Other congenital malformations of respiratory system

Q17_OTHER_CONGEN_MALFO_RESPI_SYSTEM

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 — Q34 Cause of death: ICD-10 — Q34 2 out of 7 registries used, show all original rules.	75
4. Check minimum number of events None	75
5. Include endpoints None	75
6. Filter based on genotype QC (FinnGen only)	68

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: Aliae malformationes congenitae systematis respiratorii

NAME	Q17_OTHER_CONGEN_MALFO_RESPI_SYSTEM
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	Q34
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q34
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 Other congenital malformations of respiratory system 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	457	225	232
Only index persons	393	196	197
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	-	43.31	33.85
Only index persons	45.30	46.54	44.08

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	68	38	30
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	44.39	43.55	45.46

-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

No data

-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
69: Matched controls
690

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q34.1

ICD-10 Finland

Congenital cyst of mediastinum

+∞

50.3

Q34.0

ICD-10 Finland

Anomaly of pleura

+∞

15.1

UGC12

NOMESCO Finland

Flexible bronchoscopy

14.7

10.8

R91

ICD-10 Finland

Abnormal findings on diagnostic imaging of lung

9.6

10.0

Q34.88

ICD-10 Finland

Other specified congenital malformations of respiratory system

+∞

8.5

GEB30

NOMESCO Finland

Mediastinotomy and excision of lesion

+∞

7.4

D38.3

ICD-10 Finland

Neoplasm of uncertain or unknown behaviour: Mediastinum

+∞

7.4

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

4.5

7.0

Q33.08

ICD-10 Finland

Congenital cystic lung

+∞

6.3

R4110

NOMESCO Finland

Physiotherapy

3.5

6.2

149

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3019977) pH of Arterial blood

4.95

7.78

8.3

15.3

7.42

7.43

0.24

(3042936) Bacteria identified in Isolate by Culture

3.75

5.89

1.3

2.4

—

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

133

3.42

5.76

2.9

3.1

—

(3000991) Gas panel - Venous blood

3.88

5.70

11.7

13.3

—

(3000494) Fungus identified in Specimen by Culture

3.86

5.49

1.3

1.5

—

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

7.40

5.36

2.6

2.4

—

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

3.57

5.22

6.5

14.1

104.14

104.55

mmol/l

0.21

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

3.67

5.12

3.3

2.0

—

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

3.50

4.78

3.3

2.0

—

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

3.20

4.43

3.4

2.1

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

10.94

4.11

1.0

—

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

267

2.79

4.03

3.2

3.3

—

estimate

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

4.46

3.95

10.9

20.7

0.55

0.66

0.42

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

9.56

3.87

1.1

1.0

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

9.56

3.87

1.1

1.0

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

4.33

3.85

11.2

20.4

0.84

1.19

1.13

(3014007) Fractional oxyhemoglobin in Arterial blood

4.33

3.85

11.2

20.5

95.05

94.72

0.09

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

6.29

3.80

1.1

1.4

—

(3045788) Cell count panel - Pleural fluid

10.78

3.56

2.3

1.7

—

(40768797) Stomach Pathology biopsy report

2.94

3.52

1.3

1.2

—

(3020682) Albumin/Creatinine [Ratio] in Urine

167

2.55

3.49

4.0

3.9

6.30

12.11

mg/mmol

0.57

111

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

107

2.72

3.46

4.7

4.0

15.94

123.67

ng/l

1.37

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

144

2.59

3.46

2.2

3.0

1.17

1.27

mg/l

0.06

120

(3001604) Monocytes [#/volume] in Blood

319

2.66

3.45

10.3

9.2

0.54

0.60

e9/l

1.07

274

(3006315) Basophils [#/volume] in Blood

319

2.66

3.45

10.2

9.2

0.04

e9/l

0.08

272

(3023368) Bacteria identified in Blood by Culture

153

2.54

3.39

6.2

4.7

—

(3018418) pH of Serum or Plasma

161

2.53

3.38

6.5

3.8

7.39

7.40

0.25

115

(42870588) Differential panel, method unspecified - Blood

222

2.44

3.25

11.3

9.7

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

3.81

3.21

3.1

1.8

—

(3019198) Lymphocytes [#/volume] in Blood

326

2.55

3.19

10.2

9.1

2.06

2.10

e9/l

0.07

287

(3012544) pH of Venous blood

2.81

3.14

6.1

10.6

7.38

7.37

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

8.07

3.12

1.5

1.3

—

(3036782) Glucose [Moles/volume] in Pleural fluid

8.07

3.12

1.2

1.4

6.27

8.06

mmol/l

—

(3044290) Cell count panel - Cerebral spinal fluid

4.76

3.12

1.7

5.1

—

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

6.35

3.10

2.4

1.7

—

(3012516) Albumin [Mass/volume] in Urine

167

2.41

3.07

3.1

3.4

30.19

73.84

mg/l

1.04

111

(3013115) Eosinophils [#/volume] in Blood

330

2.49

3.04

11.1

9.8

0.16

0.19

e9/l

1.09

287

(3009508) Creatinine [Moles/volume] in Urine

194

2.34

2.97

4.2

3.1

7.49

7.94

mmol/l

0.20

179

(3002256) Pathology report gross observation

2.92

2.94

1.3

1.1

—

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

102

2.52

2.85

6.2

3.0

7.60

1.29

e6/l

—

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

357

2.45

2.81

8.1

4.6

—

30.43

—

(3044640) Blood type and Crossmatch panel - Blood

181

2.29

2.80

3.8

2.9

—

(40768804) Tissue Pathology biopsy report

207

2.27

2.78

2.3

1.8

—

(3000492) Spirometry study

2.81

2.77

1.8

1.5

—

(3022096) Basophils/Leukocytes in Blood

301

2.27

2.68

11.0

9.3

0.64

0.67

0.12

284

(3014051) Protein [Presence] in Urine by Test strip

184

2.24

2.67

4.0

3.2

—

(3019069) Monocytes/Leukocytes in Blood

302

2.26

2.65

11.1

9.3

8.66

8.59

0.06

287

(3006504) Eosinophils/Leukocytes in Blood

302

2.26

2.65

11.1

9.2

2.33

2.96

1.80

286

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

169

2.24

2.60

9.0

3.4

0.13

0.32

e6/l

0.84

122

(36304419) Bacteria [Presence] in Urine

169

2.24

2.60

8.9

3.3

—

estimate

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

7.58

2.59

1.4

1.1

319.00

229.57

u/l

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

7.58

2.59

1.2

1.1

—

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

3.82

2.59

1.8

1.7

—

(3019230) Fractional oxyhemoglobin in Venous blood

4.74

2.54

1.6

29.9

79.86

71.91

—

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

361

2.23

2.35

18.3

13.2

3.96

3.86

e9/l

0.10

308

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

3.79

2.35

1.9

1.7

—

(3002030) Lymphocytes/Leukocytes in Blood

311

2.14

2.35

11.1

9.2

28.24

30.68

0.63

299

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

111

2.28

2.33

6.1

2.9

0.56

0.90

e6/l

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

211

2.08

2.28

4.8

3.5

2.36

mmol/l

0.07

200

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

5.89

2.25

1.8

1.3

—

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

3.07

2.25

1.7

1.3

—

(3016018) Differential panel - Cerebral spinal fluid

4.58

2.20

1.7

6.2

—

(4035726) Immunohistochemistry procedure

2.98

2.18

1.7

1.2

—

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

2.98

2.18

1.4

1.8

—

(3018095) Leukocytes [#/volume] in Urine

223

2.03

2.16

10.8

4.3

10.71

70.55

e6/l

0.93

158

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.90

2.11

1.6

1.3

—

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

5.29

2.10

2.2

1.6

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

3.08

2.09

7.9

3.6

29.26

84.72

u/ml

—

(44806118) Parainfluenza type 4 nucleic acid detection

4.27

2.08

1.8

1.7

—

(44790048) Parainfluenza type 2 nucleic acid detection

4.27

2.08

1.8

1.7

—

(44790047) Parainfluenza type 1 nucleic acid detection

4.27

2.08

1.8

1.7

—

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

4.27

2.08

2.0

1.6

—

(21494815) CD4 cells/Lymphocytes in Specimen

4.27

2.08

4.0

5.1

37.75

40.63

—

(3023410) Appearance of Cerebral spinal fluid

4.27

2.08

1.7

6.6

—

(44790049) Parainfluenza type 3 nucleic acid detection

4.27

2.08

1.8

1.7

—

(3018010) Neutrophils/Leukocytes in Blood

312

2.00

2.02

10.6

8.9

57.26

54.79

0.58

300

(3037522) Nuclear Ab [Titer] in Serum

2.27

2.01

1.2

1.5

—

465.45

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

4.00

1.98

2.0

1.3

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

4.00

1.98

2.0

1.3

—

(3035637) Corticotropin [Mass/volume] in Plasma

4.80

1.97

1.2

2.0

16.60

25.55

ng/l

—

(3023520) Reticulocytes [#/volume] in Blood

2.44

1.92

3.2

5.6

75.27

73.24

e9/l

—

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

104

2.14

1.92

3.8

2.3

2.28

2.41

g/l

0.38

(40758558) Short blood count panel - Blood

196

1.94

1.87

15.2

7.7

—

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

2.75

1.75

2.7

2.1

—

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

4.06

1.74

4.4

6.8

—

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

2.48

1.74

1.3

1.4

—

(36660697) Celiac disease serology panel - Serum

2.25

1.74

1.4

1.2

—

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

3.00

1.70

1.3

9.2

3.66

3.02

g/l

—

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

2.27

1.67

31.2

20.9

25.07

24.34

mmol/l

0.34

(3023511) Choriogonadotropin [Units/volume] in Urine

3.76

1.64

1.2

1.6

—

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

3.76

1.64

2.4

1.7

—

(3021589) Normoblasts [#/volume] in Blood

288

1.81

1.60

16.6

14.1

0.01

0.00

e9/l

0.49

234

(3019060) Gas panel - Arterial blood

2.61

1.59

2.9

5.2

—

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

145

1.88

1.55

2.7

2.4

2.49

2.53

mg/l

0.04

138

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

3.03

1.54

1.0

1.2

—

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

155

1.84

1.50

1.5

1.8

—

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

2.37

1.48

4.4

2.2

—

(3011412) CD3 cells [#/volume] in Blood

3.28

1.46

4.4

5.4

1554.00

2236.50

e6/l

—

(3021960) Folate [Moles/volume] in Serum or Plasma

165

1.81

1.45

2.1

1.7

19.39

23.91

nmol/l

1.12

149

(3002582) Erythrocytes [#/volume] in Urine

202

1.75

1.40

9.2

3.4

21.93

34.46

e6/l

0.28

158

(40768443) Skin Pathology biopsy report

2.76

1.40

1.2

—

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

2.76

1.40

1.3

1.5

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.45

1.32

1.4

15.5

0.46

0.61

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

2.91

1.31

1.2

1.9

—

(3026782) Osmolality of Urine

112

1.82

1.24

8.6

2.8

587.15

541.09

mosm/kgh2o

0.30

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

108

0.42

1.13

2.2

2.0

—

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

231

1.62

1.12

3.3

2.0

97.50

98.17

pmol/l

0.03

107

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

108

1.76

1.09

6.1

2.4

2.49

2.44

mmol/l

0.88

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

2.37

1.05

1.0

0.00

g/l

—

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

2.37

1.05

1.0

0.00

g/l

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

2.00

1.03

1.2

1.1

—

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

303

1.57

1.00

6.0

3.8

0.00

estimate

—

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

2.25

0.94

1.7

7.5

191.00

164.21

—

(3003327) Ova and parasites identified in Stool by Light microscopy

2.17

0.92

1.8

1.5

—

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

185

1.55

0.90

1.4

1.7

—

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

158

1.58

0.90

2.3

1.7

1.99

2.09

g/l

0.11

(3015736) pH of Urine

251

1.51

0.88

4.9

3.4

6.12

6.16

0.06

137

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

2.02

0.86

1.0

1.4

—

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

2.02

0.86

1.5

8.3

96.00

87.61

—

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

1.85

0.85

1.6

1.9

—

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

126

1.58

0.81

3.2

2.2

—

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

313

1.48

0.80

6.4

3.8

215.43

0.00

estimate

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

2.26

0.78

1.2

2.3

—

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

2.26

0.78

1.0

1.1

0.00

g/l

—

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

513

1.64

0.77

28.9

14.1

89.57

84.63

ml/min/173m2

0.95

473

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

2.17

0.76

1.8

1.3

1.17

1.07

g/l

—

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.17

0.76

1.0

11.60

11.08

g/l

—

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

1.70

0.76

1.7

1.3

36.22

507.47

u/ml

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

2.08

0.74

1.0

1.4

0.00

1.14

g/l

—

(3011288) Drugs identified in Urine by Screen method Nominal

1.92

0.70

3.6

1.4

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

1.85

0.67

1.0

1.5

3.86

2.85

g/l

—

(3022313) Gas panel - Capillary blood

1.66

0.67

41.4

9.9

—

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

1.72

0.62

1.0

1.5

4.20

3.84

g/l

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

1.72

0.62

1.4

1.2

—

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

1.72

0.62

1.0

1.5

4.42

4.38

g/l

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

1.72

0.62

1.0

1.5

9.64

7.53

g/l

—

(3026008) Bacteria identified in Urine by Culture

161

1.44

0.62

5.2

2.8

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.61

0.0

1.4

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.61

0.0

1.2

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.61

0.0

1.2

—

(3016879) Cocaine [Presence] in Urine

1.68

0.57

1.3

—

(3000764) Benzodiazepines [Presence] in Urine

1.63

0.56

1.3

—

(40761535) Cells panel - Urine sediment

1.59

0.54

2.3

2.5

—

(3027944) Amphetamines [Presence] in Urine

1.59

0.54

1.3

1.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.55

0.53

1.2

2.2

—

(3027008) Opiates [Presence] in Urine

1.55

0.53

1.3

—

(3028300) Cannabinoids [Presence] in Urine

1.55

0.53

1.3

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

1.66

0.44

1.6

1.9

—

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

180

1.33

0.43

2.4

2.2

91.55

231.80

u/l

0.83

175

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.42

0.0

1.1

—

(4024509) Urine culture

0.00

0.41

0.0

2.5

—

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

116

1.37

0.41

3.9

3.7

15.24

19.93

—

(3019150) Specific gravity of Urine by Refractometry

144

1.34

0.41

2.8

3.6

1.02

kg/l

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.40

0.0

1.6

—

(1002224) Polysomnography panel

1.46

0.40

1.0

1.1

—

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

1.35

0.32

3.1

2.2

0.66

0.73

ug/l

—

(3022145) Colonoscopy Study observation

1.30

0.29

1.1

1.4

—

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

1.28

0.29

4.5

6.3

—

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

114

1.29

0.28

1.7

1.6

—

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

1.31

0.26

1.6

1.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

144

1.24

0.25

5.9

5.6

—

(40761536) Microorganisms panel - Urine sediment

1.27

0.23

13.4

3.3

—

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

0.00

0.21

0.0

1.1

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

1.30

0.21

47.0

9.4

25.30

24.28

mmol/l

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.21

0.0

5.9

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.21

0.0

1.0

—

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

0.00

0.20

0.0

2.1

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.23

0.17

2.2

1.7

—

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

1.22

0.15

1.4

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

176

0.88

0.11

6.3

3.3

0.00

estimate

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

1.09

0.10

1.2

1.0

—

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

235

0.91

0.09

5.3

3.5

0.00

estimate

—

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

194

0.90

0.08

3.9

3.7

15.74

39.98

ng/l

1.11

119

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

439

1.07

0.05

4.6

3.6

—

(1761868) Lipid panel - Serum or Plasma

241

1.06

0.03

2.5

2.8

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

104

1.07

0.01

1.2

1.8

500.57

515.16

pmol/l

0.07

(3013512) EKG study

168

1.02

0.00

1.9

3.4

—

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

167

1.02

0.00

6.5

3.5

0.00

estimate

—

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

0.00

0.0

1.1

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

0.00

0.0

1.1

—

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

0.00

0.0

1.7

—

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

0.00

0.0

3.9

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

0.00

0.0

4.8

—

4.15

—

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

0.00

0.0

1.3

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(3022493) Free Hemoglobin [Mass/volume] in Plasma

0.00

-0.00

0.0

2.0

—

101.20

—

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

0.00

-0.00

0.0

1.2

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.2

—

1.20

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.5

—

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

0.91

-0.00

4.6

2.5

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.97

-0.00

2.4

2.0

—

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

0.00

-0.00

0.0

2.2

—

1.25

—

(4198724) Urine methamphetamine measurement

0.00

-0.00

0.0

1.2

—

(3002079) Sodium [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.0

—

149.53

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.2

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.2

—

107.33

—

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

0.00

-0.00

0.0

1.2

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.96

-0.00

1.2

1.4

—

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

0.00

-0.00

0.0

2.1

—

1.23

—

(3022756) Ceruloplasmin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

291.80

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.4

—

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

0.95

-0.00

4.1

2.3

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

-0.00

0.0

1.5

—

8.50

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.2

—

3.95

—

(3040370) OLANZapine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.4

—

128.80

—

(3042631) Mycobacterium sp identified in Specimen

0.00

-0.00

0.0

5.5

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_RESPI_SYSTEM and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_RESPI_SYSTEM.

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_OTHER_CONGEN_MALFO_RESPI_SYSTEM – Other congenital malformations of respiratory system

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

Other congenital malformations of respiratory 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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints