 (UMLS CUI [1,2])
C1511726 (UMLS CUI [1,3])
C0087111 (UMLS CUI [1,4])
C1522508 (UMLS CUI [1,5])
C0332152 (UMLS CUI [1,6])
C0008976 (UMLS CUI [1,7])
C0679823 (UMLS CUI [1,8])
Elig.phs001314.v1.p1.6
Item
Premenopausal
boolean
C0232969 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.7
Item
Female
boolean
C0086287 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.8
Item
Ages 20-35 years
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.9
Item
For Healthy Controls:
boolean
C1708335 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.10
Item
No diagnosis of 21-OHD CAH, as confirmed by molecular genetic analysis
boolean
C1298908 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0852654 (UMLS CUI [1,3])
C0750484 (UMLS CUI [1,4])
C1513380 (UMLS CUI [1,5])
Elig.phs001314.v1.p1.11
Item
No first degree relative is enrolled as a 21-OHD CAH participant
boolean
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])
Elig.phs001314.v1.p1.12
Item
Premenopausal
boolean
C0232969 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.13
Item
Female
boolean
C0086287 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.14
Item
Ages 20-35 years
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.15
Item
*Exclusion Criteria:*
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.16
Item
Medical disorder or treatment with medications known to affect bone density (other than glucocorticoids for 21-OHD CAH patients), including, but not limited to growth hormone, IGF-I, depo-medroxyprogesterone acetate, biphosphonates, oral contraceptives, androgens, thyroxine, or aromatase inhibitors
boolean
C0012634 (UMLS CUI [1,1])
C3146298 (UMLS CUI [1,2])
C0013227 (UMLS CUI [1,3])
C0392760 (UMLS CUI [1,4])
C0005938 (UMLS CUI [1,5])
C0037663 (UMLS CUI [2,1])
C0021665 (UMLS CUI [2,2])
C0086129 (UMLS CUI [2,3])
C0065864 (UMLS CUI [2,4])
C0012544 (UMLS CUI [2,5])
C0009905 (UMLS CUI [2,6])
C0002844 (UMLS CUI [2,7])
C0040165 (UMLS CUI [2,8])
C0593802 (UMLS CUI [2,9])
Elig.phs001314.v1.p1.17
Item
Pregnant
boolean
C0032961 (UMLS CUI [1,1])
Elig.phs001314.v1.p1.18
Item
Any smoking within the 6 months prior to study entry
boolean
C1519386 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C0008976 (UMLS CUI [1,3])
C0679823 (UMLS CUI [1,4])
Elig.phs001314.v1.p1.19
Item
Cardiac pacemaker or other implanted electronic medical device
boolean
C2735362 (UMLS CUI [1,1])
C0848753 (UMLS CUI [1,2])