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	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	137
4. Check minimum number of events None	137
5. Include endpoints None	137
6. Filter based on genotype QC (FinnGen only)	134

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	134	89	45
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	48.98	43.31	60.21

-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
137: Matched controls
1370

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D69.1

ICD-10 Finland

Qualitative platelet defects

+∞

179.7

130

D69.6

ICD-10 Finland

Thrombocytopenia, unspecified

130.0

36.9

D69.3

ICD-10 Finland

Idiopathic thrombocytopenic purpura

+∞

34.9

B02AA02

ATC

tranexamic acid; systemic

6.3

24.1

144

D68.9

ICD-10 Finland

Coagulation defect, unspecified

+∞

12.7

129

Kela drug reimbursment

Idiopathic thrombocytopaenia or granulocytopenia

+∞

11.6

D68.0

ICD-10 Finland

Von Willebrand disease

+∞

10.5

D75.2

ICD-10 Finland

Essential thrombocytosis

59.3

9.8

D69.9

ICD-10 Finland

Haemorrhagic condition, unspecified

59.3

9.8

XW000

NOMESCO Finland

Bone marrow biopsy

10.2

9.4

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

D61.9

ICD-10 Finland

Aplastic anaemia, unspecified

+∞

8.4

126

Kela drug reimbursment

Chronic coagulation defects

+∞

8.4

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

4.6

7.8

D47.3

ICD-10 Finland

Essential (haemorrhagic) thrombocythaemia

47.8

7.8

117

Kela drug reimbursment

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

7.2

7.7

WW500

NOMESCO Finland

Blood transfusion

6.7

7.7

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

4.4

7.5

D69.4

ICD-10 Finland

Other primary thrombocytopenia

+∞

7.4

D64.9

ICD-10 Finland

Anaemia, unspecified

4.0

6.7

T81.0

ICD-10 Finland

Haemorrhage and haematoma complicating a procedure, not elsewhere classified

4.2

6.3

L01XX05

ATC

hydroxycarbamide; oral

28.1

6.3

Z3231

NOMESCO Finland

Registered nurse

2.5

6.3

294

JMA11

NOMESCO Finland

Laparoscopic total splenectomy

+∞

6.3

D69.0

ICD-10 Finland

Allergic purpura

+∞

6.3

B02BX05

ATC

eltrombopag; oral

+∞

6.3

28730

ICD-8 Finland

Purpura and other haemorrhagic conditions, Thrombocytopathy

+∞

6.3

TPH04

NOMESCO Finland

Cathetrisation of vein

2.7

6.2

179

L04AD01

ATC

ciclosporin; systemic

13.4

6.2

TPH07

NOMESCO Finland

Cathetrisation of artery

3.5

6.1

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

+∞

25.84

1.8

0.0

—

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

104

6.36

21.86

5.2

3.9

244.09

237.71

u/l

0.10

(3018677) aPTT in Platelet poor plasma by Coagulation assay

159

5.43

20.37

3.6

3.0

30.24

29.60

0.32

154

(3036489) Thrombin time

7.23

16.80

4.6

3.7

21.89

21.12

0.57

(3023520) Reticulocytes [#/volume] in Blood

5.46

15.71

3.2

2.2

74.40

66.27

e9/l

0.65

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

30.89

10.96

1.5

1.0

110.71

154.80

—

(40760892) CBC W Ordered Manual Differential panel - Blood

574

2.93

8.05

11.7

6.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

12.90

7.76

1.3

1.1

—

(3002179) Metamyelocytes/100 leukocytes in Blood

3.55

6.72

7.0

3.6

0.22

0.65

—

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

102

712

2.69

6.12

15.5

8.6

4.07

3.96

e9/l

0.22

617

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

9.85

5.91

1.5

4.5

102.36

100.58

0.06

(3017181) Myelocytes/100 leukocytes in Blood

3.18

5.86

6.7

3.6

0.91

0.99

0.06

(3025159) Blasts/100 leukocytes in Blood

3.29

5.81

6.8

3.7

0.14

0.29

—

(3021589) Normoblasts [#/volume] in Blood

535

2.40

5.79

17.4

8.9

0.03

0.01

e9/l

0.41

428

(3042111) Morphology [Interpretation] in Bone marrow Narrative

8.10

5.77

1.1

1.2

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

571

2.36

5.49

8.6

6.1

11.66

11.27

umol/l

0.14

538

(40758558) Short blood count panel - Blood

314

2.26

4.90

9.8

7.3

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.98

4.78

7.1

3.6

0.00

0.17

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

5.88

4.39

4.9

2.9

4.21

4.72

e9/l

0.27

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

5.88

4.39

4.9

2.9

59.45

59.35

0.01

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

252

2.10

3.74

3.3

2.0

2.11

0.95

mg/l

0.68

200

(3045142) Bone marrow Pathology biopsy report

7.30

3.40

1.0

1.1

—

(3023368) Bacteria identified in Blood by Culture

273

1.90

2.90

5.1

4.1

—

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

2.40

2.90

5.0

7.8

24.59

25.29

mmol/l

0.48

(3022217) INR in Platelet poor plasma by Coagulation assay

475

1.80

2.89

22.0

11.4

1.45

1.20

inr

1.07

139

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.77

2.61

2.4

2.5

—

(3018418) pH of Serum or Plasma

325

1.79

2.58

4.5

4.1

7.40

0.05

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

3.98

2.50

1.9

1.8

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

5.72

2.23

2.6

1.1

29.80

33.44

—

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

110

2.07

2.20

2.2

1.4

—

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

562

1.64

2.13

7.4

6.6

1.22

mmol/l

0.06

487

(3032773) Endomysium IgG Ab [Titer] in Serum

3.63

2.08

1.1

—

(3027315) Oxygen [Partial pressure] in Blood

3.63

2.08

1.6

2.1

9.47

9.48

kpa

—

(3013290) Carbon dioxide [Partial pressure] in Blood

3.63

2.08

1.6

2.2

4.71

4.84

kpa

—

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

114

1.99

2.01

2.5

1.5

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

100

2.04

1.97

2.2

2.8

32.68

29.07

u/l

0.33

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

3.87

1.95

5.3

1.7

—

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

3.30

1.90

1.3

1.4

—

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

3.30

1.90

1.7

1.3

—

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

3.30

1.90

1.1

2.5

12.59

11.32

mg/l

—

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

109

1.98

1.89

3.0

2.4

391.10

370.85

nmol/l

0.26

100

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

2.03

1.86

7.2

8.6

8.51

7.48

mmol/l

0.28

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

4.28

1.84

1.0

1.1

—

(3000012) Reticulocyte production index

4.28

1.84

3.4

1.2

—

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

2.86

1.82

1.1

1.2

—

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

2.86

1.82

1.1

1.2

—

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

3.44

1.76

1.0

1.3

—

(3002032) Base excess in Venous blood by calculation

129

1.84

1.69

2.5

4.7

2.29

1.70

mmol/l

0.37

101

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

161

1.76

1.68

2.3

1.6

—

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

526

1.54

1.68

2.8

2.5

—

(1616796) Gas panel - Central venous blood

3.25

1.68

2.3

3.2

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

3.66

1.63

1.4

1.1

—

(3037522) Nuclear Ab [Titer] in Serum

156

1.74

1.58

1.8

1.5

366.67

467.43

titre

—

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

355

1.54

1.56

5.2

3.1

28.40

28.82

u/l

0.05

334

(4034850) Laboratory test

0.00

1.55

0.0

12.2

—

(40760888) Immunoglobulin light chains.free panel - Serum

3.42

1.53

1.0

5.1

—

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

505

1.50

1.53

6.6

6.4

1.22

mmol/l

0.02

469

(3038177) Helicobacter pylori Ab [Presence] in Serum

2.94

1.52

2.0

1.1

—

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

1.90

1.51

3.9

3.1

—

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

2.49

1.41

1.1

—

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

1.97

1.40

1.2

1.5

—

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

0.00

1.36

0.0

1.9

—

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

0.00

1.36

0.0

1.8

—

(40768443) Skin Pathology biopsy report

2.22

1.36

1.1

1.2

—

(40768797) Stomach Pathology biopsy report

140

1.68

1.30

1.4

1.3

—

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

2.46

1.26

1.7

—

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

2.23

1.23

2.1

1.6

—

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

316

1.47

1.23

3.5

3.1

0.09

0.34

e6/l

1.92

235

(3044640) Blood type and Crossmatch panel - Blood

365

1.44

1.16

2.4

2.3

—

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

2.40

1.14

2.0

3.3

1.24

1.39

mmol/l

—

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

385

1.42

1.13

4.0

3.4

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

2.01

1.11

2.8

1.7

—

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

2.01

1.11

1.6

1.5

—

(3042936) Bacteria identified in Isolate by Culture

155

1.58

1.10

1.7

1.9

—

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

2.32

1.04

1.8

1.5

—

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

2.32

1.04

1.0

1.7

—

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

184

1.51

1.01

2.5

3.0

1.55

2.80

e6/l

0.69

104

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

568

1.35

0.95

6.2

5.2

0.00

estimate

-0.00

(3002582) Erythrocytes [#/volume] in Urine

340

1.39

0.94

3.4

34.14

216.71

e6/l

0.46

256

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

569

1.35

0.94

4.7

3.7

0.00

0.01

estimate

0.50

104

(3000330) Specific gravity of Urine by Test strip

1.81

0.93

5.5

3.7

—

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

2.19

0.92

1.0

1.1

—

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

2.19

0.92

1.0

1.1

—

(3019060) Gas panel - Arterial blood

1.78

0.89

2.9

4.2

—

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

270

1.40

0.88

2.3

2.1

—

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

573

1.33

0.88

4.7

3.8

0.00

estimate

-0.00

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

2.04

0.88

2.0

1.3

—

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

2.04

0.88

2.2

3.3

5.93

6.91

mmol/l

—

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

199

1.44

0.87

2.4

2.8

0.78

0.99

e6/l

0.26

118

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

113

1.58

0.87

1.7

2.0

—

(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

1.78

0.84

2.1

1.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

123

1.53

0.82

1.4

1.7

—

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

1.74

0.82

1.3

1.2

—

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

265

1.38

0.81

4.4

3.6

—

(36304419) Bacteria [Presence] in Urine

311

1.36

0.81

3.4

3.1

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.80

0.0

1.2

—

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

0.00

0.80

0.0

1.3

—

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

185

1.43

0.79

8.7

3.3

146.76

176.39

ng/l

0.08

128

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

1.60

0.79

1.6

1.9

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

1.75

0.78

1.8

3.8

27.14

24.39

mmol/l

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

1.70

0.77

1.9

3.4

128.36

132.72

g/l

0.31

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

1.70

0.77

1.3

1.8

—

(3015736) pH of Urine

474

1.31

0.77

4.0

3.5

6.30

5.92

—

(40761536) Microorganisms panel - Urine sediment

1.58

0.76

7.0

3.7

—

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

2.12

0.75

1.0

1.4

—

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

1.89

0.75

1.1

1.2

—

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

2.04

0.73

1.2

1.3

—

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

297

1.34

0.73

1.9

1.4

1.95

2.15

g/l

0.49

175

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

325

1.33

0.73

1.4

1.5

—

(40768804) Tissue Pathology biopsy report

459

1.29

0.71

2.1

2.0

—

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

1.96

0.71

1.2

8.58

4.15

u/ml

—

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

1.96

0.71

1.8

1.6

—

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

225

1.37

0.71

2.0

1.8

—

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

1.69

0.70

2.8

4.3

43.73

48.12

—

(3018095) Leukocytes [#/volume] in Urine

403

1.29

0.69

3.8

4.1

44.29

65.49

e6/l

0.31

283

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

137

1.45

0.69

5.6

104.74

104.09

mmol/l

0.20

137

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

1.88

0.69

4.6

1.9

—

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

434

1.28

0.66

5.2

3.9

—

(3002256) Pathology report gross observation

130

1.44

0.65

1.3

1.2

—

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

1049

0.77

0.65

4.6

4.3

5.88

5.85

mmol/l

0.08

971

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

397

1.28

0.64

2.1

1.8

86.28

97.07

pmol/l

1.22

186

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

1.67

0.63

9.6

6.0

—

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

1.60

0.61

1.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

314

1.29

0.61

4.4

3.5

—

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

400

1.27

0.60

4.1

3.6

16.19

38.95

ng/l

1.56

267

(3007853) Bacteria identified in Skin by Aerobe culture

133

1.41

0.58

2.4

1.6

—

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

1.75

0.58

1.5

1.6

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.51

0.58

2.0

3.2

0.50

0.71

—

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

1.70

0.57

1.5

1.3

—

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

1.65

0.56

1.0

1.2

—

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

290

1.28

0.55

5.7

4.0

0.00

estimate

-0.00

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

1.60

0.55

1.8

2.1

2.50

3.12

mg/l

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.48

0.54

1.3

2.5

—

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

210

1.29

0.50

1.4

1.3

15.97

31.06

iu/ml

1.22

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

1.58

0.50

1.1

1.2

—

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

119

0.65

0.48

14.0

8.3

—

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

1.42

0.48

1.9

1.3

94.00

101.63

iu/ml

—

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

175

1.31

0.47

1.5

1.7

1321.35

1155.97

nmol/l

0.35

134

(3000991) Gas panel - Venous blood

112

1.38

0.47

7.5

6.8

—

(3013512) EKG study

293

0.78

0.47

3.2

4.0

—

(1002224) Polysomnography panel

1.42

0.46

1.1

1.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

799

1.21

0.45

4.8

4.2

—

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

1.48

0.44

2.3

1.5

—

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

1.42

0.44

1.1

1.4

—

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

1.64

0.43

3.2

2.0

—

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

1.64

0.43

2.2

1.4

—

(3000492) Spirometry study

105

1.37

0.43

1.2

1.5

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.43

0.43

2.0

3.2

0.85

1.19

—

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

1.58

0.42

1.2

1.4

—

0.10

—

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

1.53

0.42

1.2

1.9

—

(3012568) Campylobacter 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

—

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

0.00

0.41

0.0

1.3

—

(40768800) Prostate Pathology biopsy report

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

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

19.70

—

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

0.00

0.41

0.0

1.8

—

3.62

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.41

0.0

1.9

—

(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum

0.00

0.41

0.0

1.1

—

0.08

—

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

0.00

0.41

0.0

1.3

—

(4035726) Immunohistochemistry procedure

104

0.66

0.41

2.0

1.5

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.41

0.0

1.5

—

(3023430) Cat dander IgE Ab [Units/volume] in Serum

0.00

0.41

0.0

1.1

—

7.20

—

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

1.44

0.40

3.3

2.5

122.00

184.86

ng/l

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.40

0.0

1.1

—

6.23

—

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

161

1.28

0.40

4.3

6.5

1.03

1.08

mmol/l

0.51

147

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

189

1.26

0.39

1.4

1.6

—

(21494755) Public health laboratory ask at order entry panel

113

0.69

0.39

1.6

1.4

—

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

1.40

0.38

6.0

4.6

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

1.31

0.37

1.6

1.4

—

(3025941) Bacteria identified in Stool by Culture

1.31

0.37

1.3

—

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

117

1128

1.26

0.36

23.1

13.2

18.74

22.45

mg/l

0.84

106

871

(1761868) Lipid panel - Serum or Plasma

386

1.17

0.31

2.8

2.9

—

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

1.30

0.27

3.6

2.7

6.36

4.98

ug/l

0.12

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

1.27

0.26

1.0

1.1

—

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

295

1.16

0.25

3.3

1084.38

1043.87

ng/l

0.04

246

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

1.18

0.25

1.3

2.7

67.10

66.06

g/l

—

(3000494) Fungus identified in Specimen by Culture

134

1.22

0.24

1.9

1.4

—

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

258

1.16

0.23

1.7

1.8

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.21

0.0

2.5

—

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

0.00

0.21

0.0

1.1

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.21

0.0

1.7

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.21

0.0

2.0

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.0

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.4

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.21

0.0

2.1

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.2

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.27

0.21

1.7

1.2

—

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

0.00

0.21

0.0

1.2

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.21

0.0

2.1

—

(3020682) Albumin/Creatinine [Ratio] in Urine

300

0.88

0.20

4.5

3.7

2.84

9.51

mg/mmol

1.95

181

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

0.00

0.20

0.0

1.1

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.20

0.0

1.1

—

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

1.18

0.19

1.3

1.8

—

(3022145) Colonoscopy Study observation

128

1.19

0.19

1.2

1.3

—

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

738

1.10

0.18

5.1

4.6

—

58.69

—

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

0.75

0.17

2.0

1.6

—

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

1.17

0.17

1.5

1.3

—

(3019225) pH of Specimen

0.80

0.15

3.0

4.8

—

(3026008) Bacteria identified in Urine by Culture

336

1.10

0.14

4.1

3.0

—

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

221

0.89

0.14

3.4

4.5

26.42

22.65

0.41

107

(3012516) Albumin [Mass/volume] in Urine

282

0.90

0.13

3.2

3.1

19.61

305.85

mg/l

0.65

174

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

133

1.14

0.12

1.3

1.6

—

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

231

1.10

0.11

3.4

2.9

3.46

8.55

e6/l

0.82

209

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

207

0.90

0.10

1.6

1.4

—

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

799

1.07

0.10

3.2

3.4

—

(3045414) Leukocytes [Presence] in Urine

1.12

0.10

4.6

1.7

—

(3020891) Body temperature

1.12

0.10

2.4

5.5

—

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

1.09

0.09

1.6

1.2

—

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

1.09

0.09

1.6

1.2

—

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

1.07

0.09

1.6

1.2

—

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

154

0.90

0.08

2.5

2.0

—

(36660697) Celiac disease serology panel - Serum

117

1.12

0.08

1.3

1.2

—

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

1.12

0.08

1.7

—

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

1.05

0.08

1.7

1.3

—

(3022313) Gas panel - Capillary blood

1.03

0.08

3.1

6.9

—

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

307

1.06

0.05

1.7

1.4

1.29

1.94

u/ml

—

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

199

1.07

0.05

1.3

1.4

1.62

10.78

u/ml

—

(3044889) 12 lead EKG panel

748

1.04

0.04

4.7

3.6

—

(3009542) Hematocrit [Volume Fraction] of Blood

124

1248

0.93

0.03

38.9

19.4

39.52

39.66

0.10

116

1180

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

118

1176

1.02

0.00

25.4

14.8

73.29

72.97

umol/l

0.04

118

1176

(40761511) CBC panel - Blood by Automated count

117

1174

0.98

0.00

24.3

11.7

—

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

101

1012

0.99

0.00

22.0

12.1

84.39

82.94

ml/min/173m2

0.26

805

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

101

1005

1.02

0.00

3.7

4.0

1.36

1.23

mmol/l

0.97

923

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

1.02

0.00

1.7

—

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

135

0.96

0.00

2.3

1.9

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

155

0.96

0.00

1.3

1.5

—

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

0.00

0.0

1.1

—

214.34

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

7.82

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(3006598) pH of Arterial cord blood

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

4.6

—

1.78

—

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

0.00

-0.00

0.0

1.6

—

57.60

—

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

0.00

-0.00

0.0

1.4

—

75.50

—

(3000034) Microalbumin [Mass/volume] in Urine

0.00

-0.00

0.0

5.3

—

38.87

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

5.0

—

1.23

—

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

0.00

-0.00

0.0

1.0

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

-0.00

0.0

1.6

—

1.28

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

6.60

—

(4200892) Spirometry reversibility

0.94

-0.00

2.5

1.5

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.1

—

248.29

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

4.0

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.2

—

(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

141.78

—

(40761535) Cells panel - Urine sediment

0.97

-0.00

8.9

3.2

—

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

0.00

-0.00

0.0

1.3

—

1.17

—

(3024263) Appearance of Synovial fluid

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

16.00

—

(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

4.2

—

(3036432) Mycobacterium tuberculosis genotype [Identifier] in Isolate

0.00

-0.00

0.0

7.2

—

(3022621) pH of Urine by Test strip

1.00

-0.00

3.4

2.2

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

-0.00

0.0

4.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

1.18

—

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

0.00

-0.00

0.0

3.3

—

(40760548) Muscle specific receptor tyrosine kinase Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(3004959) Base excess in Arterial cord blood by calculation

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

11.78

—

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

0.00

-0.00

0.0

4.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

166.80

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

-0.00

0.0

1.6

—

65.36

—

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

118

1180

1.00

-0.00

15.3

9.8

23.14

24.11

u/l

0.23

118

1147

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

0.00

-0.00

0.0

1.0

—

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