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	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	101
4. Check minimum number of events None	101
5. Include endpoints None	101
6. Filter based on genotype QC (FinnGen only)	90

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	90	48	42
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	43.04	45.70	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

↥

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
96: Matched controls
960

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

R91

ICD-10 Finland

Abnormal findings on diagnostic imaging of lung

13.7

30.2

Q33.2

ICD-10 Finland

Sequestration of lung

+∞

29.7

Q33.08

ICD-10 Finland

Congenital cystic lung

+∞

22.8

Q33.6

ICD-10 Finland

Hypoplasia and dysplasia of lung

+∞

12.8

UGC12

NOMESCO Finland

Flexible bronchoscopy

12.0

J18.9

ICD-10 Finland

Pneumonia, unspecified

4.5

11.1

122

Q33.00

ICD-10 Finland

Solitary congenital cyst in the lungs

+∞

9.5

Q33.9

ICD-10 Finland

Congenital malformation of lung, unspecified

+∞

9.5

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.5

8.5

272

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.2

8.4

GD1BD

NOMESCO Finland

Thorax extensive CT-examination

8.5

7.6

GDC00

NOMESCO Finland

Lobectomy of lung

86.5

7.5

Q33.80

ICD-10 Finland

Congenital [cystic] adenomatoid malformation of lung

+∞

7.4

Q33.4

ICD-10 Finland

Congenital bronchiectasis

+∞

7.4

R03AC02

ATC

salbutamol; inhalant

3.4

7.0

411

XG412

NOMESCO Finland

Flow-volume spirometry with bronchospasmolysis

6.4

6.7

UGC02

NOMESCO Finland

Rigid bronchoscopy

28.8

6.3

Q34.1

ICD-10 Finland

Congenital cyst of mediastinum

+∞

6.3

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

11.11

6.21

3.2

1.4

—

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

6.37

4.94

2.8

1.9

—

(3023368) Bacteria identified in Blood by Culture

177

2.65

4.78

3.8

4.6

—

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

7.81

3.94

1.0

1.5

—

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

6.60

3.58

1.5

—

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

4.30

3.41

1.2

1.9

—

(3032080) INR in Blood by Coagulation assay

277

2.18

3.40

8.6

1.08

1.10

inr

0.11

228

(3015736) pH of Urine

334

2.12

3.25

2.8

3.5

6.38

6.15

0.71

181

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

4.00

3.20

1.0

1.8

—

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

420

2.14

3.19

3.7

3.8

0.00

estimate

-0.00

(3042631) Mycobacterium sp identified in Specimen

10.44

3.01

2.4

1.4

—

(3011951) Aspergillus fumigatus IgE Ab [Units/volume] in Serum

10.44

3.01

1.2

1.6

0.20

8.26

u/ml

—

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

300

2.02

2.87

4.0

3.1

0.25

0.00

estimate

—

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

415

2.00

2.74

3.7

0.00

estimate

-0.00

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

147

2.16

2.69

1.7

3.4

0.83

0.85

e6/l

0.02

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

417

1.99

2.69

3.7

3.8

0.00

estimate

—

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

173

2.07

2.57

2.2

2.7

1.87

1.12

mg/l

0.23

141

(42870588) Differential panel, method unspecified - Blood

331

1.90

2.44

6.3

8.3

—

(3000492) Spirometry study

100

2.26

2.42

1.6

1.4

—

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

243

1.93

2.42

1.9

2.7

10.38

28.84

ng/l

2.74

136

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

6.52

2.40

4.0

3.3

—

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

361

1.88

2.38

2.6

2.9

—

estimate

—

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

2.56

2.35

2.7

3.6

—

(3042936) Bacteria identified in Isolate by Culture

109

2.19

2.33

1.2

2.2

—

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

3.70

2.33

1.5

1.7

—

(4062490) Immunoglobulin typing, IgG

4.84

2.31

1.7

1.0

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

4.11

2.30

1.3

1.6

—

(3019150) Specific gravity of Urine by Refractometry

189

1.95

2.25

3.3

3.2

1.02

kg/l

0.53

126

(3037467) Urinalysis macro (dipstick) panel - Urine

515

1.90

2.20

3.9

4.3

—

(3023511) Choriogonadotropin [Units/volume] in Urine

4.49

2.18

2.2

1.2

—

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

4.49

2.18

1.7

1.6

—

(3013512) EKG study

191

1.92

2.17

2.4

2.9

—

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

184

1.92

2.13

1.8

2.7

—

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

136

2.02

2.12

2.0

4.0

4.58

1.99

e6/l

0.57

(3019977) pH of Arterial blood

2.29

2.11

5.4

15.4

7.40

7.42

—

(44790048) Parainfluenza type 2 nucleic acid detection

3.69

2.10

1.0

2.0

—

(44806118) Parainfluenza type 4 nucleic acid detection

3.69

2.10

1.0

2.0

—

(44790047) Parainfluenza type 1 nucleic acid detection

3.69

2.10

1.0

2.0

—

(44790049) Parainfluenza type 3 nucleic acid detection

3.69

2.10

1.0

2.0

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

5.20

2.09

1.8

1.9

—

(3044640) Blood type and Crossmatch panel - Blood

253

1.83

2.09

2.1

2.5

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

4.19

2.07

1.7

1.5

—

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

4.73

1.96

1.0

1.9

—

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

2.81

1.92

1.3

1.4

—

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

2.08

1.86

2.3

2.0

—

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

4.33

1.84

1.6

1.2

—

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

3.20

1.83

1.6

1.3

—

(3000494) Fungus identified in Specimen by Culture

2.05

1.81

1.3

—

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

113

1.97

1.77

8.9

19.1

25.71

24.93

mmol/l

0.50

113

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

3.48

1.77

1.3

1.7

—

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

3.99

1.73

3.8

2.6

—

(3003396) Base excess in Arterial blood by calculation

2.12

1.70

5.6

15.3

0.33

1.12

mmol/l

0.45

(3026008) Bacteria identified in Urine by Culture

172

1.79

1.67

2.8

2.3

—

(3017732) Neutrophils [#/volume] in Blood

2.01

1.64

2.1

3.2

4.88

4.23

e9/l

0.45

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

3.71

1.63

1.0

1.7

—

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

3.13

1.61

1.3

1.6

—

(3011288) Drugs identified in Urine by Screen method Nominal

0.00

1.56

0.0

1.5

—

(3013115) Eosinophils [#/volume] in Blood

492

1.66

1.55

8.6

8.0

0.19

0.20

e9/l

0.18

431

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

3.46

1.54

1.4

1.1

—

(3010421) pH of Blood

2.98

1.53

3.2

3.0

7.41

7.42

—

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

144

1.79

1.50

3.2

3.9

51.94

351.63

ng/l

1.56

104

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

212

1.68

1.49

2.3

3.6

0.00

estimate

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.87

1.38

1.8

1.7

—

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

470

1.59

1.38

4.0

4.2

—

80.88

—

(3012544) pH of Venous blood

123

1.79

1.38

2.1

10.3

7.37

0.16

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

3.04

1.37

1.0

1.1

—

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

252

1.61

1.37

1.5

—

(3019060) Gas panel - Arterial blood

2.47

1.33

2.1

6.3

—

(3001604) Monocytes [#/volume] in Blood

483

1.57

1.32

8.3

7.6

0.56

0.57

e9/l

0.22

411

(3006315) Basophils [#/volume] in Blood

483

1.57

1.32

8.3

7.7

0.03

0.04

e9/l

0.50

408

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

2.87

1.30

1.6

3.2

—

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

126

1.74

1.27

2.3

2.1

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

2.27

1.25

1.5

6.5

45.18

53.84

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

1.82

1.23

2.4

10.9

23.76

mmol/l

0.00

(21494755) Public health laboratory ask at order entry panel

110

0.42

1.22

1.2

1.3

—

(3018010) Neutrophils/Leukocytes in Blood

451

1.51

1.16

7.9

7.5

55.59

53.91

0.49

439

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

225

1.56

1.15

3.8

3.7

0.18

0.41

e6/l

0.76

158

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

1.76

1.12

2.4

2.0

—

(40758558) Short blood count panel - Blood

282

1.51

1.09

8.4

6.2

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

1.74

1.08

4.4

14.2

106.88

104.28

mmol/l

1.39

(3019198) Lymphocytes [#/volume] in Blood

496

1.49

1.07

8.4

7.6

2.08

2.18

e9/l

0.27

435

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

2.22

0.93

1.0

1.1

—

4.40

—

(3035933) Granulocytes/Leukocytes in Blood

2.22

0.93

2.2

2.7

59.90

54.31

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.89

0.88

2.1

14.6

0.76

1.63

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.85

0.87

8.5

22.9

0.65

0.66

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.85

0.87

8.5

23.1

95.64

92.64

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.81

0.85

8.5

22.5

0.99

1.60

—

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

698

1.52

0.84

12.7

12.8

90.42

89.62

ml/min/173m2

0.14

627

(3015171) Extractable nuclear Ab [Units/volume] in Serum

1.87

0.80

1.2

1.3

—

(3002582) Erythrocytes [#/volume] in Urine

260

1.41

0.79

3.9

14.55

21.07

e6/l

0.35

193

(40760892) CBC W Ordered Manual Differential panel - Blood

196

1.45

0.79

6.4

5.1

—

(40768804) Tissue Pathology biopsy report

279

1.40

0.79

1.7

1.9

—

(40761511) CBC panel - Blood by Automated count

854

1.86

0.78

13.5

10.9

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

524

1.39

0.78

9.5

11.4

3.89

3.82

e9/l

0.09

450

(4024509) Urine culture

2.05

0.74

1.0

1.6

—

(3021589) Normoblasts [#/volume] in Blood

427

1.36

0.73

11.6

11.2

0.00

e9/l

0.49

336

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.67

0.72

1.5

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

265

0.69

0.72

1.5

1.6

18.76

2.76

u/ml

—

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

1.76

0.71

1.0

1.1

—

3.22

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.72

0.70

2.0

15.3

0.54

0.68

—

(3020891) Body temperature

1.90

0.69

1.2

9.0

36.90

37.03

°c

—

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

1.68

0.68

1.0

1.2

—

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

1.69

0.64

1.5

3.2

4.95

5.06

pmol/l

—

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

0.00

0.61

0.0

2.9

—

0.00

—

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

0.00

0.60

0.0

1.3

—

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

0.00

0.60

0.0

1.1

—

(40768793) Breast Pathology biopsy report

0.00

0.59

0.0

1.3

—

(36660697) Celiac disease serology panel - Serum

109

0.61

0.52

1.3

—

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

1.55

0.52

2.8

6.4

—

(3022313) Gas panel - Capillary blood

1.51

0.50

12.2

13.3

—

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

141

0.68

0.49

3.3

1.6

—

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

1.50

0.46

1.8

1.7

—

(3022145) Colonoscopy Study observation

1.46

0.45

1.0

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

224

1.29

0.45

3.9

2.6

0.00

estimate

—

(3000991) Gas panel - Venous blood

105

1.39

0.44

6.7

14.7

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

1.65

0.43

1.8

2.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

169

1.31

0.43

1.5

2.0

—

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

254

1.26

0.43

1.7

1.8

—

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

1.59

0.43

1.0

1.1

—

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

0.00

0.41

0.0

3.1

—

18.07

—

(3034274) Bile acid [Moles/volume] in Serum --fasting

0.00

0.41

0.0

3.1

—

9.59

—

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

1.50

0.41

1.8

1.6

—

0.01

—

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

0.00

0.39

0.0

3.1

—

0.00

—

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

0.00

0.39

0.0

1.9

—

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

0.00

0.39

0.0

3.1

—

0.00

—

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

292

0.81

0.36

2.0

1.9

84.46

102.52

pmol/l

1.00

139

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

1.42

0.36

7.8

5.7

3.63

3.42

g/l

—

(3018418) pH of Serum or Plasma

221

1.24

0.36

3.5

4.3

7.38

7.39

1.12

155

(3009508) Creatinine [Moles/volume] in Urine

269

0.81

0.33

3.0

3.7

8.15

8.13

mmol/l

0.01

240

(3026782) Osmolality of Urine

148

1.27

0.32

4.1

2.7

553.00

530.59

mosm/kgh2o

0.16

127

(1002224) Polysomnography panel

1.37

0.32

1.1

—

(1761868) Lipid panel - Serum or Plasma

343

1.18

0.28

3.7

2.8

—

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

1.25

0.28

3.9

2.2

—

(3012516) Albumin [Mass/volume] in Urine

212

0.81

0.27

3.9

3.5

60.13

41.36

mg/l

0.14

137

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

105

1.28

0.26

1.5

3.7

3.10

5.10

umol/l

2.24

(3019832) Treponema pallidum Ab [Presence] in Serum

102

0.76

0.22

4.6

1.8

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.0

—

101.80

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

2.5

—

0.80

—

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

1.16

0.19

1.7

—

(40761536) Microorganisms panel - Urine sediment

1.25

0.19

6.3

3.1

—

(3018095) Leukocytes [#/volume] in Urine

306

1.12

0.16

4.8

5.1

20.37

41.29

e6/l

0.63

202

(3020682) Albumin/Creatinine [Ratio] in Urine

211

0.88

0.15

5.3

4.2

9.23

88.51

mg/mmol

0.47

134

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

151

1.15

0.14

1.2

1.3

1.17

2.76

u/ml

—

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

210

1.13

0.13

1.7

2.0

130.04

186.00

u/l

0.53

204

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

191

1.13

0.13

4.0

4.2

1.34

1.67

ug/l

0.61

170

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

126

0.86

0.12

1.8

1.6

—

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

1.18

0.11

1.5

1.6

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

115

0.85

0.11

1.8

2.0

1.24

1.40

—

107

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

1.17

0.10

3.6

4.7

140.60

178.51

—

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

1.09

0.10

1.0

1.4

—

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

165

0.89

0.09

3.0

1.7

—

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

1.14

0.09

1.5

1.9

—

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

147

1.11

0.08

4.2

3.9

19.32

23.06

—

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

1.09

0.08

4.4

2.3

—

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

132

0.90

0.07

3.7

2.2

—

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

191

1.06

0.03

3.5

2.1

—

(3027945) Reticulocytes/Erythrocytes in Blood

1.10

0.03

1.4

3.6

1.34

1.71

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

163

1.05

0.01

1.4

1.3

20.92

27.58

iu/ml

—

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

664

1.03

0.00

3.6

3.8

—

(3002256) Pathology report gross observation

1.02

0.00

1.0

1.2

—

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

152

0.98

0.00

9.9

9.0

1.32

1.24

mmol/l

0.31

141

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

123

0.97

0.00

3.6

2.1

—

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

247

1.02

0.00

1.4

1.6

2.38

2.08

g/l

0.49

143

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

174

0.97

0.00

4.5

2.8

5.64

4.42

e6/l

0.23

152

(3025941) Bacteria identified in Stool by Culture

0.93

0.00

1.0

1.1

—

(3006922) Hepatitis E virus Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

0.02

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.8

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

11.3

—

0.59

—

(3037756) Immunofixation for Serum or Plasma

0.00

-0.00

0.0

3.1

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

2.1

—

(44813793) Dust mix specific IgE antibody measurement

0.00

-0.00

0.0

1.2

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

7.86

—

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

0.00

-0.00

0.0

1.2

—

(3044927) Protein electrophoresis panel - Urine

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.2

—

0.80

—

(3045142) Bone marrow Pathology biopsy report

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

3.4

—

137.57

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.1

—

(3020485) Acetaminophen [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.3

—

(3011841) English Walnut IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.4

—

3.27

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.8

—

(42528717) Cashew nut recombinant (rAna o) 3 IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.6

—

28.82

—

(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection

0.00

-0.00

0.0

4.8

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

(3009871) Measles virus Ab [Titer] in Serum

0.00

-0.00

0.0

2.2

—

(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

1332.20

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

(3038769) Chlamydophila pneumoniae IgG Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.1

—

29.33

—

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

0.00

-0.00

0.0

3.2

—

158.33

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

5.0

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

1.2

—

(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

-0.00

0.0

2.9

—

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

0.00

-0.00

0.0

1.7

—

(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum

0.00

-0.00

0.0

1.2

—

(3002222) Hepatitis E virus IgM Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

-0.00

0.0

39.7

—

148.00

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.7

—

5.77

—

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

0.00

-0.00

0.0

1.0

—

21.83

—

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

0.00

-0.00

0.0

1.2

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.1

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

6.4

—

(4035726) Immunohistochemistry procedure

0.89

-0.00

1.2

1.4

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.8

—

6.24

—

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

0.00

-0.00

0.0

1.3

—

(3029023) Hepatitis E virus IgG Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.0

—

1.24

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

2.0

—

1.63

—

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

0.00

-0.00

0.0

24.5

—

775.17

—

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

0.00

-0.00

0.0

1.1

—

(40768797) Stomach Pathology biopsy report

0.94

-0.00

1.3

1.2

—

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

0.00

-0.00

0.0

1.8

—

1.52

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.8

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

25.8

—

1410.50

—

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

0.00

-0.00

0.0

9.7

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.98

-0.00

22.8

5.7

94.40

92.02

—

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

0.00

-0.00

0.0

2.0

—

1.21

—

(3022411) Androstenedione [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

2.00

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

3.5

—

7.40

—

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

0.00

-0.00

0.0

1.4

—

89.56

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints