Cystic Fibrosis

Metadata

Name	Cystic Fibrosis (CF)
Category	Endocrine
Sex
Adult	Yes
UUID	79519b36-40bb-499b-b763-053236badf75
Definition	Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food.

Ontologies

Disease Ontology (DOID)	DOID_1485
GWAS Catalogue	Orphanet_586
MeSH	D003550
SNOMED-CT	190905008
FinnGen	E4_CYSTFIBRO

Key Summary Statistics

Cases from any source

Total	147
Female (%)	122 (83%)
Male (%)	25 (17%)

Year first recorded

Cases linked in all UK Biobank sources

Cross-source concordance

Vertical bars correspond to number of cases per source/intersection; horizontal bars to left correspond to total number of cases per source.

Incidence & prevalence

Baseline prevalence stratified by sex

Female	7.54 (5.7,9.39)
Male	1.12 (0.34,1.9)

Incidence stratified by sex

Female	0.07 (0.0,0.14)
Male	0.04 (-0.02,0.1)

Incidence stratified by age

Ages 40-44	0.3 (-0.04,0.64)
Ages 45-49	0.0 (0.0,0.0)
Ages 50-54	0.0 (0.0,0.0)
Ages 55-59	0.05 (-0.05,0.15)
Ages 60-64	0.08 (-0.03,0.18)
Ages 65-69	0.0 (0.0,0.0)

Period prevalence

Methods

Comparison with general population

Sex-standardised prevalence from CALIBER study (Kuan et al. 2019)

Population	Ages 40-49	Ages 50-59	Ages 60-69
UK Biobank	5 (3,7)	6 (4,8)	3 (2,5)
CALIBER	5 (4,5)	5 (4,6)	7 (6,8)

Stratified by age and Townsend deprivation status

Deprivation status	Ages 40-49	Ages 50-59	Ages 60-69
Least deprived	3(0,9)	8(4,14)	2(1,5)
Low	7(2,15)	2(0,6)	2(1,6)
Medium	8(3,17)	6(3,12)	3(1,6)
High	3(1,9)	3(1,8)	3(1,7)
Most deprived	4(1,9)	9(5,15)	7(3,12)

Stratified by age and country

Country	Ages 40-49	Ages 50-59	Ages 60-69
England	5(3,7)	4(3,7)	3(2,4)
Scotland	7(2,18)	15(8,25)	6(2,12)
Wales	0(NaN,NaN)	2(0,9)	6(2,14)

Definition

UK Biobank field id	Description	Code	Value
41202	Diagnoses - main ICD10	E84	Cystic fibrosis
41204	Diagnoses - secondary ICD10	E84	Cystic fibrosis
40001	Underlying (primary) cause of death: ICD10	E84	Cystic fibrosis
40002	Contributory (secondary) causes of death: ICD10	E84	Cystic fibrosis
42040	GP clinical event records	66k0.00	Cystic fibrosis annual review
42040	GP clinical event records	66k..00	Cystic fibrosis monitoring
42040	GP clinical event records	C10N100	Cystic fibrosis related diabetes mellitus
42040	GP clinical event records	C370000	Cystic fibrosis with no meconium ileus
42040	GP clinical event records	C370100	Cystic fibrosis with meconium ileus
42040	GP clinical event records	C370111	Meconium ileus in cystic fibrosis
42040	GP clinical event records	C370200	Cystic fibrosis with pulmonary manifestations
42040	GP clinical event records	C370300	Cystic fibrosis with intestinal manifestations
42040	GP clinical event records	C370400	Arthropathy in cystic fibrosis
42040	GP clinical event records	C370500	Cystic fibrosis with distal intestinal obstruction syndrome
42040	GP clinical event records	C370700	Liver disease due to cystic fibrosis
42040	GP clinical event records	C370800	Cystic fibrosis related cirrhosis
42040	GP clinical event records	C370900	Exacerbation of cystic fibrosis
42040	GP clinical event records	C370.00	Cystic fibrosis
42040	GP clinical event records	C370.11	Fibrocystic disease
42040	GP clinical event records	C370.12	Mucoviscidosis
42040	GP clinical event records	C370y00	Cystic fibrosis with other manifestations
42040	GP clinical event records	C370z00	Cystic fibrosis NOS
42040	GP clinical event records	XaXi9	Cystic fibrosis related cirrhosis
42040	GP clinical event records	XaMzI	Cystic fibrosis related diabetes mellitus
42040	GP clinical event records	XaBDb	Cystic fibrosis with other manifestations
42040	GP clinical event records	XaQvd	Cystic fibrosis annual review
42040	GP clinical event records	XaREX	Arthropathy in cystic fibrosis
42040	GP clinical event records	XaREZ	Cystic fibrosis with distal intestinal obstruction syndrome
42040	GP clinical event records	XaZr7	Exacerbation of cystic fibrosis
42040	GP clinical event records	XaREa	Liver disease due to cystic fibrosis
42040	GP clinical event records	XaQvc	Cystic fibrosis monitoring
22131	Doctor diagnosed cystic fibrosis	1	True
22171	Recent medication for cystic fibrosis	1	True