Risteys · Q17_MASTOCYTOSIS

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 — Q82.2 Cause of death: ICD-10 — Q82.2 2 out of 7 registries used, show all original rules.	226
4. Check minimum number of events None	226
5. Include endpoints None	226
6. Filter based on genotype QC (FinnGen only)	193

	All	Female	Male
Number of individuals	193	116	77
Unadjusted period prevalence (%)	0.04	0.04	0.04
Median age at first event (years)	48.64	48.09	49.49

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
200: Matched controls
2000

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q82.2

ICD-10 Finland

Mastocytosis

+∞

289.5

200

C01CA24

ATC

epinephrine; parenteral

16.7

79.4

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

13.5

65.0

XW000

NOMESCO Finland

Bone marrow biopsy

24.0

62.4

TNE25

NOMESCO Finland

Drill biopsy of bone marrow, pelvis

132.1

40.5

D47.0

ICD-10 Finland

Histiocytic and mast cell tumours of uncertain and unknown behaviour

460.8

39.5

NK6QA

NOMESCO Finland

Measurement of bone density from two or more locations with X-ray

9.8

39.4

9741/3-C42.1

ICD-O-3

Malignant mastocytosis of bone marrow

+∞

29.9

R06AE09

ATC

levocetirizine; oral

5.1

22.5

156

A02BA02

ATC

ranitidine; systemic

4.7

21.8

195

C96.2

ICD-10 Finland

Malignant mast cell tumour

+∞

21.2

R06AX27

ATC

desloratadine; oral

3.6

17.9

102

449

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

3.6

17.7

415

XQ800

NOMESCO Finland

Prick test

5.2

16.2

JN1AE

NOMESCO Finland

Ultrasound examination of upper part of abdomen

4.7

13.8

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.7

12.9

161

ZXD31

NOMESCO Finland

Major difficulties in performing procedure

8.1

10.0

E0000UV, ,

ATC

2.6

9.7

108

630

7573E

ICD-9 Finland

Congenital anomalies of the integument, Other specified anomalies of skin[URTICARIA PIGMENTOSA (MASTOCYTOSIS)]

+∞

9.4

L30.9

ICD-10 Finland

Dermatitis, unspecified

2.8

8.9

252

WXQ27

NOMESCO Finland

UVB narrow spectrum light therapy

23.1

8.1

R06AE07

ATC

cetirizine; oral

2.3

8.1

105

640

T78.2

ICD-10 Finland

Anaphylactic shock, unspecified

11.5

7.4

D07AC01

ATC

betamethasone; topical

2.2

6.7

471

M80.8

ICD-10 Finland

Other osteoporosis with pathological fracture

72.1

6.5

M81.9

ICD-10 Finland

Osteoporosis, unspecified

6.3

6.5

R03DC03

ATC

montelukast; oral

2.5

6.4

220

Q82.0

ICD-10 Finland

Hereditary lymphoedema

+∞

6.3

C421, 9741, 1

ICD-O-3

+∞

6.3

XQ848

NOMESCO Finland

Dermatological photography

7.1

6.2

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3045142) Bone marrow Pathology biopsy report

31.97

65.88

1.3

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

22.94

57.69

1.3

1.8

—

(40768443) Skin Pathology biopsy report

7.45

24.19

1.4

1.2

—

(3001604) Monocytes [#/volume] in Blood

161

934

4.71

18.81

10.9

6.6

0.52

0.57

e9/l

1.79

154

818

(3006315) Basophils [#/volume] in Blood

161

937

4.68

18.65

10.9

6.6

0.04

e9/l

0.63

154

818

(3019198) Lymphocytes [#/volume] in Blood

162

961

4.61

17.92

10.9

6.7

2.06

2.02

e9/l

0.14

155

866

(3013115) Eosinophils [#/volume] in Blood

163

974

4.64

17.77

11.2

7.1

0.22

0.19

e9/l

0.66

155

865

(42870588) Differential panel, method unspecified - Blood

122

603

3.62

17.75

9.9

6.5

—

(21494434) Karyotype in Bone marrow

20.77

16.47

1.3

1.2

—

(3002030) Lymphocytes/Leukocytes in Blood

150

890

3.74

15.49

11.9

6.6

32.07

29.36

2.41

150

861

(3023520) Reticulocytes [#/volume] in Blood

143

3.99

13.92

3.5

3.6

70.10

67.66

e9/l

0.20

100

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

162

1045

3.90

13.92

12.6

10.8

3.68

4.00

e9/l

1.36

154

911

(3018418) pH of Serum or Plasma

501

2.93

12.60

5.2

3.8

7.40

0.07

353

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

6.59

12.40

3.3

2.7

16.45

1.48

ratio

0.51

(3021589) Normoblasts [#/volume] in Blood

133

821

2.85

11.13

13.8

10.7

0.01

0.00

e9/l

0.31

120

661

(4035726) Immunohistochemistry procedure

154

3.48

11.07

1.6

1.4

—

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

127

770

2.78

10.93

7.6

8.5

1.22

mmol/l

0.18

121

717

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

134

854

2.72

10.13

9.4

8.8

1.23

1.22

mmol/l

0.88

123

751

(3004588) Protein electrophoresis panel - Serum or Plasma

3.91

9.95

2.8

2.3

—

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

16.60

9.17

2.4

3.7

55.71

102.96

ug/l

—

(3021440) Promyelocytes/Leukocytes in Blood

142

3.17

8.57

10.6

4.4

0.08

0.20

0.53

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

4.20

8.23

1.8

4.6

2.97

3.57

g/l

1.42

(3002179) Metamyelocytes/Leukocytes in Blood

146

3.08

8.16

10.9

4.2

0.54

0.62

0.08

(3025159) Blasts/Leukocytes in Blood

147

3.05

8.06

10.8

4.9

0.30

0.05

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

117

753

2.33

7.86

6.9

5.5

38.14

36.35

g/l

3.97

112

720

(3017181) Myelocytes/Leukocytes in Blood

155

2.88

7.31

10.8

4.3

0.58

0.91

0.32

(40758558) Short blood count panel - Blood

543

2.11

6.11

7.4

6.6

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

6.06

4.51

2.2

2.4

33.64

32.32

0.40

(40760892) CBC W Ordered Manual Differential panel - Blood

455

1.87

4.10

7.9

4.9

—

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

4.73

3.48

1.0

1.2

146.00

106.09

pmol/l

—

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

8.79

3.28

1.2

2.7

0.02

0.75

u/ml

—

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

161

2.10

3.22

2.4

3.2

0.22

0.23

g/l

0.47

153

(3037756) Immunofixation for Serum or Plasma

3.70

2.82

1.2

1.4

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

6.14

2.71

1.5

1.7

1.80

3.28

mg/l

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

195

1837

3.46

2.70

25.2

17.9

72.29

73.52

umol/l

0.22

195

1821

(3000991) Gas panel - Venous blood

158

1.98

2.65

7.1

12.7

—

(40765096) Chromosome analysis panel by Banding

5.58

2.56

1.0

1.4

—

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

598

1.56

2.39

3.3

3.4

2.37

2.36

mmol/l

0.45

549

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

2.78

2.24

1.3

2.0

—

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

5.66

2.22

1.2

1.0

128.40

154.96

mmol/24h

—

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

3.43

2.20

1.8

1.1

—

(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay

4.38

2.16

1.2

5.9

79.33

101.86

—

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

188

1745

2.29

2.12

20.4

14.5

14.48

22.04

mg/l

4.96

156

1413

(3012336) Haptoglobin [Mass/volume] in Serum or Plasma

2.27

2.10

1.5

2.5

1.12

1.56

g/l

1.42

(3035715) Granulocytes [#/volume] in Blood

2.99

2.10

5.8

4.2

3.09

4.40

e9/l

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

3.16

2.03

1.4

1.2

—

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

609

1.49

1.97

4.7

3.4

—

(3000093) Morphology [Interpretation] in Blood Narrative

3.83

1.95

1.8

1.4

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

3.26

1.89

1.4

1.5

—

nmol/l

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

2.93

1.88

1.3

1.0

—

(3010421) pH of Blood

2.64

1.82

3.1

2.9

7.41

—

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

177

1626

1.77

1.82

19.2

13.5

88.86

86.39

ml/min/173m2

0.95

165

1503

(3002032) Base excess in Venous blood by calculation

173

1.72

1.76

2.3

6.3

0.54

1.77

mmol/l

0.84

143

(3001122) Ferritin [Mass/volume] in Serum or Plasma

104

861

1.43

1.73

4.1

3.1

125.69

96.90

ug/l

0.74

813

(3018095) Leukocytes [#/volume] in Urine

670

1.44

1.71

4.8

3.9

36.92

75.93

e6/l

0.73

470

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

431

1.49

1.70

3.1

2.3

2.86

2.95

mg/l

0.12

373

(40768804) Tissue Pathology biopsy report

691

1.43

1.68

2.2

2.1

—

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

309

1.54

1.67

3.7

3.6

476.02

261.89

ng/l

0.25

223

(3028026) IgM [Mass/volume] in Serum or Plasma

121

1.82

1.66

2.1

1.7

1.94

1.33

g/l

0.36

110

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

488

1.46

1.64

3.8

3.1

0.16

0.31

e6/l

1.24

353

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

2.56

1.61

2.0

1.4

—

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

2.56

1.61

2.0

1.4

—

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

429

1.46

1.56

1.9

2.0

1.08

1.74

mg/l

0.56

348

(3035933) Granulocytes/Leukocytes in Blood

2.22

1.53

5.4

3.2

50.09

57.58

1.00

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

2.65

1.53

1.4

0.19

0.16

nmol/l

—

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

1.95

1.49

4.8

2.0

107.30

6550.95

u/l

—

(3028626) Oxygen [Partial pressure] in Capillary blood

1.99

1.48

5.3

9.2

9.06

8.79

kpa

0.25

(3013826) Glucose [Moles/volume] in Serum or Plasma

116

998

1.39

1.46

6.0

6.2

6.31

6.48

mmol/l

0.58

111

944

(4062490) Immunoglobulin typing, IgG

3.18

1.44

1.2

1.1

—

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

276

1.51

1.43

3.2

3.3

7.21

2.67

e6/l

0.34

133

(3023368) Bacteria identified in Blood by Culture

440

1.41

1.35

6.1

4.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

203

1.56

1.35

2.5

1.7

—

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

2.54

1.31

1.2

1.5

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

139

1.65

1.30

1.5

—

(3002582) Erythrocytes [#/volume] in Urine

584

1.36

1.26

3.7

3.2

50.44

35.02

e6/l

0.23

444

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

519

1.37

1.26

2.0

2.2

356.38

316.61

u/l

0.06

495

(3012544) pH of Venous blood

182

1.56

1.24

2.3

6.2

7.37

7.39

0.61

112

(21494815) CD4 cells/Lymphocytes in Specimen

2.67

1.22

5.2

1.8

22.28

37.27

—

(21494755) Public health laboratory ask at order entry panel

221

0.56

1.21

1.3

1.4

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.78

1.19

1.7

4.8

0.55

0.66

0.70

(3037522) Nuclear Ab [Titer] in Serum

279

1.45

1.18

1.3

1.4

445.71

538.41

titre

—

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

698

1.32

1.13

2.1

2.0

96.43

98.87

pmol/l

0.19

351

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

835

1.31

1.11

3.5

2.9

—

estimate

—

(3044290) Cell count panel - Cerebral spinal fluid

1.99

1.10

1.0

2.1

—

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

1.99

1.10

1.1

1.2

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

2.42

1.09

17.4

3.6

—

(3044640) Blood type and Crossmatch panel - Blood

577

1.33

1.09

3.5

2.4

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

173

1628

1.46

1.04

6.4

5.3

1.98

1.90

mu/l

0.29

167

1513

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

132

1.57

1.01

9.1

13.4

24.04

24.78

mmol/l

0.68

132

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

2.04

1.01

4.4

1.6

—

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

463

1.32

0.97

1.5

1.4

2.06

2.18

g/l

0.25

279

(3022313) Gas panel - Capillary blood

101

1.63

0.97

4.9

8.0

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

169

1591

1.40

0.94

4.5

4.2

1.35

1.29

mmol/l

0.29

162

1484

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

107

948

1.28

0.94

3.6

3.5

0.00

estimate

-0.00

195

(3026008) Bacteria identified in Urine by Culture

484

1.31

0.94

4.5

2.8

—

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

178

0.60

0.88

14.4

6.4

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

2.03

0.87

3.7

2.8

6.12

7.78

pmol/l

—

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

451

1.30

0.87

2.8

3.3

1124.75

915.18

ng/l

0.16

374

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

1.79

0.85

2.1

1.8

—

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

306

1.34

0.84

3.1

2.9

0.68

0.91

e6/l

0.36

161

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

108

968

1.25

0.82

3.7

3.6

0.00

estimate

-0.00

186

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

192

1.41

0.80

1.5

1.8

—

(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

1.63

0.80

1.2

1.6

—

(3008898) HLA-B27 [Presence]

106

0.55

0.75

1.0

1.1

—

(3019230) Fractional oxyhemoglobin in Venous blood

1.87

0.74

2.1

6.2

78.11

63.63

—

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

1.58

0.71

1.6

1.2

—

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

197

1.37

0.70

1.5

1.8

—

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

1.67

0.70

1.1

1.3

—

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

145

1.42

0.69

2.6

3.3

—

(1616796) Gas panel - Central venous blood

1.87

0.69

8.2

3.9

—

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

154

1.41

0.68

1.1

1.6

—

(40767503) Oxygen content in Capillary blood by calculation

1.81

0.66

3.6

3.0

17.94

17.02

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

149

1402

1.25

0.65

5.3

4.3

14.60

14.62

pmol/l

0.04

142

1285

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

506

1.24

0.65

1.3

1.4

0.75

1.72

u/ml

1.69

138

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

338

1.27

0.63

1.6

1.7

—

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

0.00

0.60

0.0

16.4

—

958.20

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.60

0.0

2.3

—

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

0.00

0.60

0.0

17.7

—

1733.05

—

(40768797) Stomach Pathology biopsy report

257

1.29

0.60

1.2

—

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

1.56

0.60

3.9

1.7

—

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

1.56

0.60

4.8

1.8

—

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

0.00

0.59

0.0

1.1

—

(3000494) Fungus identified in Specimen by Culture

212

1.32

0.59

2.3

1.6

—

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

105

961

1.19

0.59

3.6

3.5

68.54

0.00

estimate

0.48

200

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

445

1.23

0.58

1.7

1.6

21.68

20.69

nmol/l

0.19

378

(3039443) Prostate specific Ag panel - Serum or Plasma

1.74

0.58

1.7

1.5

—

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

116

1.41

0.56

2.6

6.2

23.59

24.19

mmol/l

0.27

116

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

160

1.35

0.56

2.1

2.3

—

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

431

1.21

0.52

4.1

2.4

—

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

1.43

0.52

2.2

1.6

—

(40761535) Cells panel - Urine sediment

118

1.39

0.52

4.7

3.2

—

(3002256) Pathology report gross observation

217

1.28

0.51

1.4

1.2

—

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

257

1.24

0.47

1.3

1.6

—

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

267

1.24

0.46

2.6

1.9

—

(3022621) pH of Urine by Test strip

149

1.30

0.43

2.1

1.7

6.14

6.17

0.05

(3019309) Folate [Moles/volume] in Red Blood Cells

250

1.24

0.43

1.6

1.7

1132.75

1215.56

nmol/l

0.21

190

(3032080) INR in Blood by Coagulation assay

740

1.16

0.43

20.0

10.6

1.28

1.16

inr

1.19

616

(3027801) Oxygen [Partial pressure] in Arterial blood

186

1.27

0.42

9.5

12.8

12.14

12.56

kpa

0.22

180

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

186

1.27

0.42

9.6

12.8

5.01

5.13

kpa

0.34

180

(3034770) Mitochondria Ab [Titer] in Serum

1.42

0.42

1.1

1.4

—

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

0.00

0.41

0.0

3.4

—

1.60

—

(3019977) pH of Arterial blood

187

1.26

0.41

9.7

12.9

7.42

7.43

0.26

110

(3005570) Glucose [Moles/volume] in Urine

0.00

0.40

0.0

2.3

—

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

539

1.16

0.40

1.7

1.5

—

(3045414) Leukocytes [Presence] in Urine

152

1.28

0.38

2.1

1.8

0.00

0.08

estimate

—

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

1.40

0.38

1.0

5.17

8.44

mu/l

—

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

179

0.77

0.37

1.6

1.8

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

144

1.27

0.37

2.1

2.6

0.34

0.15

e6/l

0.46

135

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

0.65

0.36

6.8

10.8

1.54

1.58

—

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

1.48

0.36

3.2

4.2

—

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

1.44

0.36

1.3

1.2

—

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

1.44

0.36

1.3

1.2

—

(3024928) Oxygen saturation in Venous blood

1.41

0.35

2.3

6.5

78.45

62.87

—

(3003338) MCHC [Entitic Mass/volume] in Red Blood Cells

159

1537

1.17

0.35

25.1

19.0

332.97

332.76

g/l

0.11

159

1531

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

333

1.17

0.34

1.2

1.4

4.67

6.35

u/ml

0.16

127

(3019060) Gas panel - Arterial blood

0.66

0.33

5.7

9.8

—

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

283

0.83

0.33

2.3

2.4

—

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

1.31

0.33

1.5

1.7

—

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

137

1.26

0.33

1.8

2.1

—

(3022145) Colonoscopy Study observation

221

1.20

0.32

1.2

1.4

—

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

1.28

0.32

2.2

1.2

—

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

1.28

0.32

1.5

1.7

—

(4094501) Cardiovascular stress test using bicycle ergometer

1.28

0.32

1.2

1.1

—

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

0.71

0.31

1.6

1.8

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

171

1667

1.18

0.31

4.9

1.38

1.47

mmol/l

1.77

164

1558

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

232

1.19

0.30

8.0

9.1

105.63

104.44

mmol/l

1.06

232

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

108

0.73

0.30

1.4

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

751

0.90

0.28

1.9

2.0

1.21

1.41

mmol/l

1.23

628

(3012516) Albumin [Mass/volume] in Urine

516

0.88

0.27

3.6

3.4

43.30

70.13

mg/l

0.32

335

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

276

0.85

0.26

1.6

—

(3020891) Body temperature

1.26

0.26

1.7

4.4

36.96

36.93

°c

—

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

265

0.85

0.26

2.0

2.3

—

(3000492) Spirometry study

189

1.18

0.25

1.3

1.4

—

(4024509) Urine culture

1.21

0.25

1.6

1.7

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

171

1673

1.15

0.25

5.3

5.1

4.59

4.70

mmol/l

0.74

165

1573

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

1.18

0.24

1.8

1.1

0.79

0.86

g/l

—

(40761511) CBC panel - Blood by Automated count

178

1809

0.85

0.23

16.1

12.7

—

(3041096) Erythrocytes [Presence] in Urine by Automated

549

1.11

0.23

3.1

2.9

0.00

0.01

estimate

0.50

159

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.74

0.23

2.3

1.7

1092.26

880.21

mu/l

—

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

220

1.16

0.22

1.8

2.1

3.31

3.37

ratio

0.10

182

(4198724) Urine methamphetamine measurement

0.00

0.21

0.0

2.7

—

(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.3

—

250.86

—

(3052649) Adenosine deaminase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.21

0.0

1.8

—

11.90

—

(3006653) Thiamine [Moles/volume] in Blood

0.00

0.21

0.0

1.8

—

118.20

—

(3034426) Prothrombin time (PT)

0.00

0.21

0.0

1.4

—

28.40

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.8

—

72.17

—

(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline

0.00

0.21

0.0

1.1

—

7.92

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

0.21

0.0

1.0

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

208

0.85

0.21

5.0

4.5

30.50

32.28

0.25

134

(1761868) Lipid panel - Serum or Plasma

729

1.09

0.21

2.7

3.1

—

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

1.26

0.21

3.3

1.4

—

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

415

1.11

0.20

1.8

2.1

—

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

0.00

0.20

0.0

1.1

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.20

0.0

3.4

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

0.20

0.0

3.3

—

11.41

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

0.20

0.0

1.0

—

(3011288) Drugs identified in Urine by Screen method Nominal

1.25

0.19

1.4

1.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

224

1.13

0.18

1.8

1.9

—

(3015736) pH of Urine

773

1.08

0.18

3.0

3.2

6.30

6.19

0.36

452

(1002224) Polysomnography panel

110

1.19

0.17

1.2

1.1

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

0.74

0.17

6.6

11.7

0.90

—

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

120

0.82

0.17

3.6

1.6

—

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

736

1.08

0.16

3.6

3.3

0.05

0.01

estimate

0.40

164

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.78

0.16

2.0

2.1

—

(3000330) Specific gravity of Urine by Test strip

1.22

0.15

2.8

3.0

1.02

ratio

—

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

1.16

0.15

1.3

1.6

—

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

324

1.10

0.15

1.4

1.7

408.44

41935940.92

pmol/l

0.50

279

(3020682) Albumin/Creatinine [Ratio] in Urine

527

0.93

0.13

4.1

4.0

7.36

44.30

mg/mmol

0.55

328

(3016879) Cocaine [Presence] in Urine

114

1.15

0.12

1.2

1.6

—

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

171

1689

1.09

0.11

5.5

5.6

2.75

2.77

mmol/l

0.10

166

1583

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

270

0.92

0.11

3.0

2.9

0.59

0.78

ug/l

1.03

156

(3013512) EKG study

538

1.06

0.10

3.3

3.2

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

1.09

0.09

1.6

4.2

13.42

25.02

mg/l

—

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

1.09

0.09

1.4

1.8

—

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

420

0.94

0.09

1.4

1.6

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

1.07

0.08

1.2

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

1.07

0.08

1.2

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

1.05

0.08

7.2

1.9

—

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

1.05

0.07

1.4

1.1

1.40

1.58

g/l

—

(36660697) Celiac disease serology panel - Serum

196

1.08

0.07

1.0

1.2

—

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

522

1.05

0.07

4.0

3.5

0.00

estimate

-0.00

190

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

0.85

0.07

1.3

1.4

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

165

1634

1.06

0.07

4.7

5.95

5.81

mmol/l

0.48

159

1522

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

315

0.94

0.07

2.0

1.6

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

131

0.91

0.06

1.5

1.2

—

(3027008) Opiates [Presence] in Urine

121

1.08

0.04

1.2

1.6

—

(3027944) Amphetamines [Presence] in Urine

121

1.08

0.04

1.2

1.6

—

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

121

1.08

0.04

1.1

1.0

—

(3028300) Cannabinoids [Presence] in Urine

121

1.08

0.04

1.2

1.6

—

(3042936) Bacteria identified in Isolate by Culture

260

1.04

0.03

1.7

2.3

—

(40761536) Microorganisms panel - Urine sediment

148

0.94

0.02

3.0

3.2

—

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

359

0.97

0.02

3.5

4.5

24.75

21.56

0.44

165

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

124

1248

0.98

0.01

3.0

3.3

—

(3019150) Specific gravity of Urine by Refractometry

436

0.98

0.00

3.8

3.5

1.02

kg/l

0.21

290

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

621

1.00

0.00

3.2

3.3

26.42

31.24

ng/l

0.23

403

(3025941) Bacteria identified in Stool by Culture

117

1.03

0.00

1.2

—

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

367

1.01

0.00

1.4

173.94

27.44

iu/ml

—

115

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

1.06

0.00

1.2

1.7

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

188

1.01

0.00

2.3

5.0

2.93

32.36

ug/l

0.67

149

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

0.92

0.00

1.8

1.5

—

(3013637) Mi-2 Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

28.71

—

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

0.00

0.0

1.0

—

(42528593) TIF1-gamma Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

(42529598) SUMO-activating enzyme subunit 1 Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

(42529582) MDA5 Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

(3023365) Varicella zoster virus Ab [Titer] in Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

-0.00

0.0

2.0

—

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

0.94

-0.00

1.3

—

(3013727) Leukocytes other/Leukocytes in Blood

0.00

-0.00

0.0

4.5

—

52.81

—

(42869547) Procollagen type III.N-terminal propeptide [Mass/volume] in Serum

0.00

-0.00

0.0

1.3

—

7.25

—

(3043525) Herpes simplex virus Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.4

—

(42529406) Shigella sp [Presence] in Stool by Culture

1.02

-0.00

1.2

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.4

—

(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture

0.00

-0.00

0.0

1.6

—

(3042733) HLA Ab [Presence] in Serum

0.00

-0.00

0.0

1.7

—

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

0.91

-0.00

4.4

1.3

—

(3018921) Toxoplasma gondii IgA Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(40768793) Breast Pathology biopsy report

0.84

-0.00

1.6

1.4

—

(3036428) Adenosine deaminase [Enzymatic activity/volume] in Pleural fluid

0.00

-0.00

0.0

1.4

—

13.13

—

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

0.00

-0.00

0.0

1.0

—

63.70

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.3

—

(4034850) Laboratory test

0.96

-0.00

2.6

11.5

—

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

0.00

-0.00

0.0

9.0

—

7.93

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.1

—

(3016845) Adenovirus Ag [Presence] in Specimen by Immunofluorescence

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

3.2

—

6.02

—

(3050898) Methicillin resistant Staphylococcus aureus [Presence] in Genital specimen by Organism specific culture

0.00

-0.00

0.0

1.8

—

(3041806) Other cells [#/volume] in Blood by Manual count

0.00

-0.00

0.0

1.2

—

0.53

—

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

0.00

-0.00

0.0

5.3

—

(42529528) Centromere protein B Ab [Units/volume] in Serum by Line blot

0.00

-0.00

0.0

1.4

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

43.07

—

(42868415) European tick borne encephalitis virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.4

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

1.02

-0.00

3.2

1.6

—

(42868499) Enterovirus IgG Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.0

—

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

0.91

-0.00

1.3

1.1

—

3.80

—

(3009876) Amylase isoenzyme 3 panel - Serum or Plasma

0.00

-0.00

0.0

1.2

—

(3000764) Benzodiazepines [Presence] in Urine

120

1.00

-0.00

1.2

1.6

—

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

0.87

-0.00

1.2

1.3

—

NAME	Q17_MASTOCYTOSIS
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q822
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q822
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

≡ Risteys

R14

FinnGen R13 + FinRegistry

FinnGen R12 + FinRegistry

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Mastocytosis

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Mastocytosis (Q17_MASTOCYTOSIS)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS

Matched cohort

LabWAS

Mortality – FinRegistry

Relationships between endpoints