Congenital malformations of larynx

Q17_CONGEN_MALFO_LARYNX

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 — Q31 Cause of death: ICD-10 — Q31 2 out of 7 registries used, show all original rules.	105
4. Check minimum number of events None	105
5. Include endpoints None	105
6. Filter based on genotype QC (FinnGen only)	105

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 laryngis

NAME	Q17_CONGEN_MALFO_LARYNX
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	Q31
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q31
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 larynx 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	2624	1091	1532
Only index persons	1351	574	777
Unadjusted period prevalence (%)
Whole population	0.04	0.03	0.04
Only index persons	0.03	0.02	0.03
Median age at first event (years)
Whole population	0.34	0.30	0.37
Only index persons	0.49	0.48	0.49

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	105	54	51
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	6.99	12.80	0.84

-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
97: Matched controls
969

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q31.40

ICD-10 Finland

Congenital laryngomalasia

+∞

54.4

Q31.3

ICD-10 Finland

Laryngocele

+∞

26.2

UGC12

NOMESCO Finland

Flexible bronchoscopy

19.4

15.9

Q31.1

ICD-10 Finland

Congenital subglottic stenosis

+∞

13.9

UGC02

NOMESCO Finland

Rigid bronchoscopy

58.4

13.3

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.4

7.7

244

DQB10

NOMESCO Finland

Endoscopic excision of lesion of larynx

86.3

7.5

UGB02

NOMESCO Finland

Tracheoscopy

+∞

7.4

EN1BD

NOMESCO Finland

Very extensive CT examination of mouth and soft tissues of neck

74.5

6.5

WX408

NOMESCO Finland

General anesthesy, balanced

3.0

6.2

231

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3023601) Vancomycin resistant enterococcus [Presence] in Specimen by Organism specific culture

+∞

5.24

9.0

0.0

—

(3006315) Basophils [#/volume] in Blood

517

2.46

4.27

7.9

9.9

0.04

e9/l

0.61

403

(3023368) Bacteria identified in Blood by Culture

172

2.44

4.10

4.1

4.4

—

(3013115) Eosinophils [#/volume] in Blood

534

2.30

3.71

9.0

10.8

0.19

0.22

e9/l

0.74

436

(3001604) Monocytes [#/volume] in Blood

518

2.24

3.58

8.1

9.8

0.57

0.60

e9/l

0.50

403

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

570

2.31

3.56

10.5

12.6

3.87

3.63

e9/l

0.46

463

(3019198) Lymphocytes [#/volume] in Blood

528

2.15

3.27

8.2

9.8

2.23

2.51

e9/l

1.04

431

(4062490)

5.67

3.25

1.1

1.5

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

124

2.33

3.08

3.9

6.5

483.16

1068.33

ng/l

1.78

107

(3007853) Bacteria identified in Skin by Aerobe culture

124

2.33

3.08

2.3

1.6

—

(3032080) INR in Blood by Coagulation assay

216

2.10

3.07

4.2

6.4

1.24

1.11

inr

—

(42870588) Differential panel, method unspecified - Blood

394

1.97

2.93

8.2

10.5

—

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

6.98

2.90

1.7

—

(3042936) Bacteria identified in Isolate by Culture

107

2.33

2.82

1.8

—

(40768804) Tissue Pathology biopsy report

224

2.00

2.74

2.0

1.8

—

(3022313) Gas panel - Capillary blood

192

2.05

2.72

11.1

11.2

—

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

3.35

2.72

1.6

—

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

3.35

2.72

1.6

—

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

172

2.04

2.56

2.6

3.5

80.99

19.95

ng/l

0.44

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

5.22

2.43

1.3

1.1

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

3.67

2.32

1.3

—

(3000991) Gas panel - Venous blood

186

1.94

2.32

17.8

12.5

—

(3037522) Nuclear Ab [Titer] in Serum

2.22

2.28

1.4

1.6

264.00

528.89

titre

—

(3037467) Urinalysis macro (dipstick) panel - Urine

545

1.85

2.26

5.1

4.4

—

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

5.76

2.23

1.4

1.0

—

(3038515) Glucose [Moles/volume] in Venous blood

5.76

2.23

3.4

3.6

6.04

7.18

mmol/l

—

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

2.74

2.17

2.1

1.3

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

460

1.78

2.15

24.8

13.0

1.23

mmol/l

0.04

416

(3000494) Fungus identified in Specimen by Culture

2.25

2.15

1.8

1.4

—

(40761536) Microorganisms panel - Urine sediment

2.58

2.11

3.5

3.9

—

(3008037) Lactate [Moles/volume] in Venous blood

5.18

2.09

4.4

3.3

1.40

1.22

mmol/l

—

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

5.18

2.09

1.0

1.7

—

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

331

1.76

2.08

4.0

4.7

—

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

4.17

2.07

1.5

1.9

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

218

1.83

2.05

12.4

11.7

1.54

1.14

mmol/l

0.60

163

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

2.52

2.03

11.4

2.5

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

2.52

2.03

1.3

1.4

—

(3012544) pH of Venous blood

203

1.83

1.99

9.4

11.9

—

(44790048)

2.88

1.98

2.3

2.0

—

(44790047)

2.88

1.98

2.3

2.0

—

(44790049)

2.88

1.98

2.3

2.0

—

(44806118)

2.88

1.98

2.3

2.0

—

(3002032) Base excess in Venous blood by calculation

205

1.80

1.93

8.8

11.4

1.47

0.94

mmol/l

0.33

152

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

3.00

1.90

1.3

1.6

—

(3024928) Oxygen saturation in Venous blood

2.90

1.83

13.1

25.1

—

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

3.05

1.75

1.3

1.5

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.33

1.74

9.5

16.9

1.19

1.36

0.19

(4010399)

2.33

1.74

1.9

1.4

—

(3021589) Normoblasts [#/volume] in Blood

507

1.67

1.74

13.4

11.2

0.00

0.03

e9/l

0.51

363

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

3.98

1.73

2.6

2.1

—

(3044640) Blood type and Crossmatch panel - Blood

240

1.69

1.64

3.6

3.1

—

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

101

1.94

1.61

1.4

1.2

18.00

15.93

iu/ml

—

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

1.92

1.49

1.3

1.2

54.90

6.63

u/ml

—

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

327

1.59

1.49

5.4

4.4

—

(3002582) Erythrocytes [#/volume] in Urine

310

1.59

1.45

4.0

4.5

25.47

18.71

e6/l

0.28

222

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

2.83

1.45

1.3

1.5

—

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

178

1.69

1.45

5.4

4.1

0.00

estimate

0.00

(3019230) Fractional oxyhemoglobin in Venous blood

2.51

1.41

12.6

22.4

75.86

72.53

—

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

2.30

1.41

2.4

2.0

—

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

138

1.75

1.40

2.1

2.0

—

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

106

1.84

1.40

2.2

2.0

—

(36304419) Bacteria [Presence] in Urine

285

1.58

1.40

3.5

4.5

—

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

2.25

1.37

2.8

2.0

—

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

2.19

1.34

8.6

7.9

71.39

60.89

—

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

2.05

1.33

1.7

3.0

15.18

14.34

iu/l

—

(40758558) Short blood count panel - Blood

316

1.55

1.32

4.4

8.8

—

(40767503) Oxygen content in Capillary blood by calculation

2.86

1.30

2.0

3.2

16.72

18.23

—

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

2.48

1.26

1.5

1.7

—

(3021901) Oxygen saturation in Capillary blood

2.48

1.26

2.2

6.8

—

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

119

1.73

1.22

4.9

3.5

15.45

14.42

umol/l

0.28

110

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

111

1.75

1.21

2.3

2.0

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

2.57

1.16

1.0

1.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.57

1.16

1.2

1.1

—

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

2.42

1.14

1.4

1.8

—

(3018418) pH of Serum or Plasma

191

1.55

1.09

4.9

3.4

7.43

7.41

—

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

290

1.48

1.08

3.9

4.5

0.26

0.32

e6/l

0.16

201

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

201

1.53

1.06

18.4

10.2

1.30

1.39

mmol/l

0.59

192

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

184

1.55

1.05

1.5

1.6

102.58

92.03

pmol/l

—

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

193

1.54

1.04

3.8

3.2

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

2.07

1.02

1.3

1.5

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.99

0.0

2.0

—

0.44

—

(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum

0.00

0.99

0.0

1.2

—

87.00

—

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

249

1.47

0.99

3.8

5.6

29.42

33.84

u/l

0.87

239

(3009508) Creatinine [Moles/volume] in Urine

197

1.50

0.95

2.7

5.0

6.58

7.82

mmol/l

0.50

180

(3014007) Fractional oxyhemoglobin in Arterial blood

1.98

0.91

50.2

19.5

95.88

94.31

—

(40760892) CBC W Ordered Manual Differential panel - Blood

164

1.51

0.89

7.0

6.2

—

(3013512) EKG study

132

1.53

0.83

4.8

3.3

—

(3018095) Leukocytes [#/volume] in Urine

351

1.38

0.82

5.3

5.7

37.02

26.75

e6/l

0.15

233

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

0.00

0.80

0.0

6.0

—

2.51

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.80

0.0

1.2

—

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

2.23

0.77

2.6

1.8

—

(3011648) Oxygen content in Venous blood

2.23

0.77

12.6

27.4

12.76

11.40

—

(3035637) Corticotropin [Mass/volume] in Plasma

1.73

0.77

2.9

1.9

—

(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

1.69

0.76

1.4

1.8

—

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

2.13

0.75

1.6

1.7

—

(40761511) CBC panel - Blood by Automated count

870

1.59

0.75

16.9

9.7

—

(3000492) Spirometry study

1.69

0.75

1.4

1.5

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

1.97

0.71

1.2

1.5

—

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

1.76

0.71

51.0

18.1

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

103

1.53

0.69

2.4

4.6

0.18

0.20

g/l

0.58

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

1.82

0.67

1.2

1.4

—

(3023511) Choriogonadotropin [Units/volume] in Urine

1.70

0.62

1.6

1.4

—

(3022145) Colonoscopy Study observation

1.58

0.61

1.4

1.3

—

(3002385) Erythrocyte distribution width [Ratio]

834

1.43

0.61

24.4

17.8

13.49

13.40

0.30

826

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.60

0.0

1.4

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.59

0.0

5.0

—

(3003985) Beta hydroxybutyrate [Moles/volume] in Serum or Plasma

0.00

0.59

0.0

2.2

—

2.49

—

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

1.66

0.56

1.2

3.1

—

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

235

1.32

0.56

22.5

16.5

24.90

24.70

mmol/l

0.15

235

(3023520) Reticulocytes [#/volume] in Blood

1.47

0.53

2.5

5.9

91.90

66.38

e9/l

—

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

520

1.26

0.50

14.6

9.7

94.64

93.61

ml/min/173m2

0.09

388

(3003338) MCHC [Mass/volume]

854

1.37

0.47

21.2

18.2

334.21

335.08

g/l

0.34

848

(40768797) Stomach Pathology biopsy report

1.50

0.46

1.4

1.5

—

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

1.64

0.43

2.6

4.7

—

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

1.43

0.43

3.0

2.1

—

(3028707) Methadone [Presence] in Urine by Screen method

1.59

0.43

1.6

1.7

—

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

1.41

0.42

3.0

1.4

—

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

263

1.25

0.42

5.4

3.6

—

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

1.54

0.42

1.8

1.6

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.41

0.0

1.7

—

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

0.00

0.41

0.0

1.9

—

12.05

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.41

0.0

5.5

—

4.74

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.41

0.0

1.7

—

175.53

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.41

0.0

1.1

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.41

0.0

1.7

—

(3044355) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.41

0.0

1.2

—

1.57

—

(3012501) Base excess in Blood by calculation

0.00

0.41

0.0

5.5

—

2.09

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.41

0.0

5.5

—

9.25

—

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

0.00

0.41

0.0

1.0

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.41

0.0

1.7

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.41

0.0

1.7

—

(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing

0.00

0.41

0.0

1.1

—

(40761872) Peanut recombinant (rAra h) 2 IgE Ab [Units/volume] in Serum

0.00

0.40

0.0

1.3

—

1.52

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.39

0.0

1.6

—

(3044889) 12 lead EKG panel

431

1.21

0.38

3.7

2.9

—

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

118

1.31

0.35

3.5

1.5

—

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

1.42

0.35

1.2

1.4

—

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

183

1.25

0.35

3.3

2.2

—

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

317

1.20

0.34

1.5

1.8

1.89

1.62

g/l

0.39

164

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

327

1.20

0.34

1.9

—

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

156

1.26

0.34

3.3

5.0

2.45

1.64

mg/l

0.27

125

(40761535) Cells panel - Urine sediment

1.32

0.33

5.3

4.3

—

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

163

0.77

0.32

3.0

2.7

—

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

1.37

0.32

10.0

5.9

—

(3003396) Base excess in Arterial blood by calculation

1.37

0.31

41.4

13.0

0.53

1.05

mmol/l

—

(1761868) Lipid panel - Serum or Plasma

194

0.79

0.31

3.0

2.5

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

867

1.26

0.29

22.0

13.0

27.32

23.58

mg/l

0.41

612

(3019832) Treponema pallidum Ab [Presence] in Serum

104

1.28

0.28

2.0

1.7

—

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

258

1.17

0.24

1.6

—

(3025941) Bacteria identified in Stool by Culture

1.37

0.24

1.6

1.3

—

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

144

1.21

0.23

3.2

1.6

—

(3002256) Pathology report gross observation

1.28

0.23

1.3

1.2

—

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

202

1.18

0.22

2.7

4.2

1.22

0.50

e6/l

—

117

(3011288) Drugs identified in Urine by Screen method

1.23

0.22

1.8

—

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

1.25

0.22

1.0

1.1

—

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

155

0.82

0.22

2.5

—

(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

(3010015) Selenium [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

2.3

—

1.11

—

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

0.00

0.21

0.0

4.9

—

(4094501)

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

2.0

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.21

0.0

1.4

—

85.70

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

7.1

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

0.21

0.0

1.2

—

89.30

—

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

0.00

0.21

0.0

4.9

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.7

—

(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.8

—

94.27

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.7

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.21

0.0

1.2

—

(4306422)

0.00

0.21

0.0

1.2

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

73.50

—

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

0.00

0.21

0.0

1.3

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

3.2

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.21

0.0

1.2

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

1.19

0.20

3.2

2.1

—

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

1.19

0.20

1.5

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

1.16

0.19

3.5

2.0

—

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

1.22

0.18

1.1

1.3

—

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

110

1.21

0.18

6.6

3.5

2.51

2.56

g/l

0.11

103

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

1.15

0.17

1.1

—

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

393

1.11

0.16

5.7

4.0

0.00

estimate

0.00

(3041096) Erythrocytes [Presence] in Urine by Automated

188

1.14

0.16

4.3

3.0

—

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

384

1.11

0.16

5.7

3.9

0.00

estimate

0.00

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

757

1.11

0.14

3.9

3.7

—

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

220

1.12

0.13

5.1

4.2

—

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

390

1.08

0.10

7.8

5.8

0.00

estimate

0.00

(3027901) Hemoglobin [Mass/volume] in Arterial cord blood

1.14

0.10

1.0

173.00

165.32

g/l

—

(3044290) Cell count panel - Cerebral spinal fluid

1.12

0.10

1.6

4.9

—

(3019225) pH of Specimen

1.09

0.10

26.8

3.8

—

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

1.14

0.09

1.8

1.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

875

1.11

0.08

23.9

17.5

38.37

38.86

0.24

765

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

1.10

0.08

4.7

8.9

150.71

170.59

—

(3000764) Benzodiazepines [Presence] in Urine

1.08

0.08

1.6

1.4

—

(3027944) Amphetamines [Presence] in Urine

1.06

0.08

1.6

1.4

—

(3027008) Opiates [Presence] in Urine

1.06

0.08

1.6

1.4

—

(3028300) Cannabinoids [Presence] in Urine

1.05

0.08

1.6

1.4

—

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

0.80

0.08

3.7

1.8

—

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

1.04

0.07

3.0

2.0

—

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

197

1.08

0.06

3.3

4.4

3.00

1.48

e6/l

—

114

(3026008) Bacteria identified in Urine by Culture

212

1.05

0.02

3.1

3.0

—

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

1.08

0.02

1.0

1.1

—

(3015736) pH of Urine

306

0.97

0.01

4.7

3.9

—

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

327

1.01

0.00

1.4

1.7

1.60

1.68

u/ml

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

467

1.01

0.00

3.9

4.7

42.26

36.56

u/l

0.41

447

(36660697) Celiac disease serology panel - Serum

148

1.01

0.00

1.1

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

221

0.99

0.00

2.0

—

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

0.00

0.0

2.0

—

(3033882) Carnitine [Moles/volume] in Serum or Plasma

0.00

0.0

2.6

—

31.25

—

(4035726)

1.00

0.00

1.8

1.6

—

(42869858) Acute and chronic leukemia fusion transcript panel - Blood or Tissue by Molecular genetics method

0.00

0.0

1.3

—

(3014373) Corynebacterium diphtheriae Ab [Units/volume] in Serum

0.00

0.0

2.1

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

4.5

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.0

—

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

0.99

0.00

3.3

1.9

—

(3000722) Carnitine free (C0) [Moles/volume] in Serum or Plasma

0.00

0.0

2.6

—

23.00

—

(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum

0.00

0.0

2.0

—

(42870560) Thyrotropin [Units/volume] in Cord blood

0.98

0.00

1.0

12.86

8.52

mu/l

—

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

0.00

0.0

1.2

—

(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(3021706) Oxygen [Partial pressure] in Arterial cord blood

1.01

0.00

1.0

2.84

3.21

kpa

—

(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

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

0.00

0.0

3.0

—

(3008860) Bordetella pertussis IgM Ab [Presence] in Serum

0.00

0.0

1.2

—

(3045683) HLA typing for celiac disease panel - Blood or Tissue

0.00

0.0

1.0

—

(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

0.0

2.2

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

2.0

—

3.07

—

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

0.00

0.0

12.1

—

609.44

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

0.0

1.3

—

13.57

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.8

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.1

—

(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma

0.94

0.00

2.6

—

10343.67

u/l

—

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

1.01

0.00

6.4

9.5

82.00

90.62

—

(3016031) Almond IgE Ab [Units/volume] in Serum

0.00

0.0

1.2

—

2.41

—

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

0.00

0.0

1.1

—

(3035400) Alkaline phosphatase.liver [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.0

—

49.80

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3049714) Procollagen type I.N-terminal propeptide [Mass/volume] in Serum

0.00

0.0

5.2

—

314.00

—

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

0.00

0.0

11.2

—

8.62

—

(3019977) pH of Arterial blood

0.00

0.0

1.4

—

(3019083) Insulin-like growth factor [Moles/volume] in Serum or Plasma

0.00

0.0

2.0

—

(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative

0.00

0.0

1.3

—

(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

(3016273) Islet cell 512 Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3020047) Haemophilus influenzae B Ab [Mass/volume] in Serum

0.00

0.0

1.8

—

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

0.00

0.0

1.8

—

0.77

—

(3009410) PHENobarbital [Moles/volume] in Serum or Plasma

0.00

0.0

16.6

—

104.20

—

(3045684) Alkaline phosphatase.other fractions [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.0

—

19.40

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

1.0

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.2

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

0.00

0.0

1.2

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.0

1.1

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.6

—

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

0.00

0.0

4.1

—

88.11

—

(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(3009871) Measles virus Ab [Titer] in Serum

0.00

0.0

3.4

—

(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood

0.98

0.00

1.0

8.27

7.47

kpa

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

0.0

1.3

—

(4268621)

0.00

0.0

2.2

—

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

0.00

0.0

1.9

—

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

1.00

0.00

2.0

1.2

—

(3001467) Alkaline phosphatase.bone [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.0

—

209.83

—

(3028772) Osteocalcin [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

(3016879) Cocaine [Presence] in Urine

0.95

0.00

1.7

1.4

—

(3006598) pH of Arterial cord blood

0.98

0.00

1.0

—

(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_LARYNX and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_LARYNX.

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_LARYNX – Congenital malformations of larynx

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 larynx

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