Qualitative platelet defects

D3_QUALIPATELETDEF

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 — D69.1 Hospital discharge: ICD-9 — 2871 Hospital discharge: ICD-8 — 28730 Cause of death: ICD-10 — D69.1 Cause of death: ICD-9 — 2871 Cause of death: ICD-8 — 28730 2 out of 7 registries used, show all original rules.	153
4. Check minimum number of events None	153
5. Include endpoints None	153
6. Filter based on genotype QC (FinnGen only)	138

Control definitions (FinnGen only)

Control exclude: D3_COAGDEF_PURPUR_HAEMORRHAGIC

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D69
Name in latin: Defectus qualitativi thrombocytorum

NAME	D3_QUALIPATELETDEF
CONTROL_EXCLUDE	D3_COAGDEF_PURPUR_HAEMORRHAGIC
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D691
HD_ICD_9	2871
HD_ICD_8	28730
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D691
COD_ICD_9	2871
COD_ICD_8	28730
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 Qualitative platelet defects 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	867	530	331
Only index persons	724	456	268
Unadjusted period prevalence (%)
Whole population	0.01	0.02	0.01
Only index persons	0.01	0.02	0.01
Median age at first event (years)
Whole population	49.02	48.30	49.74
Only index persons	46.38	45.50	47.87

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	138	92	46
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	48.90	43.30	60.10

-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
141: Matched controls
1410

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D69.1

ICD-10 Finland

Qualitative platelet defects

+∞

187.7

135

D69.6

ICD-10 Finland

Thrombocytopenia, unspecified

133.3

38.0

D69.3

ICD-10 Finland

Idiopathic thrombocytopenic purpura

+∞

34.8

B02AA02

ATC

tranexamic acid; systemic

6.2

24.5

151

D68.9

ICD-10 Finland

Coagulation defect, unspecified

+∞

13.8

D69.9

ICD-10 Finland

Haemorrhagic condition, unspecified

77.0

12.8

D68.0

ICD-10 Finland

Von Willebrand disease

+∞

11.6

129

Kela drug reimbursment

Idiopathic thrombocytopaenia or granulocytopenia

+∞

11.6

XW000

NOMESCO Finland

Bone marrow biopsy

10.1

9.4

D75.2

ICD-10 Finland

Essential thrombocytosis

39.4

9.2

WW500

NOMESCO Finland

Blood transfusion

7.5

9.1

126

Kela drug reimbursment

Chronic coagulation defects

+∞

8.4

D61.9

ICD-10 Finland

Aplastic anaemia, unspecified

+∞

8.4

O99.1

ICD-10 Finland

Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium

+∞

8.4

Y83

ICD-10 Finland

Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

4.7

8.3

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

4.7

8.3

D47.3

ICD-10 Finland

Essential (haemorrhagic) thrombocythaemia

47.7

7.8

117

Kela drug reimbursment

Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue

7.0

7.5

D69.4

ICD-10 Finland

Other primary thrombocytopenia

+∞

7.3

D64.9

ICD-10 Finland

Anaemia, unspecified

3.8

7.0

T81.0

ICD-10 Finland

Haemorrhage and haematoma complicating a procedure, not elsewhere classified

4.3

7.0

TPH07

NOMESCO Finland

Cathetrisation of artery

3.6

7.0

TPH04

NOMESCO Finland

Cathetrisation of vein

2.8

6.8

191

R10.4

ICD-10 Finland

Other and unspecified abdominal pain

2.4

6.3

389

B02BX05

ATC

eltrombopag; oral

+∞

6.3

D69.0

ICD-10 Finland

Allergic purpura

+∞

6.3

28730

ICD-8 Finland

Purpura and other haemorrhagic conditions, Thrombocytopathy

+∞

6.3

JMA11

NOMESCO Finland

Laparoscopic total splenectomy

+∞

6.3

Z3231

NOMESCO Finland

Registered nurse

2.5

6.3

301

L04AD01

ATC

ciclosporin; systemic

13.3

6.2

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.0

6.1

115

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(43055222) Platelet function.collagen + Adenosine diphosphate induced and EPINEPHrine induced panel - Blood

+∞

29.17

2.1

0.0

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

120

5.91

21.21

5.7

4.1

241.44

235.79

u/l

0.09

113

(3036489) Thrombin time

7.82

20.79

6.1

3.5

21.09

20.49

0.48

(3023520) Reticulocytes [#/volume] in Blood

102

5.26

16.33

3.5

2.4

73.12

67.91

e9/l

0.37

(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay

40.87

14.84

1.6

1.0

112.39

154.80

—

(42870588) Differential panel, method unspecified - Blood

457

3.26

10.66

9.4

5.8

—

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

12.75

8.81

1.7

4.2

103.07

102.62

0.02

(3000093) Morphology [Interpretation] in Blood Narrative

10.96

7.73

1.3

1.1

—

(3002179) Metamyelocytes/Leukocytes in Blood

105

3.08

5.93

7.8

3.8

0.27

0.67

0.63

(3042111) Morphology [Interpretation] in Bone marrow Narrative

8.08

5.76

1.3

—

(3029847) von Willebrand factor (vWf).collagen binding activity actual/normal in Platelet poor plasma by Immunoassay

+∞

5.24

1.2

0.0

50.40

—

(3017181) Myelocytes/Leukocytes in Blood

113

2.84

5.19

7.8

3.9

0.83

0.96

0.11

(3021589) Normoblasts [#/volume] in Blood

606

2.27

5.16

21.8

10.9

0.03

0.00

e9/l

0.44

481

(3035715) Granulocytes [#/volume] in Blood

6.14

4.87

4.6

3.2

4.12

4.63

e9/l

0.28

(3035933) Granulocytes/Leukocytes in Blood

4.74

4.58

4.1

2.5

60.21

61.07

0.10

(3025159) Blasts/Leukocytes in Blood

105

2.68

4.28

9.8

4.3

0.13

0.28

—

(40758558) Short blood count panel - Blood

397

2.06

4.20

9.9

6.9

—

(3021440) Promyelocytes/Leukocytes in Blood

106

2.65

4.20

8.3

3.9

0.00

0.17

—

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

286

2.03

3.64

4.6

2.0

1.87

1.01

mg/l

0.56

226

(3045142) Bone marrow Pathology biopsy report

7.29

3.40

1.0

1.2

—

(3023368) Bacteria identified in Blood by Culture

319

1.88

3.03

6.0

4.2

—

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

111

2.28

2.93

10.5

9.0

24.38

25.33

mmol/l

0.97

111

(3029075) Extractable nuclear Ab panel - Serum

5.60

2.90

1.1

1.2

—

(3032773) Endomysium IgG Ab [Titer] in Serum

4.11

2.83

1.3

1.0

—

(3032080) INR in Blood by Coagulation assay

532

1.77

2.82

22.8

11.6

1.30

1.20

inr

0.87

433

(3018418) pH of Serum or Plasma

379

1.79

2.77

4.7

4.3

7.40

0.07

260

(1616796) Gas panel - Central venous blood

4.40

2.72

2.0

3.5

—

(4195642) Thrombophilia screening test

4.85

2.63

1.3

1.1

—

(3017044) Thyrotropin receptor Ab [Units/volume] in Serum

2.89

2.62

2.3

1.9

1.92

5.20

iu/l

—

(3027315) Oxygen [Partial pressure] in Blood

4.17

2.61

1.5

2.1

9.79

9.48

kpa

—

(3013290) Carbon dioxide [Partial pressure] in Blood

4.17

2.61

1.5

2.1

4.72

4.84

kpa

—

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

3.97

2.50

1.9

1.8

—

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

105

2.17

2.46

3.7

3.2

—

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

3.49

2.44

1.2

1.4

—

(4268621) Lupus anticoagulant assay

4.27

2.39

5.4

1.6

—

(3020779) Urea [Moles/volume] in Serum or Plasma

108

2.11

2.30

8.0

8.8

7.90

7.87

mmol/l

0.01

103

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.50

2.19

2.6

—

(3010421) pH of Blood

3.13

2.19

1.7

2.8

7.41

7.42

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

3.33

2.13

1.1

2.6

12.64

11.73

mg/l

—

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

3.03

2.11

1.1

1.2

—

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

3.03

2.11

1.1

1.2

—

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

5.14

2.09

1.4

117.60

111.60

pmol/l

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

128

1.95

2.05

3.0

2.5

401.30

385.17

nmol/l

0.21

120

(40768797) Stomach Pathology biopsy report

161

1.84

1.96

1.3

—

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

138

1.89

1.95

3.1

1.6

—

(40760892) CBC W Ordered Manual Differential panel - Blood

314

1.64

1.89

10.8

5.1

—

(3002032) Base excess in Venous blood by calculation

156

1.82

1.85

2.9

4.5

2.09

1.68

mmol/l

0.25

128

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

4.28

1.84

2.6

1.1

29.80

32.92

—

(3027831) CD3-CD16+CD56+ (Natural killer) cells/cells in Blood

4.28

1.84

2.2

2.3

18.60

10.25

—

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

3.15

1.82

1.7

1.3

—

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

143

1.82

1.75

2.8

1.5

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

3.94

1.73

1.2

1.1

—

(3042936) Bacteria identified in Isolate by Culture

186

1.70

1.66

1.8

1.9

—

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

3.66

1.63

2.2

2.5

—

(3012544) pH of Venous blood

163

1.73

1.61

3.0

4.4

7.38

0.05

108

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

2.78

1.60

1.1

1.4

—

(3037522) Nuclear Ab [Titer] in Serum

188

1.68

1.59

1.8

1.5

366.67

487.00

titre

—

(3048689) Calprotectin [Mass/mass] in Stool

188

1.68

1.59

2.3

2.4

127.37

98.34

ug/g

0.21

144

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

0.00

1.55

0.0

1.9

—

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

0.00

1.55

0.0

2.0

—

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

3.41

1.53

1.4

1.3

—

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

3.41

1.53

1.4

1.3

—

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

3.41

1.53

1.4

1.3

—

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

192

1.64

1.47

2.8

1.7

—

(4062490) Immunoglobulin typing, IgG

3.20

1.45

1.0

1.1

—

(21494815) CD4 cells/Lymphocytes in Specimen

3.20

1.45

2.6

1.9

37.34

40.82

—

(3044640) Blood type and Crossmatch panel - Blood

424

1.49

1.44

3.2

2.4

—

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

1.90

1.44

1.2

1.6

—

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

3.01

1.37

1.4

1.3

—

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

3.01

1.37

1.4

1.3

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

3.01

1.37

1.4

1.2

—

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

640

1.45

1.35

9.8

7.3

1.21

mmol/l

0.27

568

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

2.17

1.31

1.2

1.4

—

(3035637) Corticotropin [Mass/volume] in Plasma

2.84

1.29

1.0

1.8

32.74

36.67

ng/l

—

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

2.84

1.29

1.4

—

(3044941) Cell count panel - Synovial fluid

2.84

1.29

1.2

1.4

—

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

575

1.43

1.29

9.3

7.1

1.21

1.22

mmol/l

0.26

541

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

595

1.43

1.28

3.8

2.7

—

estimate

—

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

2.29

1.26

2.8

2.3

—

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

415

1.44

1.26

5.4

3.1

28.10

28.01

u/l

0.01

393

(3038177) Helicobacter pylori Ab [Presence] in Serum

2.46

1.25

2.2

1.2

—

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

2.69

1.22

1.4

1.1

—

(3019977) pH of Arterial blood

136

1.64

1.17

13.6

6.8

7.43

7.42

0.28

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

2.40

1.14

1.6

1.8

—

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

2.40

1.14

1.1

1.2

—

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

312

1.44

1.12

3.2

2.2

—

(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

1.94

1.11

2.3

1.4

—

(3037756) Immunofixation for Serum or Plasma

2.43

1.10

1.2

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

1.99

1.09

1.9

9.8

1.10

1.33

mg/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

148

1.58

1.06

2.4

1.7

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

2.11

1.04

1.1

—

1.47

—

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

2.11

1.04

1.0

1.1

—

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

2.11

1.04

1.0

1.1

—

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

344

1.41

1.03

2.0

1.5

1.96

2.19

g/l

0.61

202

(40761536) Microorganisms panel - Urine sediment

100

1.68

1.02

6.9

3.6

—

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

364

1.39

1.00

4.3

3.3

0.05

0.31

e6/l

3.24

262

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.99

0.0

1.1

—

(40768443) Skin Pathology biopsy report

1.85

0.99

1.1

1.3

—

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

1.99

0.98

2.0

1.4

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.78

0.96

1.5

2.7

—

(3000991) Gas panel - Venous blood

135

1.56

0.95

12.8

7.9

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

2.27

0.94

1.8

1.6

39.75

57.27

ug/l

—

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

222

1.45

0.94

9.3

3.4

132.37

287.18

ng/l

0.40

159

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

2.12

0.90

1.0

1.3

—

(3022145) Colonoscopy Study observation

147

1.50

0.86

1.3

1.4

—

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

262

1.39

0.86

2.1

2.0

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

1.98

0.85

2.0

1.8

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

107

1.56

0.80

1.9

1.3

97.00

92.83

u/ml

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.80

0.0

1.9

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

1.66

0.77

3.4

2.6

104.08

182.11

ng/l

0.67

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

1.74

0.77

1.3

—

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

2.12

0.75

2.6

3.0

5.32

8.41

pmol/l

—

(3019832) Treponema pallidum Ab [Presence] in Serum

152

1.45

0.74

1.4

1.7

—

(3019060) Gas panel - Arterial blood

1.67

0.74

2.9

4.1

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

2.04

0.73

1.0

1.6

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

2.04

0.73

1.4

1.7

—

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

1.96

0.71

2.2

1.6

—

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

440

1.29

0.70

5.0

3.6

—

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

1.70

0.69

1.1

1.3

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

1.70

0.69

1.9

2.1

5.61

3.11

mg/l

—

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

1.88

0.69

1.2

1.1

—

(3015736) pH of Urine

577

1.27

0.69

4.5

3.5

6.42

6.20

0.89

315

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

1.66

0.68

2.0

1.7

—

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

1.66

0.68

1.4

1.3

—

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

112

1.48

0.67

2.1

2.0

—

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

121

1.46

0.66

1.7

2.0

—

(3020630) Protein [Mass/volume] in Serum or Plasma

1.54

0.66

1.7

2.8

65.35

66.26

g/l

0.14

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

106

1126

0.76

0.64

5.3

4.8

5.85

5.86

mmol/l

0.03

101

1048

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

1.63

0.63

2.3

1.6

—

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

1.64

0.62

1.1

1.2

—

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

213

1.33

0.60

3.4

3.3

1.47

2.78

e6/l

0.81

109

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

259

1.30

0.60

1.3

1.4

18.05

29.11

iu/ml

0.90

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

391

1.26

0.59

1.5

—

(3000492) Spirometry study

133

1.41

0.58

1.2

1.5

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

1.75

0.58

1.2

1.1

7.21

4.01

u/ml

—

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

1.51

0.58

1.3

1.2

—

3.97

—

(3041096) Erythrocytes [Presence] in Urine by Automated

383

1.26

0.57

4.4

3.4

0.00

0.01

estimate

0.50

111

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

179

1.34

0.56

1.5

1.7

1271.11

1139.13

nmol/l

0.27

139

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

1.53

0.55

1.7

1.8

—

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

234

1.30

0.55

3.4

3.1

0.68

1.04

e6/l

0.84

129

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

501

1.23

0.54

2.1

1.9

1.37

1.30

mmol/l

0.29

426

(3002256) Pathology report gross observation

153

1.36

0.54

1.4

1.2

—

(3018095) Leukocytes [#/volume] in Urine

493

1.23

0.52

4.8

4.4

27.46

58.36

e6/l

0.90

342

(3002582) Erythrocytes [#/volume] in Urine

426

1.23

0.51

4.4

3.6

30.49

180.07

e6/l

0.48

321

(1002224) Polysomnography panel

1.53

0.51

1.2

1.1

—

(4035726) Immunohistochemistry procedure

110

0.62

0.50

2.3

1.5

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.49

0.49

2.9

3.0

0.53

0.64

0.73

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

389

1.23

0.49

3.9

3.2

—

0.17

—

(1761868) Lipid panel - Serum or Plasma

457

1.22

0.49

3.3

—

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

120

0.65

0.48

14.1

8.3

—

(3000330) Specific gravity of Urine by Test strip

1.46

0.47

5.9

3.4

1.02

ratio

0.97

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

500

1.20

0.44

2.2

2.0

86.56

96.86

pmol/l

1.49

244

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

1.48

0.44

1.6

1.4

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.62

0.44

1.2

1.3

—

27.58

—

(3021901) Oxygen saturation in Capillary blood

1.63

0.43

2.8

3.2

92.12

90.02

—

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

1.58

0.42

1.8

1.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.43

0.42

2.9

3.0

0.86

1.25

1.35

(3051014) Leukocytes [#/area] in Urine sediment by Automated count

0.00

0.41

0.0

1.9

—

3.20

—

(40768800) Prostate Pathology biopsy report

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.40

0.0

1.4

—

19.40

—

(3025941) Bacteria identified in Stool by Culture

1.41

0.40

1.3

—

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

1.44

0.39

2.4

1.3

—

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

1.44

0.39

2.4

1.5

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

1.44

0.39

1.2

1.1

0.16

0.23

u/ml

—

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

1.38

0.39

1.9

—

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

180

1.26

0.39

12.0

6.3

104.14

104.40

mmol/l

0.09

180

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

518

1.17

0.36

5.8

3.8

0.00

0.01

estimate

0.50

115

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

374

1.18

0.33

5.8

4.0

0.00

estimate

-0.00

123

(3013512) EKG study

382

0.86

0.29

3.3

3.8

—

(21494755) Public health laboratory ask at order entry panel

118

0.75

0.28

1.6

1.4

—

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

695

1.14

0.28

5.7

4.0

0.00

estimate

-0.00

141

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

235

1.18

0.28

1.2

1.4

1.54

9.63

u/ml

—

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

104

1.28

0.27

1.2

1.5

—

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

1.21

0.27

1.6

1.3

—

(3045414) Leukocytes [Presence] in Urine

123

1.25

0.26

2.6

2.1

0.00

estimate

—

(3020682) Albumin/Creatinine [Ratio] in Urine

378

0.87

0.26

4.6

3.9

3.46

9.48

mg/mmol

1.86

233

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

1.23

0.26

1.4

1.3

—

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

700

1.12

0.24

5.7

4.0

0.00

estimate

-0.00

145

(3023511) Choriogonadotropin [Units/volume] in Urine

1.36

0.24

1.8

1.3

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

1.36

0.24

1.2

1.1

1.36

0.31

u/ml

—

(3034770) Mitochondria Ab [Titer] in Serum

1.33

0.23

1.0

1.6

—

(3019225) pH of Specimen

0.74

0.23

3.1

4.7

7.38

7.33

—

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

1.29

0.23

6.2

4.4

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

1.29

0.23

1.2

3.94

1.51

u/ml

—

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

1.23

0.22

1.2

1.5

—

0.09

—

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

1.23

0.22

1.2

1.0

1.27

1.64

g/l

—

(40768804) Tissue Pathology biopsy report

504

1.12

0.21

2.3

2.0

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

122

1246

0.85

0.21

18.5

11.6

23.37

24.16

u/l

0.20

122

1220

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

1.20

0.21

1.2

1.1

0.83

0.90

g/l

—

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

0.00

0.21

0.0

1.1

—

(40768806) Pleura Pathology biopsy report

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.0

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.21

0.0

2.1

—

0.90

—

(3009306) Alpha-1-Fetoprotein [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

2.4

—

6.49

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

1183.17

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.2

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

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

706

1.10

0.19

5.7

4.1

0.00

estimate

-0.00

135

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

818

1.10

0.18

5.8

4.9

—

57.94

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

1.16

0.18

4.3

1.8

—

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

451

1.10

0.16

4.8

3.8

17.28

37.22

ng/l

1.52

302

(3000963) Hemoglobin [Mass/volume] in Blood

128

1299

0.84

0.16

48.6

23.4

130.85

133.59

g/l

1.46

128

1284

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

0.74

0.16

2.2

1.6

1231.05

949.76

mu/l

—

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

227

1.12

0.15

1.6

1.7

—

(3012516) Albumin [Mass/volume] in Urine

366

0.91

0.15

3.4

3.3

24.41

63.75

mg/l

1.80

239

(3010813) Leukocytes [#/volume] in Blood

128

1298

0.85

0.15

48.1

23.3

7.13

6.72

e9/l

1.27

128

1266

(3026361) Erythrocytes [#/volume] in Blood

128

1298

0.85

0.15

48.0

23.3

4.43

4.47

e12/l

0.28

128

1267

(3009542) Hematocrit [Volume Fraction] of Blood by calculation

128

1298

0.85

0.15

49.5

23.6

39.60

39.90

0.39

128

1282

(3035941) MCH [Entitic mass]

128

1298

0.85

0.15

47.9

23.2

29.97

30.12

0.24

128

1283

(36660697) Celiac disease serology panel - Serum

141

1.15

0.14

1.4

1.2

—

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

242

0.89

0.14

3.7

4.7

28.12

22.96

0.60

115

(3007461) Platelets [#/volume] in Blood

128

1297

0.86

0.13

48.2

23.3

243.03

254.89

e9/l

0.51

128

1271

(3024731) MCV [Entitic mean volume] in Red Blood Cells

128

1297

0.86

0.13

47.9

23.2

90.73

90.49

0.14

128

1282

(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma

1.18

0.13

3.8

2.7

6.36

4.82

ug/l

0.14

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

846

1.07

0.12

3.4

3.5

—

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

229

0.90

0.11

2.0

1.5

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

1.17

0.10

3.0

3.7

24.20

23.58

mmol/l

—

(40761511) CBC panel - Blood by Automated count

121

1226

0.91

0.10

26.9

13.0

—

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

1.09

0.09

1.6

1.3

—

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

1.04

0.09

1.6

1.2

—

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

1.04

0.09

1.6

1.2

—

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

358

0.93

0.09

4.0

3.4

1202.29

1048.84

ng/l

0.14

297

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

185

0.91

0.09

2.2

3.5

0.92

0.78

ug/l

0.36

123

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

113

0.88

0.08

3.4

3.0

0.97

0.94

e6/l

—

108

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

122

1205

1.09

0.08

28.1

15.2

19.56

22.53

mg/l

0.68

111

985

(3000494) Fungus identified in Specimen by Culture

156

1.10

0.08

1.9

1.4

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.15

0.08

1.7

1.3

—

(3022621) pH of Urine by Test strip

123

0.89

0.08

3.0

2.0

6.00

6.24

—

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

1.03

0.08

1.7

—

(3022313) Gas panel - Capillary blood

1.10

0.07

2.9

6.8

—

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

1.13

0.07

1.2

1.1

—

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

183

0.92

0.07

2.9

2.1

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

193

0.92

0.07

1.3

1.7

—

(3019150) Specific gravity of Urine by Refractometry

293

0.94

0.05

6.1

4.0

1.02

kg/l

0.27

187

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

297

1.06

0.05

1.8

—

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

167

0.95

0.01

2.7

1.9

—

(3026008) Bacteria identified in Urine by Culture

383

1.03

0.01

4.5

3.1

—

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

366

1.01

0.00

1.8

1.4

1.12

2.03

u/ml

0.60

104

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

107

1.03

0.00

2.4

1.5

—

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

157

1.02

0.00

1.4

1.6

—

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

1.02

0.00

1.6

1.2

—

(3028300) Cannabinoids [Presence] in Urine

0.89

0.00

1.8

1.2

—

(3027008) Opiates [Presence] in Urine

0.89

0.00

1.8

1.2

—

(3027944) Amphetamines [Presence] in Urine

0.87

0.00

1.6

1.2

—

(3020891) Body temperature

0.86

0.00

5.6

5.1

36.88

36.91

°c

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

(3044936) Clostridioides difficile toxin A+B [Presence] in Stool by Immunoassay

0.00

-0.00

0.0

1.4

—

(3015183) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells

0.00

-0.00

0.0

1.2

—

10.20

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.3

—

(3020911) Cortisol [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.4

—

53.43

—

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

0.00

-0.00

0.0

1.2

—

1.18

—

(3006462) Nitrate [Presence] in Urine

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

4.3

—

10.43

—

(3016879) Cocaine [Presence] in Urine

0.92

-0.00

1.8

1.2

—

(3020876) Protein [Mass/time] in 24 hour Urine

0.00

-0.00

0.0

5.3

—

1.41

—

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

0.00

-0.00

0.0

1.6

—

(37021247) Adenovirus 40+41 DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3024263) Appearance of Synovial fluid

0.00

-0.00

0.0

1.3

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3013727) Leukocytes other/Leukocytes in Blood

0.00

-0.00

0.0

1.6

—

65.36

—

(3043410) Blood group antigens tested for on Red Blood Cells

0.00

-0.00

0.0

1.4

—

(3016616) Dehydroepiandrosterone sulfate (DHEA-S) [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

4.81

—

(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.4

—

79.94

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

3.42

—

(3028009) Chlamydia trachomatis IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

4.04

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

-0.00

0.0

1.7

—

(37020445) Astrovirus RNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3006598) pH of Arterial cord blood

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.2

—

182.20

—

(3000764) Benzodiazepines [Presence] in Urine

0.91

-0.00

1.8

1.2

—

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

0.00

-0.00

0.0

1.2

—

15.50

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

-0.00

0.0

2.0

—

1.32

—

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

0.00

-0.00

0.0

5.0

—

1.23

—

(3000034) Microalbumin [Mass/volume] in Urine

0.00

-0.00

0.0

5.3

—

38.87

—

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

0.00

-0.00

0.0

1.0

—

7.80

—

(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

1.17

—

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

0.00

-0.00

0.0

1.1

—

(4211845) Urine protein measurement

0.00

-0.00

0.0

1.9

—

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

0.00

-0.00

0.0

1.1

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

166.80

—

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

0.00

-0.00

0.0

1.0

—

1354.67

—

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

0.00

-0.00

0.0

1.1

—

139.67

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

62.18

—

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

0.00

-0.00

0.0

1.0

—

7.50

—

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

0.00

-0.00

0.0

1.3

—

(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

4.3

—

4.61

—

(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_QUALIPATELETDEF and mortality.

Females

Parameter	HR [95% CI]	p-value
D3_QUALIPATELETDEF	2.075 [1.4, 3.07]	< 0.001
Birth year	0.995 [0.99, 1.0]	0.246

During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 401 females with D3_QUALIPATELETDEF died.

Males

Parameter	HR [95% CI]	p-value
D3_QUALIPATELETDEF	2.304 [1.61, 3.31]	< 0.001
Birth year	0.988 [0.98, 1.0]	0.01

During the follow-up period (1.1.1998 — 31.12.2019), 98 out of 278 males with D3_QUALIPATELETDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_QUALIPATELETDEF.

N-year risk	Females	Males
1	0.184%	0.492%
5	1.265%	2.769%
10	3.326%	6.831%
15	6.02%	12.131%
20	9.835%	20.27%

Relationships between endpoints

↥

Index endpoint: D3_QUALIPATELETDEF – Qualitative platelet defects

GWS hits: 1

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

Qualitative platelet defects

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