Inclusion criteria are: elevated sweat chloride levels >40mM, pulmonary dysfunction (lung infections, reduced FEV1, or other respiratory symptoms), and lack of detectable disease-causing mutations in CFTR gene. Family members of individuals with these criteria are also included.
Item
Inclusion criteria are: elevated sweat chloride levels >40mM, pulmonary dysfunction (lung infections, reduced FEV1, or other respiratory symptoms), and lack of detectable disease-causing mutations in CFTR gene. Family members of individuals with these criteria are also included.
boolean
C1512693 (UMLS CUI [1,1])
C4746589 (UMLS CUI [1,2])
C1709770 (UMLS CUI [1,3])
C5208133 (UMLS CUI [1,4])
C0086282 (UMLS CUI [1,5])
C3897171 (UMLS CUI [1,6])
Exclusion criteria are: mutations in the CA12 gene or ENaC subunit genes which are predicted to be pathogenic.
Item
Exclusion criteria are: mutations in the CA12 gene or ENaC subunit genes which are predicted to be pathogenic.
boolean
C0680251 (UMLS CUI [1,1])
C1413041 (UMLS CUI [1,2])
C0026882 (UMLS CUI [1,3])
C0384156 (UMLS CUI [1,4])
C1711351 (UMLS CUI [1,5])
C0681842 (UMLS CUI [1,6])
C3816499 (UMLS CUI [1,7])