has material basis in germline mutation in CFTR pancreas disorder respiratory system disorder autosomal recessive disease cystic fibrosis https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/7432 https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis https://www.malacards.org/card/cystic_fibrosis CF MEDGEN:41393 mucoviscidosis MedDRA:10011762 ICD10WHO:E84 pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis Orphanet:586 Diagnosis of CF requires **one clinical indicator** (positive newborn screen, symptoms consistent with CF, or family history) **plus one functional/genetic indicator**: 1. Sweat chloride concentration ≥60 mmol/L, or 2. Identification of two CF-causing CFTR pathogenic variants, or 3. Abnormal nasal potential difference measurement See also CFTR-related disorders (MONDO:7770004), which involve CFTR dysfunction limited to a single organ system and do not meet CF diagnostic criteria. NORD:1026 cystic fibrosis lung disease, modifier of MESH:D003550 ICD10CM:E84 cystic fibrosis DOID:1485 NANDO:1201021 NCIT:C2975 NANDO:2200205 SCTID:190905008 OMIM:219700 fibrocystic disease of the pancreas NANDO:2100035 MONDO:0009061 GARD:0006233 NANDO:1200922 ICD9:277.0 Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations. icd11.foundation:514403112 UMLS:C0010674 obsolete hereditary biliary tract disease obsolete rare male fertility disorder with obstructive azoospermia obsolete rare genetic disorder with obstructive azoospermia