Diaphragmatic hernia

Metadata

Name	Diaphragmatic hernia (hernia_diaphragm)
Category	Digestive
Sex
Adult	Yes
UUID	5b4441e9-332c-4084-ac30-058978f6717b
Definition	Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.

Ontologies

Disease Ontology (DOID)	DOID_3827
GWAS Catalogue	EFO_0008561
MeSH	D006548
SNOMED-CT	39839004
FinnGen	K11_DIAHER

Key Summary Statistics

Cases from any source

Total	56410
Female (%)	31945 (57%)
Male (%)	24465 (43%)

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	476.93 (462.59,491.27)
Male	454.84 (439.56,470.12)

Incidence stratified by sex

Female	56.28 (54.26,58.29)
Male	50.76 (48.68,52.85)

Incidence stratified by age

Ages 40-44	21.99 (19.04,24.94)
Ages 45-49	34.89 (31.68,38.09)
Ages 50-54	41.89 (38.62,45.16)
Ages 55-59	53.45 (50.08,56.82)
Ages 60-64	66.26 (63.0,69.51)
Ages 65-69	78.19 (74.1,82.28)

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	326 (309,344)	590 (572,609)	932 (912,952)
CALIBER	335 (330,339)	611 (604,618)	1005 (995,

Stratified by age and Townsend deprivation status

Deprivation status	Ages 40-49	Ages 50-59	Ages 60-69
Least deprived	277(239,318)	488(451,528)	833(793,874)
Low	235(201,273)	535(495,576)	861(821,903)
Medium	309(271,351)	545(506,587)	894(851,937)
High	338(301,378)	601(560,644)	962(916,1010)
Most deprived	423(384,464)	772(726,820)	1150(1098,1204)

Stratified by age and country

Country	Ages 40-49	Ages 50-59	Ages 60-69
England	331(312,351)	600(579,622)	942(920,964)
Scotland	307(260,361)	571(522,624)	879(824,936)
Wales	304(245,373)	524(464,590)	906(837,980)

Risk factors analysis

‘Healthy’ BMI, smoking status ‘never’, or no hypertension (absence of hypertension records) were considered as reference values.

Hazard Ratio (HR) values with P < 0.0002 were considered to show significant association with disease onset after correction for multiple-testing using the Bonferroni method

N=153646, Events=402

Factor	Level	Hazard Ratio	P value
BMI	overweight	1.07 (0.82, 1.39)	0.637
BMI	obese	2.13 (1.65, 2.77)	1.06e-08
BMI	underweight	0 (0, Inf)	0.986
smoking	previous	1.48 (1.19, 1.85)	0.000498
smoking	current	2.47 (1.87, 3.26)	1.43e-10
hypertension	yes	2.21 (1.8, 2.72)	5.76e-14

Definition

UK Biobank field id	Description	Code	Value
20002	Non-cancer illness code, self-reported	1474	hiatus hernia
41202	Diagnoses - main ICD10	K44	Diaphragmatic hernia
41204	Diagnoses - secondary ICD10	K44	Diaphragmatic hernia
41200	Operative procedures - main OPCS4	G23	Repair of diaphragmatic hernia
41200	Operative procedures - main OPCS4	G23.1	Repair of oesophageal hiatus using thoracic approach
41200	Operative procedures - main OPCS4	G23.2	Repair of diaphragmatic hernia using thoracic approach NEC
41200	Operative procedures - main OPCS4	G23.3	Repair of oesophageal hiatus using abdominal approach
41200	Operative procedures - main OPCS4	G23.4	Repair of diaphragmatic hernia using abdominal approach NEC
41200	Operative procedures - main OPCS4	G23.8	Other specified repair of diaphragmatic hernia
41200	Operative procedures - main OPCS4	G23.9	Unspecified repair of diaphragmatic hernia
41210	Operative procedures - secondary OPCS4	G23	G23
41210	Operative procedures - secondary OPCS4	G23.1	G23.1
41210	Operative procedures - secondary OPCS4	G23.2	G23.2
41210	Operative procedures - secondary OPCS4	G23.3	G23.3
41210	Operative procedures - secondary OPCS4	G23.4	G23.4
41210	Operative procedures - secondary OPCS4	G23.8	G23.8
41210	Operative procedures - secondary OPCS4	G23.9	G23.9
40001	Underlying (primary) cause of death: ICD10	K44	Diaphragmatic hernia
40002	Contributory (secondary) causes of death: ICD10	K44	Diaphragmatic hernia
42040	GP clinical event records	760K011	Allison repair of oesophageal hiatus hernia
42040	GP clinical event records	760K012	Mason repair of oesophageal hiatus hernia
42040	GP clinical event records	760K100	Repair of diaphragmatic hernia using thoracic approach NEC
42040	GP clinical event records	760K300	Repair of diaphragmatic hernia using abdominal approach NEC
42040	GP clinical event records	760K400	Boerema repair of hiatus hernia
42040	GP clinical event records	760K500	Laparoscopic repair of hiatus hernia
42040	GP clinical event records	760K.00	Repair of diaphragmatic hernia
42040	GP clinical event records	760K.11	Repair of oesophageal hiatus hernia
42040	GP clinical event records	760K.12	Repair of hiatus hernia
42040	GP clinical event records	760Ky00	Other specified repair of diaphragmatic hernia
42040	GP clinical event records	760Kz00	Repair of diaphragmatic hernia NOS
42040	GP clinical event records	760L312	Hill repair of hiatus hernia and gastropexy
42040	GP clinical event records	J340.00	Diaphragmatic hernia with gangrene
42040	GP clinical event records	J341.00	Diaphragmatic hernia with obstruction
42040	GP clinical event records	J342.00	Diaphragmatic hernia - irreducible
42040	GP clinical event records	J343.00	Simple diaphragmatic hernia
42040	GP clinical event records	J344.00	Hiatus hernia with gangrene
42040	GP clinical event records	J345.00	Hiatus hernia with obstruction
42040	GP clinical event records	J346.00	Hiatus hernia - irreducible
42040	GP clinical event records	J347.00	Simple hiatus hernia
42040	GP clinical event records	J348.00	Sliding hiatus hernia
42040	GP clinical event records	J34..00	Diaphragmatic hernia
42040	GP clinical event records	J34..11	Hiatus hernia
42040	GP clinical event records	J34..12	Parasternal hernia
42040	GP clinical event records	J34..13	Retrosternal hernia
42040	GP clinical event records	J34y.00	Unspecified diaphragmatic hernia
42040	GP clinical event records	XaC1B	Simple hiatus hernia
42040	GP clinical event records	X30BB	Sliding hiatus hernia
42040	GP clinical event records	XaC19	Hiatus hernia with gangrene
42040	GP clinical event records	XE0ac	Unspecified diaphragmatic hernia
42040	GP clinical event records	XE0Cb	Antireflux gastropexy
42040	GP clinical event records	XaC1A	Hiatus hernia with obstruction
42040	GP clinical event records	XE0CW	Repair of diaphragmatic hernia
42040	GP clinical event records	XaC18	Hiatus hernia - irreducible
42040	GP clinical event records	XaJlJ	Laparoscopic repair of hiatus hernia
42040	GP clinical event records	XE0ab	Diaphragmatic hernia
42040	GP clinical event records	XE0CX	Repair of oesophageal hiatus using thoracic approach