Reduction defects of lower limb

Q17_REDUCT_DEFECTS_LOWER_LIMB

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 — Q72 Cause of death: ICD-10 — Q72 2 out of 7 registries used, show all original rules.	100
4. Check minimum number of events None	100
5. Include endpoints None	100
6. Filter based on genotype QC (FinnGen only)	90

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q6[5-9]|Q7
Name in latin: Defectus reductionales membri inferioris

NAME	Q17_REDUCT_DEFECTS_LOWER_LIMB
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q72
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q72
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Reduction defects of lower limb 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	1123	543	577
Only index persons	1005	493	512
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.02
Only index persons	0.02	0.02	0.02
Median age at first event (years)
Whole population	13.45	13.58	13.09
Only index persons	13.87	14.04	13.71

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	90	52	38
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	22.36	27.72	15.02

-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
96: Matched controls
960

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q72.88

ICD-10 Finland

Other reduction defects of lower himb(s)

+∞

55.8

Q72.9

ICD-10 Finland

Reduction defect of lower limb, unspecified

+∞

25.1

M21.7

ICD-10 Finland

Unequal limb length (acquired)

135.6

11.7

Z3231

NOMESCO Finland

Registered nurse

3.5

8.0

156

N06AX21

ATC

duloxetine; oral

4.7

7.6

NFU20

NOMESCO Finland

Removal of internal fixation device from femur

24.5

6.8

Z3229

NOMESCO Finland

Other healthcare associate professional

6.0

6.4

Q72.4

ICD-10 Finland

Longitudinal reduction defect of femur

+∞

6.3

N02AX02

ATC

tramadol; systemic, rectal

3.0

6.2

199

Z3226

NOMESCO Finland

Physiotherapist

3.5

6.1

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3024354) Oxygen [Partial pressure] in Venous blood

4.07

5.31

7.3

5.0

4.38

4.92

kpa

0.83

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

164

2.31

3.37

1.8

2.3

1.31

1.27

mg/l

0.03

124

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

3.17

3.35

1.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.61

3.08

2.1

1.8

—

(3025159) Blasts/Leukocytes in Blood

2.65

2.92

6.5

6.2

0.00

0.41

—

(3045716) Anion gap in Serum or Plasma by calculation

7.02

2.91

1.3

2.0

9.17

9.89

mmol/l

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.32

2.67

2.5

3.8

—

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

167

2.06

2.49

1.6

—

(3001604) Monocytes [#/volume] in Blood

406

1.91

2.45

7.8

7.0

0.57

0.55

e9/l

0.42

360

(3006315) Basophils [#/volume] in Blood

407

1.90

2.42

7.9

7.1

0.04

e9/l

0.10

361

(3021589) Normoblasts [#/volume] in Blood

379

1.89

2.40

11.6

9.9

0.00

e9/l

0.39

311

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

3.70

2.33

2.5

3.3

46.79

54.89

—

(3035637) Corticotropin [Mass/volume] in Plasma

5.79

2.24

1.4

22.64

35.29

ng/l

—

(3037522) Nuclear Ab [Titer] in Serum

126

2.09

2.23

1.6

288.00

580.00

titre

—

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

251

1.85

2.15

1.7

1.9

—

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

2.24

2.11

13.7

7.3

105.18

104.81

mmol/l

0.13

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

4.73

1.96

1.6

2.0

1.34

1.11

mmol/l

—

(3000991) Gas panel - Venous blood

2.39

1.94

25.8

12.9

—

(3000494) Fungus identified in Specimen by Culture

2.20

1.93

1.6

1.3

—

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

3.02

1.91

2.0

1.9

—

(3032080) INR in Blood by Coagulation assay

296

1.74

1.87

4.3

8.4

1.02

1.11

inr

3.12

249

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

3.20

1.83

2.6

5.2

1.41

1.68

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

353

1.72

1.83

4.9

2.7

72.10

70.83

nmol/l

0.18

325

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

573

1.82

1.81

9.5

8.0

77.67

77.38

u/l

0.03

549

(3017181) Myelocytes/Leukocytes in Blood

2.19

1.81

5.9

5.3

1.86

0.93

—

(3002032) Base excess in Venous blood by calculation

2.31

1.81

12.7

5.7

1.75

2.04

mmol/l

0.11

(3002179) Metamyelocytes/Leukocytes in Blood

2.24

1.81

4.9

5.4

0.50

0.96

—

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

2.46

1.78

21.0

12.9

7.47

7.39

mmol/l

0.02

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.81

1.77

4.1

3.6

1.13

1.14

—

(3021440) Promyelocytes/Leukocytes in Blood

2.20

1.75

6.1

5.5

0.20

0.19

—

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

301

1.70

1.74

6.4

5.3

38.11

37.19

g/l

0.61

291

(3010421) pH of Blood

3.99

1.73

14.2

4.2

7.39

7.41

—

(42870588) Differential panel, method unspecified - Blood

248

1.72

1.71

8.2

7.1

—

(3023368) Bacteria identified in Blood by Culture

180

1.78

1.68

3.6

4.2

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

225

1.71

1.62

2.7

2.5

45.03

55.70

u/l

1.89

213

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

117

1.90

1.61

2.1

1.8

—

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

307

1.65

1.58

2.3

2.4

—

(3026008) Bacteria identified in Urine by Culture

218

1.70

1.57

5.0

2.9

—

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

2.98

1.53

1.3

1.6

—

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

2.98

1.53

1.3

1.6

—

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

378

1.61

1.46

3.8

2.8

—

estimate

—

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

2.32

1.41

37.7

8.0

26.11

24.90

mmol/l

—

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

0.00

1.36

0.0

1.6

—

53.65

—

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

432

1.57

1.34

8.6

5.0

6.26

6.19

mmol/l

0.11

401

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

133

1.74

1.31

6.5

3.6

21.30

141.07

ng/l

—

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

175

1.67

1.31

3.7

2.2

—

(3042936) Bacteria identified in Isolate by Culture

101

1.83

1.30

2.2

—

(3034770) Mitochondria Ab [Titer] in Serum

2.40

1.30

1.1

1.5

—

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

2.87

1.30

1.0

1.1

—

(1002224) Polysomnography panel

2.16

1.27

1.1

—

(3028626) Oxygen [Partial pressure] in Capillary blood

2.49

1.26

13.7

4.3

10.30

8.77

kpa

—

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

2.49

1.26

3.7

2.8

25.02

24.34

mmol/l

—

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

2.49

1.26

1.3

1.1

—

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

2.72

1.23

4.4

3.1

10.96

10.28

g/l

—

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

396

1.48

1.09

5.7

7.1

9.94

10.83

umol/l

0.54

384

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

2.14

1.05

1.3

5.0

86.29

97.18

—

(3044640) Blood type and Crossmatch panel - Blood

249

1.50

1.01

3.7

2.2

—

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

1.76

1.01

1.9

1.6

—

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

102

1.68

0.98

1.7

2.2

—

(3022313) Gas panel - Capillary blood

1.96

0.96

13.0

6.1

—

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

1.99

0.91

19.3

6.0

24.50

24.67

mmol/l

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.14

0.91

4.8

3.7

0.42

0.63

—

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

2.14

0.91

1.7

5.1

4.05

3.64

g/l

—

(1761868) Lipid panel - Serum or Plasma

351

0.68

0.90

2.0

2.6

—

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

2.06

0.88

1.7

—

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

812

1.76

0.88

21.9

13.0

21.74

22.29

mg/l

0.06

644

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.84

0.87

1.2

1.4

—

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

1.70

0.86

1.5

1.8

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

173

0.59

0.85

1.2

1.7

—

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

1.93

0.83

1.7

1.3

—

(3022145) Colonoscopy Study observation

1.68

0.83

1.7

1.5

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.87

0.80

2.0

2.1

—

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

2.24

0.77

4.4

2.7

4.36

4.30

g/l

—

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

2.24

0.77

4.4

2.7

3.82

3.40

g/l

—

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

2.24

0.77

4.4

2.7

7.54

7.33

g/l

—

(3009343) pH of Capillary blood

1.73

0.77

10.4

5.1

7.40

7.42

—

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

234

1.41

0.76

1.6

1.4

2.08

2.06

g/l

0.02

145

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

309

1.38

0.76

2.6

1.9

99.90

97.18

pmol/l

0.18

163

(3025941) Bacteria identified in Stool by Culture

1.64

0.73

1.2

—

(3018418) pH of Serum or Plasma

218

1.40

0.71

8.5

4.4

7.40

0.10

157

(3000492) Spirometry study

1.59

0.70

1.3

—

(3020891) Body temperature

1.90

0.69

1.8

5.1

37.00

36.90

°c

—

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

1.83

0.67

1.6

—

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

1.64

0.66

1.3

1.8

—

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

856

1.82

0.66

25.5

15.1

72.87

74.09

umol/l

0.17

843

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

221

1.38

0.66

1.8

2.4

—

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

1.76

0.64

32.4

7.5

1.52

1.40

mg/l

—

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

1.76

0.64

1.4

1.7

—

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

1.76

0.64

1.6

—

(3011288) Drugs identified in Urine by Screen method Nominal

1.63

0.61

1.6

1.8

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

1.55

0.60

1.4

1.7

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

1.58

0.55

2.4

—

19.62

—

(40761511) CBC panel - Blood by Automated count

851

1.63

0.52

16.4

11.1

—

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

1.60

0.50

1.3

1.9

—

(3000764) Benzodiazepines [Presence] in Urine

1.44

0.49

1.2

1.5

—

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

148

1.35

0.48

1.6

1.3

8.21

5.01

u/ml

—

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

279

1.28

0.48

1.8

—

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

121

1.39

0.48

3.9

2.8

12.07

14.71

umol/l

0.87

114

(3027008) Opiates [Presence] in Urine

1.43

0.46

1.2

1.5

—

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

242

1.28

0.46

1.8

2.6

—

(3026782) Osmolality of Urine

140

1.35

0.46

5.9

2.7

492.44

531.75

mosm/kgh2o

0.30

126

(3028300) Cannabinoids [Presence] in Urine

1.41

0.44

1.2

1.5

—

(3027944) Amphetamines [Presence] in Urine

1.41

0.44

1.2

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

1.47

0.44

1.4

1.8

—

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

1.65

0.43

1.2

1.4

—

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

1.59

0.43

1.2

1.3

—

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.41

0.0

1.1

—

1.08

—

(4195642) Thrombophilia screening test

0.00

0.41

0.0

1.3

—

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

1.34

0.41

1.4

1.7

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.34

0.41

1.3

1.2

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.40

0.0

2.6

—

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

115

0.67

0.40

2.8

2.5

—

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

135

0.71

0.39

2.6

—

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

1.34

0.38

1.0

—

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

1.31

0.38

1.2

1.6

—

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

259

1.23

0.36

1.4

0.98

1.12

u/ml

0.12

(3016879) Cocaine [Presence] in Urine

1.36

0.36

1.2

1.5

—

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

101

1.33

0.34

1.5

1.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

204

1.24

0.33

1.9

2.1

—

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

1.37

0.31

1.2

1.6

—

(40758558) Short blood count panel - Blood

245

1.20

0.29

5.9

6.2

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

789

1.27

0.29

27.0

13.9

139.41

139.68

mmol/l

0.53

768

(3013512) EKG study

198

1.21

0.28

3.2

3.1

—

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

1.32

0.27

2.3

0.68

0.87

ug/l

—

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

729

1.20

0.25

23.9

17.1

332.34

334.28

g/l

1.03

729

(40768797) Stomach Pathology biopsy report

1.27

0.24

1.9

1.2

—

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

1.33

0.23

1.6

1.4

—

(21494755) Public health laboratory ask at order entry panel

124

0.78

0.23

1.0

1.4

—

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

1.30

0.23

1.0

1.1

1.30

1.49

g/l

—

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

1.26

0.23

1.0

1.1

0.88

g/l

—

(3024666) Lithium [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

12.9

—

0.59

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.21

0.0

1.0

—

(3027945) Reticulocytes/Erythrocytes in Blood

1.28

0.21

3.6

4.0

1.94

1.82

—

(3005082) Progesterone [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

29.55

—

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

0.00

0.21

0.0

20.1

—

1431.25

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.5

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.21

0.0

3.5

—

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

744

1.18

0.20

3.8

3.6

1.38

1.25

mmol/l

0.62

697

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

441

1.13

0.19

5.5

3.8

0.00

estimate

-0.00

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

673

1.15

0.19

3.6

3.8

—

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

434

1.12

0.16

5.5

3.8

0.00

estimate

-0.00

(3020682) Albumin/Creatinine [Ratio] in Urine

208

1.14

0.16

5.0

4.0

6.65

10.50

mg/mmol

0.28

137

(3012516) Albumin [Mass/volume] in Urine

208

1.14

0.16

4.7

3.4

35.70

69.27

mg/l

0.65

137

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

445

1.11

0.15

5.6

3.8

0.00

estimate

-0.00

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

1.11

0.15

5.6

6.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

258

1.12

0.14

6.4

2.9

0.00

estimate

-0.00

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

132

1.16

0.14

1.9

2.0

2.40

2.43

mmol/l

—

115

(36304419) Bacteria [Presence] in Urine

209

0.89

0.13

8.3

3.1

—

estimate

—

(3015736) pH of Urine

351

0.91

0.12

4.5

3.4

6.64

6.20

1.84

193

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

252

1.10

0.11

4.5

3.2

17.05

27.49

ng/l

0.64

146

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

1.09

0.10

1.6

1.4

—

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

765

1.10

0.09

16.7

11.7

97.16

93.59

ml/min/173m2

0.69

694

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

1.10

0.09

1.3

1.6

—

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

336

0.93

0.08

6.1

3.4

0.00

0.01

estimate

0.49

(3016502) Oxygen saturation in Arterial blood

0.83

0.08

29.7

10.2

97.55

96.58

—

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

163

0.91

0.07

1.3

1.5

—

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

118

1.12

0.07

4.7

2.8

2.93

2.44

e6/l

—

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

526

1.06

0.06

7.2

4.7

—

31.64

—

(40768804) Tissue Pathology biopsy report

293

0.94

0.06

2.4

1.8

—

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

130

0.91

0.05

4.8

2.8

0.04

0.76

e6/l

—

(3002582) Erythrocytes [#/volume] in Urine

251

0.94

0.04

7.0

3.2

21.06

42.65

e6/l

0.42

201

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

869

0.90

0.04

14.4

10.4

28.93

27.64

u/l

0.20

848

(3018095) Leukocytes [#/volume] in Urine

290

1.05

0.03

7.2

4.1

22.84

25.56

e6/l

0.07

204

(40760892) CBC W Ordered Manual Differential panel - Blood

201

1.06

0.03

8.7

5.1

—

(36660697) Celiac disease serology panel - Serum

102

1.09

0.03

1.5

1.2

—

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

113

1.07

0.02

4.0

3.3

18.42

22.68

—

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

276

0.97

0.00

1.7

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

132

0.98

0.00

18.5

3.6

0.77

0.81

mmol/l

0.81

124

(3048689) Calprotectin [Mass/mass] in Stool

157

1.02

0.00

2.4

2.2

88.30

79.73

ug/g

—

119

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

0.98

0.00

5.3

3.9

4.78

10.84

umol/l

—

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

0.93

0.00

1.2

1.3

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.4

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

(3003434) Protein [Mass/volume] in Pleural fluid

0.00

-0.00

0.0

1.8

—

29.60

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.4

—

27.00

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.8

—

10.47

—

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

0.00

-0.00

0.0

1.2

—

10.40

—

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

0.00

-0.00

0.0

1.0

—

83.92

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.4

—

(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3002222) Hepatitis E virus IgM Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

3.26

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

13.00

—

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

0.00

-0.00

0.0

1.1

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.8

—

(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

137.80

—

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

0.00

-0.00

0.0

1.5

—

(3048469) 10-Hydroxycarbazepine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.9

—

56.71

—

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

0.00

-0.00

0.0

1.9

—

0.49

—

(3045142) Bone marrow Pathology biopsy report

0.00

-0.00

0.0

1.3

—

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

240

1.00

-0.00

5.6

3.7

0.00

estimate

-0.00

(3002256) Pathology report gross observation

0.89

-0.00

1.5

1.1

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

14.33

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(40760109) Toxoplasma gondii IgG Ab avidity [Ratio] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

0.00

-0.00

0.0

1.1

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

1.2

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(40759040) C peptide [Moles/volume] in Serum or Plasma --post meal

0.00

-0.00

0.0

1.2

—

2.11

—

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

0.00

-0.00

0.0

1.1

—

(40768806) Pleura Pathology biopsy report

0.00

-0.00

0.0

3.0

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(4035726) Immunohistochemistry procedure

1.02

-0.00

1.4

—

(3042631) Mycobacterium sp identified in Specimen

0.00

-0.00

0.0

1.5

—

(3012441) Differential panel - Pleural fluid

0.00

-0.00

0.0

1.6

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(3027456) Digoxin [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

3.0

—

0.62

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

129.29

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

1.3

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.4

—

6.36

—

(3013727) Leukocytes other/Leukocytes in Blood

0.00

-0.00

0.0

3.6

—

68.50

—

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

0.00

-0.00

0.0

2.3

—

(3029023) Hepatitis E virus IgG Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

0.87

-0.00

29.7

7.3

132.33

125.03

g/l

—

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

0.00

-0.00

0.0

2.2

—

254.89

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

7.8

—

61.84

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

3.6

—

154.81

—

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

0.00

-0.00

0.0

2.8

—

4.64

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_REDUCT_DEFECTS_LOWER_LIMB and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_REDUCT_DEFECTS_LOWER_LIMB.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: Q17_REDUCT_DEFECTS_LOWER_LIMB – Reduction defects of lower limb

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Reduction defects of lower limb

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