Risteys · P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA

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 — P20-P29 Cause of death: ICD-10 — P20-P29 2 out of 7 registries used, show all original rules.	939
4. Check minimum number of events None	939
5. Include endpoints P16_INTRAU_HYPOXIA P16_BIRTH_ASPHYXIA P16_RESPI_DISTR_NEWBO P16_CONGN_PNEUMON P16_NEONTAL_ASPIRATI_SYNDR P16_INTERSTITIAL_EMPHY_RELATED_COND_ORIGINA_PERINA_PERIOD P16_PULMONARY_HAEMORRHAGE_ORIGINA_PERINA_PERIOD P16_CHRONIC_RESPI_DISEA_ORIGINA_PERINA_PERIOD P16_OTH_RESPI_COND_ORIGINA_PERINA_PERIOD P16_CARDIOV_DISORD_ORIGINA_PERINA_PERIOD	939
6. Filter based on genotype QC (FinnGen only)	939

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	72975	31693	41278
Only index persons	31986	13548	18438
Unadjusted period prevalence (%)
Whole population	1.05	0.91	1.15
Only index persons	0.62	0.50	0.70
Median age at first event (years)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	939	505	434
Unadjusted period prevalence (%)	0.18	0.17	0.19
Median age at first event (years)	0.00	0.00	0.00

-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
757: Matched controls
6856

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

P22.1

ICD-10 Finland

Transient tachypnoea of newborn

+∞

211.8

200

Z87.6

ICD-10 Finland

Personal history of certain conditions arising in the perinatal period

16.2

132.7

233

183

P07.3

ICD-10 Finland

Other preterm infants

16.0

121.0

212

162

P22.0

ICD-10 Finland

Respiratory distress syndrome of newborn

+∞

113.5

110

P22.9

ICD-10 Finland

Respiratory distress of newborn, unspecified

+∞

103.9

101

P21.1

ICD-10 Finland

Mild and moderate birth asphyxia

+∞

98.7

WX722

NOMESCO Finland

PEEP

21.2

63.2

P27.1

ICD-10 Finland

Bronchopulmonary dysplasia originating in the perinatal period

576.0

58.3

P21.0

ICD-10 Finland

Severe birth asphyxia

+∞

55.9

P07.2

ICD-10 Finland

Extreme immaturity

236.5

46.7

P29.30

ICD-10 Finland

Delayed closure of the ductus arteriosus

+∞

42.5

P22.8

ICD-10 Finland

Other respiratory distress of newborn

195.7

38.6

P59.0

ICD-10 Finland

Neonatal jaundice associated with preterm delivery

11.9

32.1

P25.1

ICD-10 Finland

Pneumothorax originating in the perinatal period

+∞

30.3

P29.31

ICD-10 Finland

Persistent fetal circulation

+∞

27.2

P29.9

ICD-10 Finland

Cardiovascular disorder originating in the perinatal period, unspecified

+∞

27.2

WX882

NOMESCO Finland

High dependency care

3.3

26.4

150

474

P70.4

ICD-10 Finland

Other neonatal hypoglycaemia

6.7

25.9

101

602

Kela drug reimbursment

Children's severe malnutrition

5.0

25.8

175

AA5HE

NOMESCO Finland

Brain ultrasound examination in a child

4.6

25.2

201

H35.1

ICD-10 Finland

Retinopathy of prematurity

243.6

24.8

P24.0

ICD-10 Finland

Neonatal aspiration of meconium

+∞

23.2

203

Kela drug reimbursment

Chronic asthma and similar chronic obstructive pulmonary diseases

2.7

22.6

179

699

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

2.9

20.4

138

486

P36.90

ICD-10 Finland

Suspected bacterial sepsis of newborn

8.2

19.3

P28.4

ICD-10 Finland

Other apnoea of newborn

+∞

19.1

P07.10

ICD-10 Finland

Other low birth weight 1000-1499 g

32.0

18.1

J45.1

ICD-10 Finland

Nonallergic asthma

2.8

17.9

128

465

P07.11

ICD-10 Finland

Other low birth weight 1500-1999 g

10.7

17.9

R4110

NOMESCO Finland

Physiotherapy

2.2

16.8

222

1103

F82

ICD-10 Finland

Specific developmental disorder of motor function

4.0

16.4

169

P21.9

ICD-10 Finland

Birth asphyxia, unspecified

+∞

16.1

P70.0

ICD-10 Finland

Syndrome of infant of mother with gestational diabetes

7.9

16.1

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

2.5

15.9

143

588

P07.02

ICD-10 Finland

Extremely low birth weight 750-999 g

157.1

15.9

Z3231

NOMESCO Finland

Registered nurse

1.9

15.8

333

1987

P01.5

ICD-10 Finland

Fetus and newborn affected by multiple pregnancy

11.9

15.2

P07.01

ICD-10 Finland

Extremely low birth weight 500-749 g

+∞

15.1

WX730

NOMESCO Finland

Conventional respirator

8.8

14.9

P07.1

ICD-10 Finland

Other low birth weight

24.4

14.9

Z3226

NOMESCO Finland

Physiotherapist

2.0

14.5

229

1213

P39.9

ICD-10 Finland

Infection specific to the perinatal period, unspecified

6.6

14.3

WW804

NOMESCO Finland

Transfer from treating institution to higher-Level care, accompanied by doctor

8.8

14.0

FDE00

NOMESCO Finland

Closure of patent ductus arteriosus

138.2

13.9

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

2.7

13.7

348

Z2221

NOMESCO Finland

Medical doctor

2.0

13.5

223

1200

P70.1

ICD-10 Finland

Syndrome of infant of a diabetic mother

9.7

13.3

P20.1

ICD-10 Finland

Intrauterine hypoxia first noted during labour and delivery

+∞

13.1

P05.1

ICD-10 Finland

Small for gestational age

7.1

12.7

XG413

NOMESCO Finland

Spirometry with oscillometry

4.2

12.6

108

Z2446

NOMESCO Finland

Social worker

2.0

12.5

177

891

G80.1

ICD-10 Finland

Spastic diplegic cerebral palsy

14.7

11.5

P25.2

ICD-10 Finland

Pneumomediastinum originating in the perinatal period

+∞

11.0

P01.10

ICD-10 Finland

Fetus and newborn affected by premature rupture of membranes 1-7 days before delivery

7.7

10.5

R5110

NOMESCO Finland

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

2.8

10.4

239

R03BA05

ATC

fluticasone; inhalant

1.8

10.4

207

1174

P00.0

ICD-10 Finland

Fetus and newborn affected by maternal hypertensive disorders

7.4

10.3

ZX114

NOMESCO Finland

Intramuscular

5.0

10.1

P29.1

ICD-10 Finland

Neonatal cardiac dysrhythmia

+∞

10.0

P23.9

ICD-10 Finland

Congenital pneumonia, unspecified

+∞

10.0

P07.12

ICD-10 Finland

Other low birth weight 2000-2499 g

5.1

10.0

JAB00

NOMESCO Finland

Division and ligature of inguinal hernia sac

4.0

9.9

R03AK06

ATC

salmeterol and fluticasone; inhalant

2.4

9.8

340

J21.90

ICD-10 Finland

Acute obstructive bronchitis in children

2.6

9.7

259

R03AC02

ATC

salbutamol; inhalant

1.6

9.7

406

2838

P05.0

ICD-10 Finland

Light for gestational age

8.1

9.6

Z01.0

ICD-10 Finland

Examination of eyes and vision

1.9

9.5

169

915

ZXD10

NOMESCO Finland

Scheduled procedure

1.7

9.5

283

1803

R03BA02

ATC

budesonide; inhalant

2.0

9.4

137

693

ZXE10

NOMESCO Finland

More than one and less than three hours

1.7

9.4

228

1369

XA800

NOMESCO Finland

Neuropsychological investigation

2.2

9.2

423

R62.0

ICD-10 Finland

Delayed milestone

2.4

9.0

311

J45.9

ICD-10 Finland

Asthma, unspecified

1.9

8.8

134

684

Z01.1

ICD-10 Finland

Examination of ears and hearing

1.8

8.7

166

918

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

1.8

8.7

167

929

P02.1

ICD-10 Finland

Fetus and newborn affected by other forms of placental separation and haemorrhage

33.6

8.6

P29.8

ICD-10 Finland

Other cardiovascular disorders originating in the perinatal period

+∞

8.0

F80.1

ICD-10 Finland

Expressive language disorder

2.9

8.0

152

R2130

NOMESCO Finland

Counselling and guidance which enhance independent living

1.9

7.9

127

660

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

2.1

7.8

431

RT150

NOMESCO Finland

3.6

7.7

M03BX01

ATC

baclofen; systemic

10.7

7.6

UGC02

NOMESCO Finland

Rigid bronchoscopy

4.5

7.5

WX704

NOMESCO Finland

Intubation

2.7

7.4

165

WX408

NOMESCO Finland

General anesthesy, balanced

1.6

7.3

239

1538

RK312

NOMESCO Finland

6.0

7.3

H50.30

ICD-10 Finland

Intermittent esotropy

3.3

7.2

EBA15

NOMESCO Finland

Extraction of large number of teeth

3.0

7.2

130

Z3229

NOMESCO Finland

Other healthcare associate professional

1.9

7.1

103

516

Q25.0

ICD-10 Finland

Patent ductus arteriosus

3.6

7.1

KH1AE

NOMESCO Finland

Urinary tract ultrasound examination

2.3

7.0

277

P24.1

ICD-10 Finland

Neonatal aspiration of amniotic fluid and mucus

+∞

7.0

P07.0

ICD-10 Finland

Extremely low birth weight

+∞

7.0

ZXE06

NOMESCO Finland

Procedure duration 50 to 59 minutes

1.9

6.9

100

502

ZXE11

NOMESCO Finland

Procedure duration 60 to 89 minutes

1.7

6.8

139

780

WW805

NOMESCO Finland

Transfer from treating institution to lower-Level care, accompanied by paramedic/nurse

9.9

6.8

P03.4

ICD-10 Finland

Fetus and newborn affected by caesarean delivery

9.9

6.8

7AA02

NOMESCO Finland

27.4

6.8

P52.2

ICD-10 Finland

Intraventricular (nontraumatic) haemorrhage, grade 3, and grade 4 of fetus and newborn

27.4

6.8

K40.9

ICD-10 Finland

Unilateral or unspecified inguinal hernia, without obstruction or gangrene

2.9

6.8

124

P52.0

ICD-10 Finland

Intraventricular (nontraumatic) haemorrhage, grade 1, of fetus and newborn

18.3

6.8

Z01.8

ICD-10 Finland

Other specified special examinations

1.8

6.6

128

708

ZXE04

NOMESCO Finland

Procedure duration 30 to 39 minutes

2.0

6.6

374

F79.0

ICD-10 Finland

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

3.2

6.6

WX404

NOMESCO Finland

Intravenous generell anesthesy

1.6

6.5

200

1258

6BB16

NOMESCO Finland

12.6

6.5

RK520

NOMESCO Finland

6.9

6.4

J21.9

ICD-10 Finland

Acute bronchiolitis, unspecified

2.0

6.4

375

WX732

NOMESCO Finland

High frequency respirator

20.6

6.3

H66.0

ICD-10 Finland

Acute suppurative otitis media

1.5

6.2

266

1806

R1230

NOMESCO Finland

Neuropsychological evaluation of need and possibilities to rehabilitation

2.3

6.2

224

DCA20

NOMESCO Finland

Insertion of ventilating tube through tympanic membrane

1.7

6.2

151

892

ZX108

NOMESCO Finland

Inhalation

4.0

6.2

P36.3

ICD-10 Finland

Sepsis of newborn due to other and unspecified staphylococci

63.9

6.2

504

Kela drug reimbursment

Conditions requiring daily forced enteral nutrition

2.8

6.1

132

P08.1

ICD-10 Finland

Other heavy for gestational age infants

9.2

6.1

P24.3

ICD-10 Finland

Neonatal aspiration of milk and regurgitated food

+∞

6.0

Mortality – FinRegistry

↥

Association

Association between endpoint P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD and mortality.

Females

Parameter	HR [95% CI]	p-value
P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD	1.961 [1.64, 2.34]	< 0.001
Birth year	0.997 [0.99, 1.01]	0.451

During the follow-up period (1.1.1998 — 31.12.2019), 199 out of 29349 females with P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD died.

Males

Parameter	HR [95% CI]	p-value
P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD	2.368 [2.05, 2.74]	< 0.001
Birth year	0.988 [0.98, 1.0]	0.009

During the follow-up period (1.1.1998 — 31.12.2019), 279 out of 38142 males with P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD died.

Mortality risk

Mortality risk for people of age

years, who have P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD.

N-year risk	Females	Males
1	0.176%	0.425%
5	1.096%	2.92%
10	2.92%	7.072%
15	5.676%	12.871%
20	10.052%	21.298%

Relationships between endpoints

↥

Index endpoint: P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD – Respiratory and cardiovascular disorders specific to the perinatal period

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	P16_RESPI_CARDIOV_DISORD_SPECIFIC_PERINA_PERIOD
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	P16_INTRAU_HYPOXIA\|P16_BIRTH_ASPHYXIA\|P16_RESPI_DISTR_NEWBO\|P16_CONGN_PNEUMON\|P16_NEONTAL_ASPIRATI_SYNDR\|P16_INTERSTITIAL_EMPHY_RELATED_COND_ORIGINA_PERINA_PERIOD\|P16_PULMONARY_HAEMORRHAGE_ORIGINA_PERINA_PERIOD\|P16_CHRONIC_RESPI_DISEA_ORIGINA_PERINA_PERIOD\|P16_OTH_RESPI_COND_ORIGINA_PERINA_PERIOD\|P16_CARDIOV_DISORD_ORIGINA_PERINA_PERIOD
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	P2
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	P2
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

Respiratory and cardiovascular disorders specific to the perinatal period

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