Risteys · Q17_OTHER_CONGEN_MALFO_CIRCULATO

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 — Q28 Cause of death: ICD-10 — Q28 2 out of 7 registries used, show all original rules.	911
4. Check minimum number of events None	911
5. Include endpoints None	911
6. Filter based on genotype QC (FinnGen only)	911

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	5679	2954	2695
Only index persons	5251	2773	2478
Unadjusted period prevalence (%)
Whole population	0.08	0.08	0.08
Only index persons	0.10	0.10	0.09
Median age at first event (years)
Whole population	50.81	51.53	50.08
Only index persons	51.08	51.74	50.35

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	911	525	386
Unadjusted period prevalence (%)	0.18	0.18	0.17
Median age at first event (years)	53.93	51.63	57.06

-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)

↥

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
817: Matched controls
8169

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q28.2

ICD-10 Finland

Arteriovenous malformation of cerebral vessels

+∞

323.0

339

Q28.3

ICD-10 Finland

Other malformations of cerebral vessels

+∞

323.0

443

PA2BC

NOMESCO Finland

Cerebral extensive angiography with X-ray

52.2

106.9

128

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

8.7

94.7

226

345

PA2CC

NOMESCO Finland

Cerebral very extensive angiography with X-ray

54.6

88.5

105

AAC40

NOMESCO Finland

Extirpation of intracranial arterio-venous malformation

+∞

76.3

AA1AD

NOMESCO Finland

CT of head and brain

4.4

73.2

338

1120

Q28.8

ICD-10 Finland

Other specified congenital malformations of circulatory system

+∞

67.7

AAB00

NOMESCO Finland

Extirpation of intracranial lesion

27.9

66.8

AA1DG

NOMESCO Finland

Very extensive MRI examination of brain with high intensity magnet

12.6

61.5

114

104

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

8.4

60.0

141

199

PA2BD

NOMESCO Finland

Extensive CT angiography of brain

16.4

52.5

PA2JT

NOMESCO Finland

Very extensive embolisation of arterio-venous malformation of the brain

+∞

48.4

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

3.9

47.8

232

752

PA2HT

NOMESCO Finland

Extensive embolisation of arterio-venous malformation of the brain

+∞

44.2

N03AF02

ATC

oxcarbazepine; oral

9.4

44.0

111

Q28.0

ICD-10 Finland

Arteriovenous malformation of precerebral vessels

+∞

41.0

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

4.8

40.8

148

358

PA2AC

NOMESCO Finland

Cerebral angiography with X-ray

59.4

38.7

I67.1

ICD-10 Finland

Cerebral aneurysm, nonruptured

13.4

38.4

I69.1

ICD-10 Finland

Sequelae of intracerebral haemorrhage

27.1

37.2

G40.29

ICD-10 Finland

Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures

11.5

35.3

I60.8

ICD-10 Finland

Other subarachnoid haemorrhage

81.9

35.1

G40.9

ICD-10 Finland

Epilepsy, unspecified

8.0

34.6

111

XA800

NOMESCO Finland

Neuropsychological investigation

6.5

34.2

158

PA2GT

NOMESCO Finland

Embolisation of arterio-venous malformation of the brain

+∞

33.6

G40.22

ICD-10 Finland

Complex partial epileptic seizure with secondary generalization

11.9

32.8

N03AF01

ATC

carbamazepine; oral, rectal

5.8

31.8

182

Kela drug reimbursment

Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide

10.4

31.7

H93.1

ICD-10 Finland

Tinnitus

4.8

31.5

112

262

I61.9

ICD-10 Finland

Intracerebral haemorrhage, unspecified

16.1

30.8

PA3AC

NOMESCO Finland

Carotis angiography with X-ray

53.7

30.6

WX408

NOMESCO Finland

General anesthesy, balanced

2.6

30.3

291

1439

D18.0

ICD-10 Finland

Haemangioma, any site

9.5

30.2

R51.80

ICD-10 Finland

Headache

3.2

29.6

181

674

Q28.1

ICD-10 Finland

Other malformations of precerebral vessels

+∞

29.3

N03AX14

ATC

levetiracetam; systemic

8.0

28.1

Q28.9

ICD-10 Finland

Congenital malformation of circulatory system, unspecified

+∞

27.2

XCK00

NOMESCO Finland

Perimetry

4.7

27.2

231

ZXD10

NOMESCO Finland

Scheduled procedure

2.2

23.9

362

2181

ZXE10

NOMESCO Finland

More than one and less than three hours

2.2

23.4

341

2013

R56.8

ICD-10 Finland

Other and unspecified convulsions

4.6

23.2

194

I61.0

ICD-10 Finland

Intracerebral haemorrhage in hemisphere, subcortical

14.7

22.8

ZXE20

NOMESCO Finland

More than three and less than five hours

2.8

22.3

159

642

H53.4

ICD-10 Finland

Visual field defects

9.7

22.1

I77.0

ICD-10 Finland

Arteriovenous fistula, acquired

118.2

21.7

G40.10

ICD-10 Finland

Simple partial seizures

18.5

21.0

AA1CM

NOMESCO Finland

Extensive MRI examination of brain with 3 Tesla magnet

7.9

20.9

AAL00

NOMESCO Finland

Endovascular occlusion of intracranial aneurysm

78.9

20.8

R4110

NOMESCO Finland

Physiotherapy

2.3

20.6

251

1345

G40.12

ICD-10 Finland

Simple partial seizures with secondary generalization

17.5

20.6

XX4AW

NOMESCO Finland

27.9

20.1

PA2BG

NOMESCO Finland

MRI examination of vessels in the head with high intensity magnet

25.7

18.3

Z3226

NOMESCO Finland

Physiotherapist

2.4

18.2

179

860

Z2445

NOMESCO Finland

Psychologist

4.4

18.0

163

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

2.6

17.7

147

644

ZXD35

NOMESCO Finland

Usual procedure

5.1

17.1

111

R29.8

ICD-10 Finland

Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems

3.2

16.2

312

Z3231

NOMESCO Finland

Registered nurse

2.0

16.2

250

1460

I61.1

ICD-10 Finland

Intracerebral haemorrhage in hemisphere, cortical

30.7

16.2

PA4AC

NOMESCO Finland

Vertebralis angiography with X-ray

48.5

16.1

AAC30

NOMESCO Finland

Intracranial occlusion of vascular fistula

+∞

15.7

AAC00

NOMESCO Finland

Ligature of intracranial aneurysm

9.4

15.3

N03AX18

ATC

lacosamide; systemic

18.2

15.2

I61.8

ICD-10 Finland

Other intracerebral haemorrhage

25.6

14.7

H53.2

ICD-10 Finland

Diplopia

4.8

14.5

104

WX002

NOMESCO Finland

Sedation and analgesia

2.1

14.4

179

950

N03AB02

ATC

phenytoin; systemic

10.3

14.0

ZXE30

NOMESCO Finland

More than five and less than seven hours

3.8

13.9

168

PA5AC

NOMESCO Finland

Angiography of arteries to the face with X-ray

+∞

13.6

ZXC95

NOMESCO Finland

Use of surgical navigator

9.0

13.6

R20.2

ICD-10 Finland

Paraesthesia of skin

3.0

13.2

272

AA1DM

NOMESCO Finland

Very extensive MRI examination of brain with 3 Tesla magnet

11.2

12.6

183

Kela drug reimbursment

Lamotrigin and topiramate

9.5

12.5

XF400

NOMESCO Finland

ECG with 12 standard connections

2.2

12.5

140

705

G44.2

ICD-10 Finland

Tension-type headache

2.2

12.3

131

645

I67.8

ICD-10 Finland

Other specified cerebrovascular diseases

38.2

12.2

Z01.0

ICD-10 Finland

Examination of eyes and vision

2.1

12.2

143

735

N03AG01

ATC

valproic acid; systemic, rectal

3.0

12.2

244

AAG50

NOMESCO Finland

Stereotactic intracranial radiotherapy

11.3

12.1

R4150

NOMESCO Finland

Neuropsychological rehabilitation

10.3

12.0

I63.9

ICD-10 Finland

Cerebral infarction, unspecified

2.8

12.0

312

I69.3

ICD-10 Finland

Sequelae of cerebral infarction

3.2

11.9

202

I61.4

ICD-10 Finland

Intracerebral haemorrhage in cerebellum

47.4

11.9

XXA00

NOMESCO Finland

Clinical examination requiring general anaesthesia

11.3

11.6

Q27.3

ICD-10 Finland

Peripheral arteriovenous malformation

+∞

11.5

R4120

NOMESCO Finland

Occupational therapy

2.9

11.5

254

G40.20

ICD-10 Finland

Complex partial seizures with only alteration of consciousness

8.5

11.4

G40.6

ICD-10 Finland

Grand mal seizures, unspecified (with or without petit mal)

25.4

11.2

K90

ICPC

Stroke/cerebrovascular accident

5.7

11.1

R90.8

ICD-10 Finland

Other abnormal findings on diagnostic imaging of central nervous system

8.7

11.1

XX4BW

NOMESCO Finland

28.4

10.7

XCW99

NOMESCO Finland

Other investigative procedure of eye

2.4

10.7

442

N18

ICPC

Paralysis/weakness

6.7

10.6

I69.0

ICD-10 Finland

Sequelae of subarachnoid haemorrhage

10.2

10.5

PA5JT

NOMESCO Finland

Embolisation of very extensive arterio-venous malformation of carotis externa area

+∞

10.4

AA9CW

NOMESCO Finland

19.1

10.3

N02BE01

ATC

paracetamol; systemic, rectal

1.8

10.2

686

6040

K91

ICPC

Cerebrovascular disease

8.0

10.2

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

2.2

10.0

113

567

ZXD05

NOMESCO Finland

Urgent procedure

1.7

10.0

255

1716

I60.9

ICD-10 Finland

Subarachnoid haemorrhage, unspecified

6.6

9.8

WX882

NOMESCO Finland

High dependency care

4.3

9.8

PA6BD

NOMESCO Finland

Extensive CT of neck arteries

3.3

9.5

149

I60.1

ICD-10 Finland

Subarachnoid haemorrhage from middle cerebral artery

17.8

9.4

AAB30

NOMESCO Finland

Evacuation of spontaneous intracranial haematoma

30.4

9.4

G40

ICD-10 Finland

Epilepsy

8.2

9.4

R51

ICD-10 Finland

Headache

2.9

9.3

203

G40.2

ICD-10 Finland

Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures

9.7

9.3

ZXE00

NOMESCO Finland

One hour or less

1.6

9.2

320

2333

H53.1

ICD-10 Finland

Subjective visual disturbances

2.7

9.2

248

WX892

NOMESCO Finland

Monitored bed care

2.5

9.1

287

WX000

NOMESCO Finland

Monitoring vital functions without anesthesy

3.2

9.1

154

WX110

NOMESCO Finland

Local anesthesy

1.6

8.9

544

4541

I60.0

ICD-10 Finland

Subarachnoid haemorrhage from carotid siphon and bifurcation

24.3

8.9

WX404

NOMESCO Finland

Intravenous generell anesthesy

1.8

8.9

173

1066

N03AX09

ATC

lamotrigine; oral

2.9

8.6

178

CS444

NOMESCO Finland

Visual field testing with Octopus automated perimetry

3.8

8.5

ZX050

NOMESCO Finland

Stereotactic radiotherapy

7.5

8.5

Q82.2

ICD-10 Finland

Mastocytosis

91.0

8.4

D33.00

ICD-10 Finland

Medial pilosytic astrocytoma of the cerebrum

+∞

8.3

N03AX16

ATC

pregabalin; oral

1.7

8.3

185

1189

G40.89

ICD-10 Finland

Other epilepsy

14.7

8.2

GD1AA

NOMESCO Finland

Thorax X-ray examination

1.6

8.2

322

2399

ZXE11

NOMESCO Finland

Procedure duration 60 to 89 minutes

2.6

8.2

246

R41.8

ICD-10 Finland

Other and unspecified symptoms and signs involving cognitive functions and awareness

2.4

8.2

297

Z03.3

ICD-10 Finland

Observation for suspected nervous system disorder

2.5

8.0

242

I69.2

ICD-10 Finland

Sequelae of other nontraumatic intracranial haemorrhage

22.3

8.0

Z3229

NOMESCO Finland

Other healthcare associate professional

2.3

8.0

347

AA5PD

NOMESCO Finland

CT examination of brain pefusion

7.9

R42

ICD-10 Finland

Dizziness and giddiness

1.8

7.9

159

990

AAF00

NOMESCO Finland

Ventriculostomy

8.6

7.8

I67.9

ICD-10 Finland

Cerebrovascular disease, unspecified

10.9

7.8

Z2221

NOMESCO Finland

Medical doctor

1.6

7.8

225

1547

TAB00

NOMESCO Finland

Lumbar puncture

2.8

7.8

183

H49.1

ICD-10 Finland

Fourth [trochlear] nerve palsy

15.2

7.7

I84.9

ICD-10 Finland

Unspecified hemorrhoids without complication

2.9

7.7

161

M79.6

ICD-10 Finland

Pain in limb

1.6

7.7

273

1978

Z71.2

ICD-10 Finland

Person consulting for explanation of investigation findings

1.7

7.6

180

1174

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

2.2

7.6

358

M03BX01

ATC

baclofen; systemic

4.9

7.5

PG1GT

NOMESCO Finland

Endovascular embolisation of arterio-venous malformation with radiological guidance not elsewhere classified

+∞

7.3

4301A

ICD-9 Finland

Subarachnoid haemorrhage[HAEMORRHAGIA SUBARACH.POST MALFORMAT.ARTERIOVENOSAM]

+∞

7.3

7478X

ICD-9 Finland

Other congenital anomalies of circulatory system, Other specified anomalies of circulatory system

+∞

7.3

Z01.1

ICD-10 Finland

Examination of ears and hearing

1.9

7.2

105

587

TPH04

NOMESCO Finland

Cathetrisation of vein

1.7

7.2

157

997

ABB00

NOMESCO Finland

Excision of lesion of spinal canal

20.2

7.1

ZXE04

NOMESCO Finland

Procedure duration 30 to 39 minutes

2.5

7.1

232

L28

ICPC

Limited function/disability (L)

1.9

7.0

108

614

ZXA00

NOMESCO Finland

Right side

1.6

7.0

198

1354

Z71.8

ICD-10 Finland

Other specified counselling

1.6

6.8

176

1172

PA2CG

NOMESCO Finland

Extensive MRI examination of vessels in the head with high intensity magnet

11.1

6.8

N03AX12

ATC

gabapentin; oral

1.8

6.8

120

713

I69.8

ICD-10 Finland

Sequelae of other and unspecified cerebrovascular diseases

40.4

6.8

DFF00

NOMESCO Finland

Pure tone audiometry

2.2

6.7

336

RS222

NOMESCO Finland

6.5

6.7

NA1BG

NOMESCO Finland

Cervical spine MRI examination with high intensity magnet

2.5

6.6

197

PA2LT

NOMESCO Finland

Endovascular closure of extensive brain aneurysm

12.4

6.6

I63.8

ICD-10 Finland

Other cerebral infarction

8.8

6.6

H49.2

ICD-10 Finland

Sixth [abducent] nerve palsy

7.5

6.4

TKC20

NOMESCO Finland

Catheterisation of bladder

2.4

6.4

227

PA2AD

NOMESCO Finland

CT angiography of brain

8.2

6.3

NA2CG

NOMESCO Finland

Thoracal spine extensive MRI examination with high intensity magnet

5.6

6.3

F32.2

ICD-10 Finland

Severe depressive episode without psychotic symptoms

2.2

6.3

276

N05BA01

ATC

diazepam; systemic, rectal

1.8

6.3

104

604

R51.81

ICD-10 Finland

Facial pain NOS

4.4

6.3

PC6CC

NOMESCO Finland

Spinal angiography, very extensive

+∞

6.3

Q27.4

ICD-10 Finland

Congenital phlebectasia

+∞

6.3

Q27.9

ICD-10 Finland

Congenital malformation of peripheral vascular system, unspecified

+∞

6.3

XKD06

NOMESCO Finland

Physiologic investigation of micturition

3.6

6.2

I78.0

ICD-10 Finland

Hereditary haemorrhagic telangiectasia

26.9

6.2

R47.0

ICD-10 Finland

Dysphasia and aphasia

6.3

6.2

PA6BG

NOMESCO Finland

MRI examination of neck vasculature with high intensity magnet

7.8

6.1

AA1AG

NOMESCO Finland

Short MRI examination of brain with median intensity magnet

5.0

6.1

ZXY02

NOMESCO Finland

Neuropsychologist

8.7

6.1

N05BA09

ATC

clobazam; oral

8.7

6.1

N28

ICPC

Limited function/disability (N)

5.6

6.0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM	1.412 [1.2, 1.67]	< 0.001
Birth year	0.995 [0.99, 1.0]	0.218

During the follow-up period (1.1.1998 — 31.12.2019), 247 out of 2415 females with Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM died.

Males

Parameter	HR [95% CI]	p-value
Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM	1.509 [1.28, 1.78]	< 0.001
Birth year	0.989 [0.98, 1.0]	0.02

During the follow-up period (1.1.1998 — 31.12.2019), 309 out of 2209 males with Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM.

N-year risk	Females	Males
1	0.111%	0.301%
5	0.689%	1.751%
10	1.803%	4.426%
15	3.836%	8.529%
20	6.932%	14.452%

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM – Other congenital malformations of circulatory system

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

NAME	Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_CIRCULATO_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q28
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q28
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

Other congenital malformations of circulatory system

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