Elig.phs001178.v1.p1.1
Item
Included in the study are trios or larger families with a diagnosed DSD for whom no genetic etiology has been uncovered by the clinical teams. Exceptionally, singletons were included when parents were not available (e.g. adoption) AND previous genetic testing had identified a single candidate variant in a gene known to cause DSD in a recessive fashion, looking for a second structural or non-exonic allele. Patients of all ethnicities, races, sexes, genders were eligible to be included. Only patients for whom standardized phenotypic information was available were included.
boolean
C1512693 (UMLS CUI [1,1])
C0036875 (UMLS CUI [1,2])
C1314792 (UMLS CUI [1,3])
C0205160 (UMLS CUI [1,4])
C0314603 (UMLS CUI [1,5])
C0015576 (UMLS CUI [1,6])
C0439091 (UMLS CUI [1,7])
C0205449 (UMLS CUI [1,8])
C1515981 (UMLS CUI [1,9])
C0205375 (UMLS CUI [1,10])
C1955348 (UMLS CUI [1,11])
C0031437 (UMLS CUI [1,12])
C1512693 (UMLS CUI [2,1])
C1313913 (UMLS CUI [2,2])
C3844674 (UMLS CUI [2,3])
C1515981 (UMLS CUI [2,4])
C1314792 (UMLS CUI [2,5])
C0205447 (UMLS CUI [2,6])
C0017361 (UMLS CUI [2,7])
C0036875 (UMLS CUI [2,8])
C0205375 (UMLS CUI [2,9])
C1955348 (UMLS CUI [2,10])
C0031437 (UMLS CUI [2,11])
Elig.phs001178.v1.p1.2
Item
Population studied includes patients with 46,XX DSD and 46,XY DSD, regardless of endocrine and/or developmental phenotype:
boolean
C1512693 (UMLS CUI [1,1])
C0036875 (UMLS CUI [1,2])
C0450371 (UMLS CUI [1,3])
C1518602 (UMLS CUI [1,4])
C1710693 (UMLS CUI [1,5])
Elig.phs001178.v1.p1.3
Item
46,XY disorders of testicular development: complete gonadal dysgenesis (Swyer syndrome), partial gonadal dysgenesis, testicular regression, ovotesticular DSD
boolean
C1512693 (UMLS CUI [1,1])
C2936694 (UMLS CUI [1,2])
C1512693 (UMLS CUI [2,1])
C4510744 (UMLS CUI [2,2])
C1512693 (UMLS CUI [3,1])
C0266427 (UMLS CUI [3,2])
C1512693 (UMLS CUI [4,1])
C1710693 (UMLS CUI [4,2])
C1515981 (UMLS CUI [4,3])
C2748895 (UMLS CUI [4,4])
Elig.phs001178.v1.p1.4
Item
suspected 46,XY disorders of androgen & other hormone biosynthesis or action (e.g. androgen resistance)
boolean
C1512693 (UMLS CUI [1,1])
C0277540 (UMLS CUI [1,2])
C5679870 (UMLS CUI [1,3])
C1515981 (UMLS CUI [1,4])
C0277540 (UMLS CUI [1,5])
C0596715 (UMLS CUI [1,6])
C1512693 (UMLS CUI [2,1])
C0277540 (UMLS CUI [2,2])
C3900198 (UMLS CUI [2,3])
C1515981 (UMLS CUI [2,4])
C0277540 (UMLS CUI [2,5])
C1278757 (UMLS CUI [2,6])
Elig.phs001178.v1.p1.5
Item
46,XX disorders of ovarian development, including gonadal dysgenesis and ovotesticular DSD
boolean
C1512693 (UMLS CUI [1,1])
C0450371 (UMLS CUI [1,2])
C0029928 (UMLS CUI [1,3])
C0678723 (UMLS CUI [1,4])
Elig.phs001178.v1.p1.6
Item
suspected 46,XX excess of androgen exposure (of fetal, placental, maternal, or environmental origin)
boolean
C1512693 (UMLS CUI [1,1])
C0277540 (UMLS CUI [1,2])
C5679876 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C0277540 (UMLS CUI [2,2])
C0235461 (UMLS CUI [2,3])
C3494751 (UMLS CUI [2,4])
Elig.phs001178.v1.p1.7
Item
other syndromes of unknown etiology: cloacal exstrophy, vaginal atresia, and other syndromic DSD (XX and XY).
boolean
C1512693 (UMLS CUI [1,1])
C0345217 (UMLS CUI [1,2])
C1512693 (UMLS CUI [2,1])
C1321884 (UMLS CUI [2,2])
C1512693 (UMLS CUI [3,1])
C0205394 (UMLS CUI [3,2])
C5679873 (UMLS CUI [3,3])
C1512693 (UMLS CUI [4,1])
C0205394 (UMLS CUI [4,2])
C5680224 (UMLS CUI [4,3])