Risteys · Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE

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 — Q87 Cause of death: ICD-10 — Q87 2 out of 7 registries used, show all original rules.	619
4. Check minimum number of events None	619
5. Include endpoints None	619
6. Filter based on genotype QC (FinnGen only)	619

	All	Female	Male
Number of individuals
Whole population	5896	2910	2971
Only index persons	4570	2275	2295
Unadjusted period prevalence (%)
Whole population	0.08	0.08	0.08
Only index persons	0.09	0.08	0.09
Median age at first event (years)
Whole population	7.85	8.55	7.03
Only index persons	11.81	12.91	10.72

	All	Female	Male
Number of individuals	619	332	287
Unadjusted period prevalence (%)	0.12	0.11	0.13
Median age at first event (years)	22.25	23.53	20.76

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
563: Matched controls
5630

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q87.4

ICD-10 Finland

Marfan syndrome

+∞

200.2

180

Z31.5

ICD-10 Finland

Genetic counselling

23.5

162.5

248

182

Q87.88

ICD-10 Finland

Other specified congenital malformation syndromes, not elsewhere classified

+∞

121.3

112

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

8.5

73.5

181

298

I71.2

ICD-10 Finland

Thoracic aortic aneurysm, without mention of rupture

46.9

66.6

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

5.9

59.8

198

474

WX408

NOMESCO Finland

General anesthesy, balanced

4.3

52.8

269

991

ZXD10

NOMESCO Finland

Scheduled procedure

3.8

47.7

312

1392

ZXE10

NOMESCO Finland

More than one and less than three hours

3.8

46.9

287

1208

ZXE20

NOMESCO Finland

More than three and less than five hours

5.4

46.4

158

376

Q87.09

ICD-10 Finland

Other congenital malformations that mainly affect the appearance of the face

484.3

45.9

Q87.80

ICD-10 Finland

Alport syndrome

+∞

45.4

XF400

NOMESCO Finland

ECG with 12 standard connections

4.7

44.3

179

509

Z2221

NOMESCO Finland

Medical doctor

3.7

43.0

261

1068

I71.9

ICD-10 Finland

Aortic aneurysm of unspecified site, without mention of rupture

97.5

41.4

I35.1

ICD-10 Finland

Aortic (valve) insufficiency

14.6

40.8

Z01.0

ICD-10 Finland

Examination of eyes and vision

4.1

39.0

180

572

Q87.14

ICD-10 Finland

Noonan's syndrome

+∞

37.9

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.3

37.8

266

1186

Z03.5

ICD-10 Finland

Observation for other suspected cardiovascular diseases

5.9

36.4

111

226

R4110

NOMESCO Finland

Physiotherapy

3.4

35.6

224

907

Z01.1

ICD-10 Finland

Examination of ears and hearing

4.2

35.6

159

485

FXA00

NOMESCO Finland

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

10.3

35.5

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.7

35.4

136

358

FM1BE

NOMESCO Finland

Cardiac ultrasound examination through oesophagus

7.7

35.2

129

PD5CG

NOMESCO Finland

Extensive MRI examination of thoracal and abdominal aortta with high intensity magnet

101.5

35.2

F83

ICD-10 Finland

Mixed specific developmental disorders

10.2

32.6

Q87.21

ICD-10 Finland

Klippel-Trénaunay-Weber syndrome

+∞

31.5

ZXE00

NOMESCO Finland

One hour or less

2.9

31.4

298

1568

WX404

NOMESCO Finland

Intravenous generell anesthesy

3.2

30.3

203

841

PD5BD

NOMESCO Finland

Extensive CT of aorta

28.5

29.7

B01AA03

ATC

warfarin; systemic

5.4

29.7

207

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

5.2

29.3

219

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

4.9

29.0

103

246

F70.0

ICD-10 Finland

Mild mental retardation, With the statement of no, or minimal, impairment of behaviour

23.8

28.2

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

5.5

27.9

184

R62.0

ICD-10 Finland

Delayed milestone

8.4

27.0

Z3229

NOMESCO Finland

Other healthcare associate professional

4.5

27.0

104

269

Z3226

NOMESCO Finland

Physiotherapist

3.1

27.0

179

727

ZXA10

NOMESCO Finland

Bilateral

3.4

26.9

150

536

H01AC01

ATC

somatropin; parenteral

9.4

26.1

FCA60

NOMESCO Finland

Resection of aortic root and ascending aorta with reimplantation of coronary arteries and use of composite graft with mechanical valve prosthesis

272.0

25.9

Q87.19

ICD-10 Finland

Congenital malformation syndromes predominantly associated with short stature

+∞

25.2

Q87.06

ICD-10 Finland

Velocardiofacial syndrome

+∞

25.2

I71.00

ICD-10 Finland

Dissecting aneurysm of aorta (ruptured) [any part]

+∞

24.1

Z3231

NOMESCO Finland

Registered nurse

2.6

24.1

233

1184

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.3

24.0

136

488

F79.0

ICD-10 Finland

Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour

16.9

24.0

H90.3

ICD-10 Finland

Sensorineural hearing loss, bilateral

5.1

23.8

174

H27.1

ICD-10 Finland

Dislocation of lens

130.3

23.8

H52.1

ICD-10 Finland

Myopia

6.2

23.6

118

I34.1

ICD-10 Finland

Mitral (valve) prolapse

14.8

23.4

Z95.2

ICD-10 Finland

Presence of prosthetic heart valve

21.2

23.3

I71.09

ICD-10 Finland

Aortic dissection [regardless of location]

67.8

23.0

WX872

NOMESCO Finland

Intensive care

9.6

22.8

WX002

NOMESCO Finland

Sedation and analgesia

3.4

22.7

122

418

XF404

NOMESCO Finland

Ambulatory ECG

4.6

22.5

199

TPH04

NOMESCO Finland

Cathetrisation of vein

3.0

22.3

149

596

PG1DE

NOMESCO Finland

Other extensive ultrasound examination of artery

10.3

22.2

H52.2

ICD-10 Finland

Astigmatism

7.8

21.8

ZXE30

NOMESCO Finland

More than five and less than seven hours

5.2

21.5

146

ZXA00

NOMESCO Finland

Right side

2.9

21.2

148

606

KH1AE

NOMESCO Finland

Urinary tract ultrasound examination

5.4

20.6

130

Z2446

NOMESCO Finland

Social worker

3.3

20.4

116

411

C03CA01

ATC

furosemide; systemic

3.7

20.4

295

Q89.7

ICD-10 Finland

Multiple congenital malformations, not elsewhere classified

+∞

19.9

ZXE40

NOMESCO Finland

More than seven and less than nine hours

8.4

19.9

I71.01

ICD-10 Finland

Aneurysm of the descending aorta

206.6

19.7

FM1DE

NOMESCO Finland

Doppler ultrasound examination of heart

4.4

19.5

182

101

Kela drug reimbursment

Anterior pituitary hypofunction

9.9

19.4

H90.0

ICD-10 Finland

Conductive hearing loss, bilateral

20.9

19.2

Q87.8

ICD-10 Finland

Other specified congenital malformation syndromes, not elsewhere classified

+∞

18.8

Q87.16

ICD-10 Finland

Mulibrey nanism

+∞

18.8

C07AB07

ATC

bisoprolol; oral

2.5

18.7

180

884

201

Kela drug reimbursment

Chronic cardiac insufficiency

8.4

18.6

UDC00

NOMESCO Finland

Ear microscopy

4.1

18.4

202

TPH07

NOMESCO Finland

Cathetrisation of artery

3.7

18.4

267

ZXD05

NOMESCO Finland

Urgent procedure

2.4

18.3

204

1080

C01AA05

ATC

digoxin; systemic

10.6

18.1

Q22.1

ICD-10 Finland

Congenital pulmonary valve stenosis

34.1

18.1

Z01.8

ICD-10 Finland

Other specified special examinations

2.7

18.1

146

649

DAX00

NOMESCO Finland

Adjustment or review of hearing aid

12.5

18.0

NK6MA

NOMESCO Finland

Measurement of bone age from hand and elbow using X-ray

4.6

18.0

156

DFF00

NOMESCO Finland

Pure tone audiometry

4.5

18.0

161

ZXA05

NOMESCO Finland

Left side

2.8

17.8

129

536

7598B

ICD-9 Finland

Other and unspecified congenital anomalies, Other specified anomalies[SYNDROMA MARFAN]

+∞

17.8

Q87.30

ICD-10 Finland

Syndrome Beckwith-Wiedemann

+∞

17.8

F82

ICD-10 Finland

Specific developmental disorder of motor function

8.4

17.3

R2130

NOMESCO Finland

Counselling and guidance which enhance independent living

3.3

16.9

326

Q82.50

ICD-10 Finland

Naevus flammeus

+∞

16.7

RL140

NOMESCO Finland

11.2

16.6

SBB00

NOMESCO Finland

Fotograf of mouth and teeth

3.8

16.5

211

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

2.5

16.1

142

659

P85

ICPC

Mental retardation

12.7

16.0

N18.9

ICD-10 Finland

Chronic kidney disease, unspecified

9.1

15.9

J18.9

ICD-10 Finland

Pneumonia, unspecified

2.7

15.8

125

544

504

Kela drug reimbursment

Conditions requiring daily forced enteral nutrition

6.4

15.6

WX402

NOMESCO Finland

General anaesthesia

2.5

15.6

145

688

WX892

NOMESCO Finland

Monitored bed care

3.7

15.5

206

QA4S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in face

20.7

15.2

301

Kela drug reimbursment

Growth hormone

11.2

15.1

ZXE50

NOMESCO Finland

More than nine and less than 12 hours

9.3

15.1

UGC02

NOMESCO Finland

Rigid bronchoscopy

17.0

14.9

SAA04

NOMESCO Finland

Special inverstigation of mouth

3.2

14.8

289

75988

ICD-8 Finland

Congenital syndromes affecting multiple systems, Aliae definitae

+∞

14.6

WYA30

NOMESCO Finland

Preparations for expected poor cooperation

3.1

14.6

298

XFE00

NOMESCO Finland

Epicardial ultrasonography

10.4

14.6

B01AB05

ATC

enoxaparin; parenteral

2.5

14.6

129

596

ZXD20

NOMESCO Finland

Day surgery

3.0

14.4

330

FM2CE

NOMESCO Finland

4.3

14.4

135

DCA20

NOMESCO Finland

Insertion of ventilating tube through tympanic membrane

3.1

14.3

290

R4130

NOMESCO Finland

Speech therapy

5.5

14.2

Q35.1

ICD-10 Finland

Cleft hard palate

43.6

14.2

C09CA01

ATC

losartan; oral

2.9

14.0

350

C07AB03

ATC

atenolol; systemic

8.3

13.7

Q21.08

ICD-10 Finland

Other specifed ventricular septal defect

8.3

13.7

I34.09

ICD-10 Finland

Mitral (valve) insufficiency

8.7

13.7

Q87.26

ICD-10 Finland

VATER association

+∞

13.6

Q87.0

ICD-10 Finland

Congenital malformation syndromes predominantly affecting facial appearance

+∞

13.6

Q21.10

ICD-10 Finland

Persistent ostium secundum

6.7

13.6

I48

ICD-10 Finland

Atrial fibrillation and flutter

3.5

13.5

207

TFB00

NOMESCO Finland

Cathetrisation of pulmonal artery

16.7

13.5

Q53.2

ICD-10 Finland

Undescended testicle, bilateral

26.4

13.4

SPAT1229

SPAT

Assessment of need for aid

5.4

13.1

A12AA04

ATC

calcium carbonate; oral

9.1

13.1

R5130

NOMESCO Finland

Repair work or maintenance done on the aid

9.7

13.1

TJD20

NOMESCO Finland

Change of gastrostomy tube

10.4

13.1

R4120

NOMESCO Finland

Occupational therapy

3.8

13.1

158

Z96.1

ICD-10 Finland

Presence of intraocular lens

5.0

13.0

EBA15

NOMESCO Finland

Extraction of large number of teeth

5.4

13.0

KA1AE

NOMESCO Finland

Kidney ultrasound examination

8.3

12.9

L28

ICPC

Limited function/disability (L)

3.3

12.9

221

R1260

NOMESCO Finland

Evaluation of communicative skills

9.3

12.8

TFP20

NOMESCO Finland

Cardiodefibrillation

5.1

12.8

XX9AW

NOMESCO Finland

Production of copy from X-ray picture

6.2

12.7

WZC10

NOMESCO Finland

Extensive specialist consultion with written report

4.1

12.7

131

Q35.71

ICD-10 Finland

Submucous cleft palate

71.4

12.6

Q25.0

ICD-10 Finland

Patent ductus arteriosus

9.0

12.6

PD5CM

NOMESCO Finland

Extensive MRI examination of thoracal and abdominal aorta with 3 Tesla magnet

+∞

12.5

H50.0

ICD-10 Finland

Convergent concomitant strabismus

8.7

12.4

Q21.00

ICD-10 Finland

Multiple ventricular septal defect

10.8

12.3

H90.6

ICD-10 Finland

Mixed conductive and sensorineural hearing loss, bilateral

14.7

12.3

XA800

NOMESCO Finland

Neuropsychological investigation

3.3

12.3

205

H65.3

ICD-10 Finland

Chronic mucoid otitis media

3.2

12.3

233

XF640

NOMESCO Finland

10.4

12.1

JDB10

NOMESCO Finland

Percutaneous gastrostomy

10.4

12.1

NA7EA

NOMESCO Finland

Scoliosis X-ray examination

7.0

12.0

123

Kela drug reimbursment

Chronic disorders of vitamin D metabolism

7.0

12.0

UGC12

NOMESCO Finland

Flexible bronchoscopy

4.4

12.0

103

RS222

NOMESCO Finland

8.2

11.9

GD1AD

NOMESCO Finland

Thorax CT examination

5.8

11.8

I71.4

ICD-10 Finland

Abdominal aortic aneurysm, without mention of rupture

16.8

11.7

Z95.8

ICD-10 Finland

Presence of other cardiac and vascular implants and grafts

30.7

11.7

I50.9

ICD-10 Finland

Heart failure, unspecified

4.7

11.7

AJ1

Reconstruction of the aortic base, eg composite graft, incl. valve saving operation

66.2

11.6

C03DA01

ATC

spironolactone; oral

3.8

11.6

137

XF402

NOMESCO Finland

ECG with work load test

3.6

11.5

159

Q87.28

ICD-10 Finland

Congenital malformation syndromes predominantly involving limbs

+∞

11.5

Q87.04

ICD-10 Finland

Syndrome Robin

+∞

11.5

Q87.1

ICD-10 Finland

Congenital malformation syndromes predominantly associated with short stature

+∞

11.5

Q87.15

ICD-10 Finland

Prader-Willi syndrome

+∞

11.5

Q87.5

ICD-10 Finland

Other congenital malformation syndromes with other skeletal changes

+∞

11.5

7597A

ICD-9 Finland

Other and unspecified congenital anomalies, Multiple congenital anomalies, so described

+∞

11.5

D82.1

ICD-10 Finland

Di George syndrome

+∞

11.5

Q87.03

ICD-10 Finland

Syndrome Goldenhar

+∞

11.5

I71.1

ICD-10 Finland

Thoracic aortic aneurysm, ruptured

122.2

11.5

ENC80

NOMESCO Finland

Plastic operation of soft palate for voice distubance

122.2

11.5

Z03.9

ICD-10 Finland

Observation for suspected disease or condition, unspecified

2.3

11.3

119

591

PH2AE

NOMESCO Finland

Ultrasound examination of lower leg veins

3.5

11.3

162

Z03.89

ICD-10 Finland

Observation for other suspected diseases and conditions

2.3

11.0

109

525

Z87.6

ICD-10 Finland

Personal history of certain conditions arising in the perinatal period

5.1

11.0

EB1HA

NOMESCO Finland

Panorama tomography of teeth and jaws or similar X-ray examination

1.8

10.8

260

1786

PD5BG

NOMESCO Finland

MRI examination of thoracal and abdominal aortta with high intensity magnet

61.1

10.7

XF600

NOMESCO Finland

Bloodpressure measurement

2.8

10.6

264

XPX99

NOMESCO Finland

Other diagnostic examination of periferal vessel

5.2

10.6

H72.0

ICD-10 Finland

Central perforation of tympanic membrane

6.7

10.6

RS220

NOMESCO Finland

6.1

10.5

J15.9

ICD-10 Finland

Bacterial pneumonia, unspecified

3.8

10.5

122

FCA75

NOMESCO Finland

Valve-sparing repair of aortic root (David, Yacoub)

111.8

10.4

FCD60

NOMESCO Finland

Resection of thoracoabdominal aorta and reimplantation of branches

+∞

10.4

Q87.31

ICD-10 Finland

Syndrome Sotos

+∞

10.4

Q87.38

ICD-10 Finland

Syndrome Weaver

+∞

10.4

R5120

NOMESCO Finland

Preparation of an aid

9.0

10.3

Q21.09

ICD-10 Finland

Ventricular septal defect NOS

9.8

10.3

F71.0

ICD-10 Finland

Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour

19.2

10.3

DFF20

NOMESCO Finland

Audiometry for children

6.8

10.3

I34.00

ICD-10 Finland

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

13.4

10.2

RT160

NOMESCO Finland

11.6

10.1

H52.0

ICD-10 Finland

Hypermetropia

4.3

10.0

Z46.8

ICD-10 Finland

Fitting and adjustment of other specified devices

7.2

9.9

AA5HE

NOMESCO Finland

Brain ultrasound examination in a child

5.1

9.9

R62.8

ICD-10 Finland

Other lack of expected normal physiological development

9.0

9.8

EB1WA

NOMESCO Finland

10.9

9.8

NK6QA

NOMESCO Finland

Measurement of bone density from tow or more locations with X-ray

3.9

9.8

109

F80.1

ICD-10 Finland

Expressive language disorder

5.7

9.8

CG2T4

NOMESCO Finland

Topography assessment of cornea

13.7

9.7

W01

ICD-10 Finland

Fall on same level from slipping, tripping and stumbling

2.0

9.7

135

757

A11CC03

ATC

alfacalcidol; systemic

5.4

9.6

KF8AE

NOMESCO Finland

Ultrasound examination of scrotum

5.4

9.6

H53.0

ICD-10 Finland

Amblyopia ex anopsia

5.4

9.6

KFH00

NOMESCO Finland

Operation for undescended or ectopic testis

8.6

9.6

TK800

NOMESCO Finland

Hemodialysis

7.3

9.6

ZX120

NOMESCO Finland

Intravenous

2.7

9.6

261

ZXD30

NOMESCO Finland

Difficulties in perfomrming procedure

3.4

9.5

144

4122

FHL

Tympanostomy (tympanic tube)

5.1

9.5

Z71.3

ICD-10 Finland

Dietary counselling and surveillance

3.2

9.5

161

Z97.4

ICD-10 Finland

Presence of external hearing-aid

7.7

9.5

Q87.84

ICD-10 Finland

Williams syndrome

101.5

9.4

Q99.8

ICD-10 Finland

Other specified chromosome abnormalities

17.9

9.4

FCC50

NOMESCO Finland

Resection and reconstruction of descending aorta using tube graft

+∞

9.4

75980

ICD-8 Finland

Congenital syndromes affecting multiple systems, Syndroma Marfan, arachnodactylia

+∞

9.4

H27.0

ICD-10 Finland

Aphakia

+∞

9.4

Q27.4

ICD-10 Finland

Congenital phlebectasia

22.1

9.4

TLC00

NOMESCO Finland

Insertion of intrauterine device

3.1

9.4

169

WX882

NOMESCO Finland

High dependency care

3.0

9.2

194

J01MA12

ATC

levofloxacin; systemic

2.5

9.2

314

A03FA02

ATC

cisapride; oral, rectal

3.6

9.1

117

ZXC12

NOMESCO Finland

Pulse colorlaser

37.3

9.0

Q53.1

ICD-10 Finland

Undescended testicle, unilateral

7.6

9.0

J93.1

ICD-10 Finland

Other spontaneous pneumothorax

18.9

9.0

H81

ICPC

Excessive ear wax

2.6

8.9

261

XCW99

NOMESCO Finland

Other investigative procedure of eye

2.9

8.9

203

Z50.5

ICD-10 Finland

Speech therapy

3.5

8.9

119

I48.9

ICD-10 Finland

Atrial fibrillation and atrial flutter, unspecified

5.8

8.8

N02AX02

ATC

tramadol; systemic, rectal

1.9

8.8

162

1002

K83

ICPC

Heart valve disease NOS

14.3

8.7

Q21.30

ICD-10 Finland

Tetralogy of Fallot

14.3

8.7

Q76.30

ICD-10 Finland

Hemivertebra fusion or failure of segmentation with scoliosis

50.7

8.7

PD5DG

NOMESCO Finland

Very extensive MRI examination of thoracal and abdominal aortta with high intensity magnet

50.7

8.7

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

6.3

8.7

K03.66

ICD-10 Finland

Tooth plaque

2.4

8.7

345

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

3.0

8.6

172

EB1BI

NOMESCO Finland

Cone beam imaging of teeth and jaws (1–2 quarters)

8.4

8.6

S01XA20

ATC

artificial tears and other indifferent preparations; ophthalmic

1.9

8.6

145

867

JN3AA

NOMESCO Finland

Abdominal X-ray examination without contrast

3.8

8.6

SPAT1230

SPAT

Aid fitting and borrowing and monitoring of use

2.6

8.6

266

SJA04

NOMESCO Finland

Very demanding plan for orthodontic care

16.6

8.6

3812A

ICD-9 Finland

Nonsuppurative otitis media and Eustachian tube disorders, Chronic mucoid otitis media

5.3

8.6

Q66.0

ICD-10 Finland

Talipes equinovarus

27.9

8.5

Catheterization and pressure measurement of the right side of the heart

27.9

8.5

Q67.0

ICD-10 Finland

Facial asymmetry

91.2

8.4

PDG51

NOMESCO Finland

Bypass from aorta to iliac artery for aneurysm

91.2

8.4

7598X

ICD-9 Finland

Other and unspecified congenital anomalies, Other specified anomalies[ANOMALIAE CONGENITAE ALIAE DEFINITAE]

91.2

8.4

EHC30

NOMESCO Finland

Reconstruction of palate

+∞

8.3

Q79.8

ICD-10 Finland

Other congenital malformations of musculoskeletal system

+∞

8.3

Q87.82

ICD-10 Finland

Zellweger syndrome

+∞

8.3

Q87.10

ICD-10 Finland

Aarskog syndrome

+∞

8.3

PD5AD

NOMESCO Finland

CT of aorta

11.0

8.3

RL130

NOMESCO Finland

6.6

8.2

EEC05

NOMESCO Finland

Le Fort I osteotomy

14.7

8.2

WX140

NOMESCO Finland

Parabulbar anesthesy

6.2

8.2

Z94.0

ICD-10 Finland

Kidney transplant status

6.2

8.2

RT150

NOMESCO Finland

6.2

8.2

AA1AD

NOMESCO Finland

CT of head and brain

2.2

8.2

397

R50.9

ICD-10 Finland

Fever, unspecified

2.0

8.1

111

611

A41.0

ICD-10 Finland

Sepsis due to Staphylococcus aureus

11.9

8.1

M41.5

ICD-10 Finland

Other secondary scoliosis

33.8

8.1

QAA40

NOMESCO Finland

Laser therapy or photocoagulation of skin of head or neck

33.8

8.1

N18.8

ICD-10 Finland

Other chronic renal failure

6.4

8.1

R04.0

ICD-10 Finland

Epistaxis

3.5

8.1

107

R56.8

ICD-10 Finland

Other and unspecified convulsions

2.7

8.0

211

H65.1

ICD-10 Finland

Other acute nonsuppurative otitis media

3.5

8.0

108

KA2AE

NOMESCO Finland

Ultrasound examination transplanted kidney

7.9

JF1AB

NOMESCO Finland

Passage examination of small bowell with X-ray

5.5

7.9

K84

ICPC

Heart disease other

6.2

7.9

UDH02

NOMESCO Finland

Rhinopharyngoscopy

3.1

7.9

143

Y83

ICD-10 Finland

Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

3.2

7.8

126

127

Kela drug reimbursment

Transplant complication

5.0

7.8

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

2.1

7.8

495

C07AA07

ATC

sotalol; systemic

6.0

7.7

F70.1

ICD-10 Finland

Mild mental retardation, Significant impairment of behaviour requiring attention or treatment

15.3

7.7

Q27.88

ICD-10 Finland

Other specified congenital malformation of peripheral vascular system

45.5

7.7

Q27.3

ICD-10 Finland

Peripheral arteriovenous malformation

45.5

7.7

H61.2

ICD-10 Finland

Impacted cerumen

3.4

7.7

111

FM1DG

NOMESCO Finland

Very extensive MRI examination of heart with high intesity magnet

7.6

7.7

T81.4

ICD-10 Finland

Infection following a procedure, not elsewhere classified

2.7

7.6

206

Q82.58

ICD-10 Finland

Congenital non-neoplastic naevus

25.3

7.6

RD210

NOMESCO Finland

3.1

7.6

141

KAS10

NOMESCO Finland

Allogenic transplantation of kidney from cadaver donor

9.0

7.6

WZC30

NOMESCO Finland

Teaching

2.3

7.5

312

H50.30

ICD-10 Finland

Intermittent esotropy

6.6

7.5

M41.1

ICD-10 Finland

Juvenile idiopathic scoliosis

5.4

7.4

E34.39

ICD-10 Finland

Short stature, not elsewhere classified

5.4

7.4

QBA40

NOMESCO Finland

Laser therapy or photocoagulation of skin of trunk

81.0

7.4

A90

ICPC

Congenital anomaly NOS/multiple

81.0

7.4

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

2.9

7.4

161

CJB10

NOMESCO Finland

Laser discission of secondary cataract

4.8

7.4

Z71.2

ICD-10 Finland

Person consulting for explanation of investigation findings

1.9

7.4

123

730

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

3.0

7.4

148

A06AD11

ATC

lactulose; oral

2.7

7.4

196

WZB00

NOMESCO Finland

Telephone receipt or other advice

1.7

7.4

169

1112

H90.1

ICD-10 Finland

Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side

7.0

7.3

FM1CG

NOMESCO Finland

Extensive examination of hear with high intensity magnet

11.0

7.3

CJG40

NOMESCO Finland

Extraction of dislocated lens with implantation of artificial scleral fixed lens in posterior chamber and iridectomy or iridotomy

+∞

7.3

Aortic root """"composite graft""""

+∞

7.3

37870

ICD-8 Finland

Other diseases of eye, Subluxatio et luxatio lentis

+∞

7.3

Q14.8

ICD-10 Finland

Other congenital malformations of posterior segment of eye

+∞

7.3

Q87.27

ICD-10 Finland

CHARGE association

+∞

7.3

H65.2

ICD-10 Finland

Chronic serous otitis media

5.3

7.3

B02AA02

ATC

tranexamic acid; systemic

2.3

7.3

311

NA3AA

NOMESCO Finland

Lumbar spine X-ray examination without contrast

2.8

7.3

174

XCD00

NOMESCO Finland

Clinical examination of eye in general anaesthesia

16.0

7.2

O80.0

ICD-10 Finland

Spontaneous vertex delivery

0.4

7.2

842

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

2.0

7.2

547

G40.9

ICD-10 Finland

Epilepsy, unspecified

3.7

7.2

XKC03

NOMESCO Finland

Water cystometry

5.1

7.2

Q16.1

ICD-10 Finland

Congenital absence, atresia and stricture of auditory canal (external)

30.4

7.2

P94.2

ICD-10 Finland

Congenital hypotonia

30.4

7.2

FCA50

NOMESCO Finland

Resection and reconstruction of ascending aorta using tube graft

30.4

7.2

74639

ICD-8 Finland

Congenital anomalies of heart, Defectus septi ventriculorum

30.4

7.2

WX100

NOMESCO Finland

Conjunctival surface anesthesia

3.9

7.2

Z2445

NOMESCO Finland

Psychologist

2.3

7.1

307

M41.4

ICD-10 Finland

Neuromuscular scoliosis

20.3

7.1

Q23.11

ICD-10 Finland

Bicuspid aortic valve

8.1

7.1

Congenital heart failure surgery

12.2

7.1

SPAT1231

SPAT

Assessment of adjustments needed in living environment

12.2

7.1

H25.1

ICD-10 Finland

Senile nuclear cataract

2.9

7.1

154

K99

ICPC

Cardiovascular disease other

10.2

7.1

TFC00

NOMESCO Finland

Catheterisation of right atrium or ventricle

10.2

7.1

EB1MA

NOMESCO Finland

Cephalometry with X-ray

2.4

7.0

268

H26.4

ICD-10 Finland

After-cataract

4.6

7.0

WZC00

NOMESCO Finland

Planning of intervention or health care consultation

1.7

7.0

196

1361

H33.0

ICD-10 Finland

Retinal detachment with retinal break

7.7

6.9

137

Kela drug reimbursment

Uraemia requiring dialysis

7.7

6.9

Q23.10

ICD-10 Finland

Congenital insufficiency of aortic valve

14.0

6.9

KFH10

NOMESCO Finland

Orchiopexy

11.1

6.8

J69.0

ICD-10 Finland

Pneumonitis due to food and vomit

9.5

6.8

E23.02

ICD-10 Finland

Neurosecretory dysfunction of the growth hormone

9.5

6.8

SPAT1262

SPAT

Handing over of treatment supplies

2.1

6.8

379

FN1BC

NOMESCO Finland

Extensive angiography of hear and/or coronary arteries

3.7

6.8

I72.8

ICD-10 Finland

Aneurysm and dissection of other specified arteries

40.5

6.8

F79

ICD-10 Finland

Unspecified mental retardation

40.5

6.8

7373A

ICD-9 Finland

Curvature of spine, Kyphoscoliosis and scoliosis

40.5

6.8

NGK20

NOMESCO Finland

Epiphysiodesis of knee or lower leg

40.5

6.8

Z82.6

ICD-10 Finland

Family history of arthritis and other diseases of the musculoskeletal system and connective tissue

40.5

6.8

NFK20

NOMESCO Finland

Epiphysiodesis of femur

16.9

6.8

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

2.3

6.7

293

SPAT1215

SPAT

Assessment of need for medical rehabilitation

3.5

6.7

SBB20

NOMESCO Finland

Tooth X-ray examination in conjunction with visit to dentist

7.3

6.7

Q37.1

ICD-10 Finland

Cleft hard palate with unilateral cleft lip

22.8

6.7

FN1AC

NOMESCO Finland

Angiography of heart and/or coronary arteries

2.3

6.7

274

114

Kela drug reimbursment

Glaucoma

4.0

6.6

RK110

NOMESCO Finland

7.9

6.6

WX302

NOMESCO Finland

Thoracal epidural anesthesy

3.3

6.6

CG2X4

NOMESCO Finland

Optical coherence tomography (OCT) of cornea

12.4

6.6

NA2AA

NOMESCO Finland

Thoracal spine X-ray examination without contrast

4.9

6.6

XG412

NOMESCO Finland

Flow-volume spirometry with bronchospasmolysis

2.6

6.6

193

NF3AA

NOMESCO Finland

Femur X-ray examination

7.0

6.5

R06.0

ICD-10 Finland

Dyspnoea

1.9

6.5

528

GA1AE

NOMESCO Finland

Ultrasound examination of thorax

6.3

6.5

C07AB02

ATC

metoprolol; systemic

2.3

6.5

273

ZXE03

NOMESCO Finland

Procedure duration 20 to 29 minutes

2.6

6.5

181

R31

ICD-10 Finland

Unspecified haematuria

2.9

6.4

139

CKD65

NOMESCO Finland

Pars plana or pars plicata vitrectomy

7.5

6.4

ZZG00

NOMESCO Finland

Graft of cartilage

70.5

6.4

AJ2

Reconstruction of the ascending aorta

70.5

6.4

I71.6

ICD-10 Finland

Thoracoabdominal aortic aneurysm, without mention of rupture

70.5

6.4

Q35.3

ICD-10 Finland

Cleft soft palate

70.5

6.4

4364

FHL

Pharyngeal tongue plastic

70.5

6.4

CJE20

NOMESCO Finland

Phakoemulsification with implantation of artificial lens in posterior chamber

2.4

6.4

220

WX110

NOMESCO Finland

Local anesthesy

1.6

6.4

397

3351

SJX10

NOMESCO Finland

Short check-up visit for orthodontisk therapy

2.3

6.4

275

H50.31

ICD-10 Finland

Intermittent exotropia

4.5

6.4

UDQ12

NOMESCO Finland

Flexible laryngoscopy

3.3

6.4

JN3BD

NOMESCO Finland

Extensive abdominal CT

2.5

6.4

190

E34.30

ICD-10 Finland

Short stature NOS

6.7

6.4

H66.9

ICD-10 Finland

Otitis media, unspecified

1.9

6.4

526

E34.31

ICD-10 Finland

Short stature, prenatal disorder

8.3

6.4

H26.2

ICD-10 Finland

Complicated cataract

8.3

6.4

M21.7

ICD-10 Finland

Unequal limb length (acquired)

8.3

6.4

I87.2

ICD-10 Finland

Venous insufficiency (chronic)(peripheral)

3.1

6.3

112

DFF10

NOMESCO Finland

Measurement of acoustic impedance (tympanometry and reflex testing)

9.4

6.3

RT490

NOMESCO Finland

9.4

6.3

Catheterization and pressure measurement of the left side of the heart

9.4

6.3

Q67.6

ICD-10 Finland

Pectus excavatum

18.2

6.3

R5140

NOMESCO Finland

Monitoring the use of the aid

2.5

6.3

197

Q87.23

ICD-10 Finland

Rubinstein-Taybi syndrome

+∞

6.3

Q87.22

ICD-10 Finland

Nail-patella syndrome

+∞

6.3

Q71.4

ICD-10 Finland

Longitudinal reduction defect of radius

+∞

6.3

Q87.00

ICD-10 Finland

Syndrome Treacher Collins

+∞

6.3

RT290

NOMESCO Finland

+∞

6.3

7844L

ICD-9 Finland

Symptoms involving head and neck, Voice disturbance[RINOPHONIA SEU RHINOLALIA]

+∞

6.3

4121

FHL

Tympanic puncture or parasentosis in general anesthesia or operating room

7.1

6.2

Q17.2

ICD-10 Finland

Microtia

26.9

6.2

H05BX01

ATC

cinacalcet; oral

26.9

6.2

74900

ICD-8 Finland

Cleft palate and cleft lip, Cleft palate

26.9

6.2

N03AF02

ATC

oxcarbazepine; oral

3.2

6.2

SJC00

NOMESCO Finland

Bracket with fixed attachment

12.7

6.1

H54.2

ICD-10 Finland

Moderate visual impairment, binocular

12.7

6.1

WX722

NOMESCO Finland

PEEP

3.2

6.1

XX9BW

NOMESCO Finland

Submitting image material and/or investigation material to authority or other institution

8.7

6.1

XF655

NOMESCO Finland

Measurement of heart muscle perfusion with exercise

6.8

6.1

H66.0

ICD-10 Finland

Acute suppurative otitis media

1.8

6.1

115

707

RK320

NOMESCO Finland

10.2

6.0

DCA10

NOMESCO Finland

Paracentesis of tympanic membrane

3.9

6.0

J01EE01

ATC

sulfamethoxazole and trimethoprim; systemic

3.2

6.0

NAME	Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q87
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q87
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
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

Parameter	HR [95% CI]	p-value
Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS	4.369 [3.04, 6.28]	< 0.001
Birth year	0.994 [0.99, 1.0]	0.176

Parameter	HR [95% CI]	p-value
Q17_OTHER_SPECIFE_CONGEN_MALFO_SYNDR_AFFECTING_MULTIPLE_SYSTEMS	4.099 [3.26, 5.16]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.006

N-year risk	Females	Males
1	0.44%	0.835%
5	2.571%	4.97%
10	6.367%	12.307%
15	11.887%	21.957%
20	20.333%	34.286%

Other specified congenital malformation syndromes affecting multiple systems

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