has material basis in germline mutation in CFTR hereditary disease CFTR-related disorder MONDO:7770004 MEDGEN:1854862 UMLS:C5924204 CFTR-RD A disease associated with CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction that does not fulfill the diagnostic criteria for cystic fibrosis (CF). CFTR-related disorders are characterized by clinical evidence of CFTR dysfunction limited to a single organ system, a sweat chloride concentration below the CF diagnostic threshold (typically less than 60 mmol/L), and CFTR genotypes that often include at least one variant not classified as CF-causing. Recognized CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis. A CFTR-related disorder is defined as a clinical entity with evidence of CFTR dysfunction in at least one organ system that **does not meet** the diagnostic criteria for CF. Typically this means: - Sweat chloride below the CF diagnostic threshold (<60 mmol/L) - Clinical involvement limited to a single organ system - CFTR genotype that includes at least one variant not classified as CF-causing See 'cystic fibrosis' (MONDO:0009061) for diagnosis criteria for CF. CFTR-related disease