Elig.phs001071.v1.p1.1
Item
*Inclusion criteria*:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs001071.v1.p1.2
Item
Subjects are able to provide informed consent
boolean
C0085732 (UMLS CUI [1,1])
C0021430 (UMLS CUI [1,2])
Elig.phs001071.v1.p1.3
Item
Index subjects with the HD gene previously identified, with or without clinical symptoms of the disease. Spouses, adult children, siblings, and parents of the index subject, regardless of previous HD test status or desire to obtain HD diagnostic testing.
boolean
C2597943 (UMLS CUI [1,1])
C0020179 (UMLS CUI [1,2])
C0017337 (UMLS CUI [1,3])
C0205396 (UMLS CUI [1,4])
C0205210 (UMLS CUI [1,5])
C1457887 (UMLS CUI [1,6])
C2597943 (UMLS CUI [2,1])
C0020179 (UMLS CUI [2,2])
C0017337 (UMLS CUI [2,3])
C0205396 (UMLS CUI [2,4])
C0205210 (UMLS CUI [2,5])
C0332288 (UMLS CUI [2,6])
C1457887 (UMLS CUI [2,7])
C2597943 (UMLS CUI [3,1])
C0162409 (UMLS CUI [3,2])
C0001675 (UMLS CUI [3,3])
C0008059 (UMLS CUI [3,4])
C0037047 (UMLS CUI [3,5])
C0030551 (UMLS CUI [3,6])
C0332291 (UMLS CUI [3,7])
C0205156 (UMLS CUI [3,8])
C0020179 (UMLS CUI [3,9])
C0456984 (UMLS CUI [3,10])
C0449438 (UMLS CUI [3,11])
C0871633 (UMLS CUI [3,12])
C0086143 (UMLS CUI [3,13])
Elig.phs001071.v1.p1.4
Item
Subjects over age 21 of either gender. *Exclusion criteria*:
boolean
C0001779 (UMLS CUI [1,1])
C0079399 (UMLS CUI [1,2])
C0680251 (UMLS CUI [2,1])
Elig.phs001071.v1.p1.5
Item
Subjects with wound healing or immunodeficiency disorders will be excluded to further minimize risk of skin biopsy.
boolean
C0151692 (UMLS CUI [1,1])
C0021051 (UMLS CUI [1,2])
C1524031 (UMLS CUI [1,3])
C0035647 (UMLS CUI [1,4])
C0150866 (UMLS CUI [1,5])
Elig.phs001071.v1.p1.6
Item
Subjects with allergy to the local anesthetic agents used in skin biopsy. Subjects who, in the opinion of the study PI, should not participate in this research study.
boolean
C0020517 (UMLS CUI [1,1])
C0002934 (UMLS CUI [1,2])
C0150866 (UMLS CUI [1,3])
C1521895 (UMLS CUI [2,1])
C0022423 (UMLS CUI [2,2])
C0679823 (UMLS CUI [2,3])
C1518422 (UMLS CUI [2,4])
C0034866 (UMLS CUI [2,5])