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Cystic Fibrosis (MONDO:0009061)

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.

Overview

PH14 Cystic Fibrosis

Clinical-Coded Phenotype

Disease or syndrome

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Last updated 2021-10-06 Eleanor L Axson, Jennifer K Quint

PH40 Cystic Fibrosis

Clinical-Coded Phenotype

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Last updated 2021-10-06 Kuan V, Denaxas S, Gonzalez-Izquierdo A, …

PH416 Cystic Fibrosis

Clinical-Coded Phenotype

Disease or syndrome

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cystic fibrosis

Last updated 2021-10-06 Tim Doran, Evangelos Kontopantelis, Jose M …

PH1691 Chronic paediatric conditions: Cystic Fibrosis

Clinical-Coded Phenotype

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Last updated 2025-01-19 Swann OV, Williams TC, Fraser LK, …

PH3390 Cystic Fibrosis

OpenCodelists Phenotype

Last updated 2026-01-26 OpenSAFELY

PH3391 Cystic Fibrosis SNOMED

OpenCodelists Phenotype

Last updated 2026-01-26 OpenSAFELY

Results

PH14 Cystic Fibrosis

PH40 Cystic Fibrosis

PH416 Cystic Fibrosis

PH1691 Chronic paediatric conditions: Cystic Fibrosis

PH3390 Cystic Fibrosis

PH3391 Cystic Fibrosis SNOMED

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