Congenital malformations of lung

Q17_CONGEN_MALFO_LUNG

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

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 — Q33 Cause of death: ICD-10 — Q33 2 out of 7 registries used, show all original rules.	89
4. Check minimum number of events None	89
5. Include endpoints None	89
6. Filter based on genotype QC (FinnGen only)	89

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_RESPI_SYSTEM

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q3[0-4]
Name in latin: Malformationes congenitae pulmonis/pulmonum

NAME	Q17_CONGEN_MALFO_LUNG
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_RESPI_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q33
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q33
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

Similar endpoints

↥

List of similar endpoints to Congenital malformations of lung 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	981	473	506
Only index persons	577	282	295
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	4.16	6.77	1.64
Only index persons	29.63	36.04	23.51

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	89	45	44
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	43.74	47.38	40.01

-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
78: Matched controls
780

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q33.2

ICD-10 Finland

Sequestration of lung

+∞

25.4

R91

ICD-10 Finland

Abnormal findings on diagnostic imaging of lung

26.3

20.8

Q33.08

ICD-10 Finland

Congenital cystic lung

+∞

17.3

Q33.6

ICD-10 Finland

Hypoplasia and dysplasia of lung

+∞

12.9

GD1BD

NOMESCO Finland

Thorax extensive CT-examination

18.6

9.4

UGC12

NOMESCO Finland

Flexible bronchoscopy

11.5

8.8

Q33.9

ICD-10 Finland

Congenital malformation of lung, unspecified

+∞

8.5

Q33.00

ICD-10 Finland

Solitary congenital cyst in the lungs

+∞

8.5

GDC00

NOMESCO Finland

Lobectomy of lung

+∞

7.4

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.5

6.6

201

UGC02

NOMESCO Finland

Rigid bronchoscopy

75.8

6.5

J18.9

ICD-10 Finland

Pneumonia, unspecified

4.2

6.5

Q33.80

ICD-10 Finland

Congenital [cystic] adenomatoid malformation of lung

+∞

6.3

GDC01

NOMESCO Finland

Thoracoscopic lobectomy of lung

+∞

6.3

XG412

NOMESCO Finland

Flow-volume spirometry with bronchospasmolysis

7.5

6.2

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

5.2

6.2

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3023419) Bacteria identified in Sputum by Culture

12.39

4.88

3.1

1.6

—

(3023368) Bacteria identified in Blood by Culture

151

2.75

4.65

3.5

4.6

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

4.99

4.42

1.0

1.7

—

(3044889) 12 lead EKG panel

438

2.64

4.15

2.7

2.9

—

(3032080) INR in Blood by Coagulation assay

194

2.33

3.49

3.3

5.4

1.00

1.14

inr

1.78

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

6.80

3.25

1.0

1.5

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

4.88

3.21

1.0

1.8

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

5.38

3.13

3.1

1.9

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

7.94

3.10

1.2

1.6

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

165

2.23

2.98

2.8

3.8

—

(3005322) IgE [Units/volume] in Serum or Plasma

2.86

2.97

1.7

1.3

111.78

132.36

u/ml

0.16

(3023103) Potassium [Moles/volume] in Serum or Plasma

722

3.91

2.95

12.5

14.4

4.00

3.98

mmol/l

0.22

709

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

8.73

2.78

1.2

1.5

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

3.39

2.74

1.3

1.4

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

231

2.03

2.61

4.2

3.2

—

(3023511) Choriogonadotropin [Units/volume] in Urine

7.48

2.58

2.4

1.1

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

7.48

2.58

4.0

3.4

—

(40761535) Cells panel - Urine sediment

3.08

2.58

1.5

4.3

—

(3015736) pH of Urine

250

2.00

2.54

2.6

3.2

—

(3009261) Glucose [Presence] in Urine by Test strip

326

1.94

2.40

3.6

3.5

0.00

estimate

—

(44806118)

4.86

2.31

1.0

2.0

—

(44790047)

4.86

2.31

1.0

2.0

—

(44790049)

4.86

2.31

1.0

2.0

—

(44790048)

4.86

2.31

1.0

2.0

—

(3035350) Ketones [Presence] in Urine by Test strip

320

1.91

2.30

3.6

3.5

0.00

estimate

—

(3021601) Nitrite [Presence] in Urine by Test strip

323

1.88

2.21

6.0

4.9

0.00

estimate

—

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

112

2.15

2.20

1.6

3.8

4.58

1.90

e6/l

0.59

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

2.19

2.15

8.4

14.9

25.85

24.89

mmol/l

0.63

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

121

2.09

2.13

1.5

3.1

0.95

0.82

e6/l

0.09

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

5.22

2.10

1.0

2.0

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

302

1.82

2.02

6.7

11.6

1.22

mmol/l

0.05

289

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

4.74

1.97

1.8

1.4

—

(3026008) Bacteria identified in Urine by Culture

133

1.98

1.94

2.8

2.2

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

3.36

1.92

1.6

1.4

—

(1761482) Bacteria [#/volume] in Urine by Culture

4.34

1.85

3.6

2.7

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

4.34

1.85

1.6

1.3

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

2.41

1.83

2.7

3.5

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

4.01

1.74

1.0

1.8

—

(4062490)

4.01

1.74

1.2

1.0

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

4.01

1.74

1.0

1.7

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

140

1.87

1.66

2.5

2.7

2.29

1.14

mg/l

0.28

115

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

2.11

1.66

1.8

1.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

443

1.71

1.62

3.2

3.9

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

317

1.69

1.62

3.3

3.9

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

2.56

1.58

5.6

20.4

—

(3007461) Platelets [#/volume] in Blood

848

+∞

1.57

18.3

17.5

252.39

260.24

e9/l

0.61

826

(3030467) Casts [#/volume] in Urine by Automated count

193

1.75

1.57

3.2

3.5

0.19

0.44

e6/l

0.79

140

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

3.47

1.54

1.0

1.1

—

(3000492) Spirometry study

2.09

1.54

1.5

1.4

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

3.25

1.46

1.0

1.1

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

3.25

1.46

1.0

1.7

—

(3003396) Base excess in Arterial blood by calculation

2.07

1.42

5.1

13.3

0.41

1.08

mmol/l

0.33

(3007853) Bacteria identified in Skin by Aerobe culture

1.97

1.42

1.3

1.7

—

(42870588) Differential panel, method unspecified - Blood

279

1.63

1.41

5.3

7.4

—

(3029937) Albumin [Presence] in Urine by Test strip

164

1.73

1.41

2.5

3.6

0.00

estimate

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

199

1.68

1.39

1.6

2.7

11.54

31.76

ng/l

2.17

110

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

157

1.72

1.36

1.6

2.5

—

(3044640) Blood type and Crossmatch panel - Blood

212

1.63

1.27

2.0

2.4

—

(3000330) Specific gravity of Urine by Test strip

2.50

1.26

4.0

2.2

—

(3002582) Erythrocytes [#/volume] in Urine

213

1.62

1.25

3.4

3.6

16.04

23.93

e6/l

0.37

161

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

2.59

1.16

1.0

1.1

—

(3019060) Gas panel - Arterial blood

2.21

1.08

2.3

6.4

—

(3031040) Bacteria [#/volume] in Urine by Automated count

401

1.49

1.04

3.8

—

94.67

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.08

1.02

7.4

22.1

0.71

0.72

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.08

1.02

7.4

22.3

95.73

93.23

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

101

1.71

1.02

2.0

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

1.81

1.02

1.8

1.9

—

(3042936) Bacteria identified in Isolate by Culture

1.74

1.01

1.1

2.1

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.99

0.0

1.3

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.02

0.99

7.4

21.6

1.00

1.77

—

(3003694) ABO and Rh group [Type] in Blood

209

1.50

0.91

1.4

1.5

—

(40761511) CBC panel - Blood by Automated count

766

1.90

0.85

11.5

10.2

—

(3000991) Gas panel - Venous blood

1.66

0.84

5.4

13.0

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

1.94

0.83

1.0

1.2

—

(3012544) pH of Venous blood

107

1.60

0.83

2.1

8.0

—

(4010399)

1.77

0.83

1.3

1.5

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.80

0.0

1.4

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

110

0.51

0.78

3.5

1.5

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

234

1.43

0.77

2.2

3.9

26.83

32.59

u/l

0.95

225

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

235

1.42

0.75

3.3

3.7

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

679

1.53

0.74

3.9

4.2

2.90

2.87

mmol/l

0.12

645

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

119

1.53

0.74

3.0

4.0

73.64

412.10

ng/l

1.37

(3009542) Hematocrit [Volume Fraction] of Blood

726

1.60

0.70

15.5

14.3

37.71

40.53

1.15

617

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

1.90

0.69

2.0

1.6

—

0.01

—

(36304419) Bacteria [Presence] in Urine

203

1.40

0.66

3.3

3.2

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

1.71

0.62

1.0

1.2

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.61

0.0

1.1

—

4.19

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.61

0.0

1.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.61

0.0

1.2

—

(40758558) Short blood count panel - Blood

216

1.36

0.59

7.0

—

(3026782) Osmolality of Urine

125

1.45

0.59

3.8

2.7

615.00

556.59

mosm/kgh2o

0.30

102

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

592

1.36

0.59

10.1

10.9

90.33

89.32

ml/min/173m2

0.16

476

(40768804) Tissue Pathology biopsy report

237

1.33

0.55

1.7

1.9

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

1.48

0.54

3.0

6.7

—

(3018095) Leukocytes [#/volume] in Urine

249

1.31

0.51

4.1

4.5

16.44

48.01

e6/l

0.92

170

(3000494) Fungus identified in Specimen by Culture

1.51

0.51

1.4

1.2

—

(3020682) Albumin/Creatinine [Ratio] in Urine

163

0.70

0.49

6.7

4.0

16.28

116.34

mg/mmol

—

103

(3022313) Gas panel - Capillary blood

1.53

0.49

10.2

13.6

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

1.46

0.47

1.7

2.3

39.64

24.33

iu/l

—

(40761536) Microorganisms panel - Urine sediment

1.46

0.47

5.6

3.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

168

1.33

0.46

3.8

2.6

—

(3013512) EKG study

141

1.35

0.45

2.7

3.0

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.42

0.43

1.5

1.8

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

1.54

0.42

9.2

5.9

3.56

3.60

g/l

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.54

0.42

2.8

9.2

0.86

1.87

—

(40760892) CBC W Ordered Manual Differential panel - Blood

161

1.31

0.42

6.7

5.0

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.41

0.0

1.0

—

0.00

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.41

0.0

1.0

—

0.00

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.41

0.0

1.0

—

0.00

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

0.41

0.0

1.2

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

0.00

0.40

0.0

1.3

—

(40768793) Breast Pathology biopsy report

0.00

0.39

0.0

1.2

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

1.46

0.36

1.5

1.9

—

(3001019) Free T4 and TSH panel - Serum or Plasma

1.46

0.36

1.7

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

1.39

0.35

1.3

2.9

4.62

5.11

pmol/l

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.68

0.35

2.7

1.7

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

142

0.74

0.34

1.6

2.3

2.37

2.91

mg/l

0.55

127

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

195

1.24

0.32

1.5

1.8

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

122

1.28

0.29

1.3

1.8

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.69

0.27

5.2

1.7

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

0.73

0.24

3.7

2.0

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

0.72

0.23

2.9

2.1

2.84

2.53

g/l

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

1.26

0.23

1.0

1.3

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.21

0.0

1.9

—

(3044941) Cell count panel - Synovial fluid

0.00

0.21

0.0

1.3

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.3

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.0

—

101.80

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

0.00

0.21

0.0

2.0

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

165

1.19

0.21

3.7

3.9

1.50

1.70

ug/l

0.25

146

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.21

0.0

3.0

—

17.33

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.21

0.0

1.5

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.20

0.0

1.1

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.20

0.0

1.7

—

(3025941) Bacteria identified in Stool by Culture

1.21

0.20

1.0

1.1

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.19

0.20

28.3

19.8

—

1.27

—

(3018418) pH of Serum or Plasma

177

1.17

0.18

3.7

3.9

7.38

7.41

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.76

0.17

2.2

1.5

—

(3002256) Pathology report gross observation

1.14

0.16

1.0

1.2

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

0.81

0.15

3.7

1.9

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

0.79

0.15

2.9

2.3

22.14

24.59

—

(3007164) IgA [Mass/volume] in Serum or Plasma

190

0.87

0.14

1.2

1.5

2.14

g/l

0.00

108

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

109

0.81

0.14

1.7

1.5

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

1.20

0.13

1.3

3.5

3.23

5.51

umol/l

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

1.17

0.10

3.8

1.9

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

146

1.12

0.09

2.9

2.0

—

(3000850) Epithelial cells [#/volume] in Urine

146

1.12

0.09

4.1

2.5

3.93

4.79

e6/l

0.24

125

(3021879) Hepatitis B virus core Ab [Presence] in Serum

1.07

0.08

1.3

1.5

—

(3022145) Colonoscopy Study observation

1.07

0.08

1.0

1.5

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

129

1.10

0.06

4.2

3.9

17.49

23.39

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

212

0.93

0.06

2.0

1.8

82.41

102.79

pmol/l

—

101

(3003458) Phosphate [Moles/volume] in Serum or Plasma

129

0.92

0.04

11.6

8.0

1.35

1.24

mmol/l

0.38

123

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

600

1.05

0.03

3.6

3.7

—

(1761868) Lipid panel - Serum or Plasma

271

1.05

0.03

3.5

2.3

—

(3022948) Iron [Moles/volume] in Serum or Plasma

102

0.98

0.00

2.5

2.2

13.33

14.28

umol/l

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

122

0.98

0.00

2.8

1.6

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

161

0.99

0.00

1.6

2.0

155.69

216.08

u/l

0.39

155

(3019420) Tryptase [Mass/volume] in Serum or Plasma

0.00

0.0

1.9

—

5.64

—

(3020717) Zinc [Moles/volume] in Serum or Plasma

0.00

0.0

3.0

—

22.64

—

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

0.00

0.0

1.0

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.1

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.9

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

1.4

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

0.0

36.0

—

148.29

—

(3003101) Alpha 1 antitrypsin [Mass/mass] in Stool

0.00

0.0

3.1

—

139.00

—

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

0.00

0.0

2.1

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.0

1.6

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.0

1.9

—

(40768797) Stomach Pathology biopsy report

0.91

0.00

1.4

1.2

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(3024522) Salmonella sp identified in Specimen by Organism specific culture

0.00

0.0

2.0

—

(3012494) Peanut IgE Ab [Units/volume] in Serum

0.00

0.0

1.6

—

3.36

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(4035726)

1.00

0.00

1.2

1.4

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

1.2

—

(3041672) Baker's yeast Ab [Presence] in Serum

0.00

0.0

1.2

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3025468) Yersinia sp identified in Specimen by Organism specific culture

0.00

0.0

2.0

—

(4146454)

0.00

0.0

5.0

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.8

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

0.00

0.0

2.0

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.1

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

0.72

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

0.0

1.2

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

2.8

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

0.00

0.0

1.8

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

0.00

0.0

2.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.1

—

(3000504) BK virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

0.0

7.3

—

(3013336) Amino acids [Identifier] in Serum or Plasma

0.00

0.0

1.2

—

(3032390) JC virus DNA [#/volume] (viral load) in Urine by NAA with probe detection

0.00

0.0

4.8

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.0

1.7

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3039602) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Capillary blood

0.00

0.0

2.2

—

1.25

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

0.0

1.3

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.4

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.1

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.0

24.0

—

1451.60

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

0.00

0.0

2.0

—

(3010838) Calcium [Moles/time] in 24 hour Urine

0.00

0.0

1.4

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.0

22.2

—

809.20

—

(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.0

1.3

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

2.2

—

(3003752) BK virus DNA [Units/volume] (viral load) in Urine by NAA with probe detection

0.00

0.0

4.8

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.4

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

0.87

0.00

1.5

3.5

24.83

29.00

u/l

—

(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC

0.00

0.0

1.2

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.0

1.0

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

2.2

—

(3002621) Streptococcal DNAse B [Units/volume] in Serum

0.00

0.0

1.0

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

0.0

2.0

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

0.0

1.8

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.3

—

(3034988) Calcium [Moles/volume] in Capillary blood

0.00

0.0

2.0

—

1.21

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

0.0

1.8

—

1.52

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.5

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.94

0.00

4.4

2.0

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

0.0

1.1

—

(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma

0.00

0.0

9.4

—

0.57

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3042299) inFLIXimab [Mass/volume] in Serum or Plasma

0.00

0.0

3.6

—

8.56

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

0.0

1.3

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

0.0

2.7

—

155.50

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

0.00

0.0

1.8

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_LUNG and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_LUNG.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_MALFO_LUNG – Congenital malformations of lung

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Congenital malformations of lung

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints