Atrioventricular septal defect

Q17_AVSD

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q21.2 Hospital discharge: ICD-9 — 7456[B-C]\|7458X Hospital discharge: excluded ICD-10 — Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875 Hospital discharge: excluded ICD-9 — 758\|7595\|75683 Cause of death: ICD-10 — Q21.2 Cause of death: ICD-9 — 7456[B-C]\|7458X Cause of death: excluded ICD-10 — Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875 Cause of death: excluded ICD-9 — 758\|7595\|75683 2 out of 7 registries used, show all original rules.	144
4. Check minimum number of events None	144
5. Include endpoints None	144
6. Filter based on genotype QC (FinnGen only)	144

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF7

NAME	Q17_AVSD
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q212
HD_ICD_9	7456[B-C]\|7458X
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL	Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875
HD_ICD_9_EXCL	758\|7595\|75683
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q212
COD_ICD_9	7456[B-C]\|7458X
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL	Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875
COD_ICD_9_EXCL	758\|7595\|75683
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Atrioventricular septal defect based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	2000	1168	826
Only index persons	1460	841	619
Unadjusted period prevalence (%)
Whole population	0.03	0.03	0.02
Only index persons	0.03	0.03	0.02
Median age at first event (years)
Whole population	4.19	4.72	3.16
Only index persons	8.98	10.27	7.24

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	144	90	54
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	28.38	24.60	34.67

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

Matched cohort

Matched cases
132: Matched controls
1321

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q21.20

ICD-10 Finland

Atrial septal defect of primum type

+∞

63.8

Q21.21

ICD-10 Finland

Atrioventricular duct

+∞

58.8

FM1BE

NOMESCO Finland

Cardiac ultrasound examination through oesophagus

33.3

47.6

Q21.10

ICD-10 Finland

Persistent ostium secundum

64.7

45.9

201

Kela drug reimbursment

Chronic cardiac insufficiency

59.7

40.9

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

13.0

32.8

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

11.0

31.8

133

FXA00

NOMESCO Finland

Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure

26.8

31.5

XF404

NOMESCO Finland

Ambulatory ECG

15.4

26.7

TFC00

NOMESCO Finland

Catheterisation of right atrium or ventricle

107.0

24.7

C01AA05

ATC

digoxin; systemic

30.6

23.5

Q21.19

ICD-10 Finland

Atrial septal defect NOS

64.0

23.0

Q21.29

ICD-10 Finland

Atrioventricular septal defect UNS

+∞

22.5

XF620

NOMESCO Finland

Examination of circulation with color method

137.9

22.3

B01AA03

ATC

warfarin; systemic

10.5

22.3

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

8.6

20.7

Q21.2

ICD-10 Finland

Atrioventricular septal defect

+∞

19.2

FFC22

NOMESCO Finland

Percutaneous transluminal closure of ostium secundum type ASD

116.8

19.1

I34.09

ICD-10 Finland

Mitral (valve) insufficiency

30.4

19.1

C03CA01

ATC

furosemide; systemic

6.7

17.7

117

XF400

NOMESCO Finland

ECG with 12 standard connections

6.3

17.2

127

WX872

NOMESCO Finland

Intensive care

16.6

16.9

GD1AA

NOMESCO Finland

Thorax X-ray examination

4.9

16.4

317

Q21.00

ICD-10 Finland

Multiple ventricular septal defect

68.8

16.2

FN1AC

NOMESCO Finland

Angiography of heart and/or coronary arteries

6.9

16.0

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

6.2

15.5

108

Congenital heart failure surgery

64.4

15.2

C03DA01

ATC

spironolactone; oral

9.8

14.9

7456C

ICD-9 Finland

Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]

+∞

14.9

FM1DG

NOMESCO Finland

Very extensive MRI examination of heart with high intesity magnet

48.3

14.5

I48

ICD-10 Finland

Atrial fibrillation and flutter

7.3

14.4

Q21.11

ICD-10 Finland

Paten or persistent foramen ovale

27.4

14.2

FM1DE

NOMESCO Finland

Doppler ultrasound examination of heart

7.5

13.4

ZXD10

NOMESCO Finland

Scheduled procedure

4.0

13.0

325

Q90.0

ICD-10 Finland

Trisomy 21, meiotic nondisjunction

142.9

12.7

XF402

NOMESCO Finland

ECG with work load test

7.3

12.5

Z2221

NOMESCO Finland

Medical doctor

4.1

12.2

236

7455A

ICD-9 Finland

Bulbus cordis anomalies and anomalies of cardiac septal closure, Ostium secundum type atrial septal defect

+∞

11.6

Q90.9

ICD-10 Finland

Down syndrome, unspecified

130.9

11.6

TFP20

NOMESCO Finland

Cardiodefibrillation

11.7

11.5

TPH04

NOMESCO Finland

Cathetrisation of vein

4.5

11.4

140

I34.00

ICD-10 Finland

Mitral (valve) incompetence NOS or of specified cause, except rheumatic

47.7

11.1

FFC00

NOMESCO Finland

Suture of ostium secundum type ASD

31.0

11.0

Catheterization and pressure measurement of the right side of the heart

+∞

10.5

XFP20

NOMESCO Finland

Check up of cardiac pacemaker

11.5

10.4

207

Kela drug reimbursment

Chronic arrhythmias

6.6

10.0

Q21.09

ICD-10 Finland

Ventricular septal defect NOS

28.5

10.0

Catheterization and pressure measurement of the left side of the heart

59.4

9.8

Z95.0

ICD-10 Finland

Presence of electronic cardiac devices

13.8

9.6

Q21.08

ICD-10 Finland

Other specifed ventricular septal defect

19.3

9.6

Q20.48

ICD-10 Finland

Single ventricle

107.3

9.5

7580A

ICD-9 Finland

Chromosomal anomalies, Down's syndrome

+∞

9.5

74646

ICD-8 Finland

Congenital anomalies of heart, Defectus septi atriorum, ostium primum

+∞

9.5

FFD20

NOMESCO Finland

Closure of atrio-ventricular septal defect using patch

+∞

9.5

ZXE40

NOMESCO Finland

More than seven and less than nine hours

15.2

9.4

WX408

NOMESCO Finland

General anesthesy, balanced

3.4

9.3

248

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

6.3

9.0

ZXE30

NOMESCO Finland

More than five and less than seven hours

6.9

8.9

C07AA07

ATC

sotalol; systemic

17.8

8.7

FN1BC

NOMESCO Finland

Extensive angiography of hear and/or coronary arteries

10.5

8.6

AF1

Surgery of congenital heart defect

+∞

8.4

Q21.28

ICD-10 Finland

Atrioventricular septal defect

+∞

8.4

Z45.0

ICD-10 Finland

Adjustment and management of cardiac devices

15.8

8.4

C07AB07

ATC

bisoprolol; oral

3.1

8.2

257

ZXD05

NOMESCO Finland

Urgent procedure

3.2

8.2

243

I63.9

ICD-10 Finland

Cerebral infarction, unspecified

8.7

8.2

FM2CE

NOMESCO Finland

8.7

8.2

TFB00

NOMESCO Finland

Cathetrisation of pulmonal artery

23.8

8.2

ZX120

NOMESCO Finland

Intravenous

5.4

8.0

ZXE10

NOMESCO Finland

More than one and less than three hours

3.0

8.0

284

J18.9

ICD-10 Finland

Pneumonia, unspecified

3.8

7.9

119

TPH07

NOMESCO Finland

Cathetrisation of artery

4.7

7.9

K78

ICPC

Atrial fibrillation/flutter

8.9

7.9

ZXE20

NOMESCO Finland

More than three and less than five hours

3.9

7.4

101

7456B

ICD-9 Finland

Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[DEFECTUS SEPTI ATRIORUM, OSTII PRIMII]

+∞

7.4

WX882

NOMESCO Finland

High dependency care

5.8

7.3

I47.2

ICD-10 Finland

Ventricular tachycardia

21.4

7.2

XF622

NOMESCO Finland

Measurement of minute volume of heart

31.9

7.2

WX892

NOMESCO Finland

Monitored bed care

5.2

7.2

XFE00

NOMESCO Finland

Epicardial ultrasonography

14.8

7.0

ZXE50

NOMESCO Finland

More than nine and less than 12 hours

14.8

7.0

I50.9

ICD-10 Finland

Heart failure, unspecified

5.4

6.9

504

Kela drug reimbursment

Conditions requiring daily forced enteral nutrition

17.9

6.9

I36.1

ICD-10 Finland

Nonrheumatic tricuspid (valve) insufficiency

42.3

6.8

Q25.0

ICD-10 Finland

Patent ductus arteriosus

23.9

6.8

WX704

NOMESCO Finland

Intubation

4.9

6.6

Z01.0

ICD-10 Finland

Examination of eyes and vision

3.4

6.6

128

WX404

NOMESCO Finland

Intravenous generell anesthesy

3.0

6.6

184

XA800

NOMESCO Finland

Neuropsychological investigation

6.1

6.6

I69.3

ICD-10 Finland

Sequelae of cerebral infarction

7.2

6.6

C01BD01

ATC

amiodarone; systemic

15.3

6.5

I50.1

ICD-10 Finland

Left ventricular failure

15.3

6.5

UDC00

NOMESCO Finland

Ear microscopy

5.0

6.5

Q21.30

ICD-10 Finland

Tetralogy of Fallot

73.2

6.5

Q21.9

ICD-10 Finland

Congenital malformation of cardiac septum, unspecified

73.2

6.5

74663

ICD-8 Finland

Congenital anomalies of heart, Stenosis valvulae pulmonalis

73.2

6.5

C09AA02

ATC

enalapril; systemic

4.0

6.4

AN1

Coronary angiography

5.5

6.3

Q22.1

ICD-10 Finland

Congenital pulmonary valve stenosis

28.1

6.3

74639

ICD-8 Finland

Congenital anomalies of heart, Defectus septi ventriculorum

+∞

6.3

AP3

Catheterization of the right and left side of the heart

+∞

6.3

I27.0

ICD-10 Finland

Primary pulmonary hypertension

+∞

6.3

74647

ICD-8 Finland

Congenital anomalies of heart, Ostium atrioventriculare commune

+∞

6.3

Z3231

NOMESCO Finland

Registered nurse

2.7

6.2

263

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_AVSD and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_AVSD	4.493 [3.29, 6.14]	< 0.001
Birth year	0.994 [0.99, 1.0]	0.172

During the follow-up period (1.1.1998 — 31.12.2019), 95 out of 688 females with Q17_AVSD died.

Males

Parameter	HR [95% CI]	p-value
Q17_AVSD	4.775 [3.37, 6.76]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.003

During the follow-up period (1.1.1998 — 31.12.2019), 82 out of 494 males with Q17_AVSD died.

Mortality risk

Mortality risk for people of age

years, who have Q17_AVSD.

N-year risk	Females	Males
1	0.368%	0.978%
5	2.179%	6.07%
10	6.341%	13.382%
15	11.155%	23.091%
20	19.056%	36.039%

Relationships between endpoints

↥

Index endpoint: Q17_AVSD – Atrioventricular septal defect

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Atrioventricular septal defect

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints