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	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 — Q72 Cause of death: ICD-10 — Q72 2 out of 7 registries used, show all original rules.	96
4. Check minimum number of events None	96
5. Include endpoints None	96
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

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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	53	37
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	23.76	29.90	14.97

-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

3.7

8.5

157

N06AX21

ATC

duloxetine; oral

4.8

7.5

NFU20

NOMESCO Finland

Removal of internal fixation device from femur

24.5

6.8

N02AX02

ATC

tramadol; systemic, rectal

3.1

6.6

187

Z3229

NOMESCO Finland

Other healthcare associate professional

6.0

6.4

Q72.4

ICD-10 Finland

Longitudinal reduction defect of femur

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

141

2.51

3.84

1.8

2.4

1.37

0.92

mg/l

0.54

103

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

148

2.37

3.42

1.5

—

(3021589) Normoblasts [#/volume] in Blood

348

2.08

3.08

8.5

7.8

0.00

e9/l

0.49

281

(3024354) Oxygen [Partial pressure] in Venous blood

3.46

2.98

9.1

4.9

4.44

4.95

kpa

0.74

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

255

2.06

2.92

4.7

5.0

37.73

36.93

g/l

0.40

243

(3007853) Bacteria identified in Skin by Aerobe culture

2.54

2.70

2.0

1.8

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.48

2.60

2.5

3.6

—

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

2.84

2.46

1.5

—

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

236

1.92

2.37

1.6

1.8

—

(3002179) Metamyelocytes/100 leukocytes in Blood

2.52

2.27

4.4

5.0

0.50

0.81

—

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

103

2.19

2.26

1.9

1.7

—

(3000991) Gas panel - Venous blood

2.82

2.23

26.7

13.7

—

(3025159) Blasts/100 leukocytes in Blood

2.47

2.20

5.4

5.2

0.00

0.45

—

(3017181) Myelocytes/100 leukocytes in Blood

2.39

2.18

5.1

4.9

1.86

0.93

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.43

2.13

5.3

5.2

0.20

0.19

—

(3000494) Fungus identified in Specimen by Culture

2.32

2.05

1.6

1.3

—

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

3.93

1.96

1.3

1.6

—

(3023368) Bacteria identified in Blood by Culture

157

1.90

1.91

3.3

4.0

—

(3042936) Bacteria identified in Isolate by Culture

2.13

1.89

2.2

2.0

—

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

3.69

1.87

1.3

1.6

—

(3044889) 12 lead EKG panel

468

1.75

1.86

3.7

3.0

—

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

2.91

1.84

1.8

1.9

—

(3037522) Nuclear Ab [Titer] in Serum

113

1.97

1.77

1.5

288.00

573.33

titre

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

3.06

1.76

4.4

3.4

1.14

1.15

—

(40760892) CBC W Ordered Manual Differential panel - Blood

347

1.69

1.74

9.1

6.7

—

(3026008) Bacteria identified in Urine by Culture

205

1.76

1.70

4.8

2.8

—

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

350

1.67

3.5

2.5

—

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

3.71

1.63

1.2

1.8

—

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

3.71

1.63

1.2

1.8

—

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

3.13

1.61

1.2

—

(1002224) Polysomnography panel

2.44

1.47

1.1

—

(3028626) Oxygen [Partial pressure] in Capillary blood

2.84

1.46

13.2

4.5

10.30

8.78

kpa

—

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

3.24

1.45

4.0

2.8

10.96

9.91

g/l

—

(3002032) Base excess in Venous blood by calculation

2.21

1.45

12.5

5.8

1.64

2.44

mmol/l

0.30

(3034770) Mitochondria Ab [Titer] in Serum

2.52

1.42

1.0

1.6

—

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

3.04

1.37

1.0

1.1

—

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

0.00

1.37

0.0

1.5

—

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

116

1.80

1.34

5.2

3.5

30.30

95.96

ng/l

—

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

1.99

1.31

1.5

1.6

—

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

1.99

1.31

1.8

1.5

—

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

201

1.63

1.31

1.4

2.08

2.06

g/l

0.03

129

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

2.87

1.30

4.0

2.6

3.82

3.24

g/l

—

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

2.87

1.30

4.0

2.6

7.54

7.29

g/l

—

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

2.87

1.30

4.0

2.6

—

(3011288) Drugs identified in Urine by Screen method

2.09

1.28

1.8

1.7

—

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

294

1.55

1.24

2.3

2.2

—

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

2.72

1.23

2.6

2.7

56.42

57.04

—

(3018418) pH of Serum or Plasma

187

1.62

1.22

7.9

4.1

7.36

7.39

—

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

295

1.54

1.21

4.6

2.4

73.13

71.35

nmol/l

0.25

264

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

2.09

1.15

1.4

1.6

—

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

2.44

1.15

44.6

5.2

26.43

24.47

mmol/l

—

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

2.28

1.10

18.3

6.7

24.43

24.74

mmol/l

—

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

2.45

1.10

1.6

1.2

—

(4200892) Spirometry reversibility

2.10

1.08

1.1

1.5

—

(3027008) Opiates [Presence] in Urine

1.80

1.08

1.2

1.4

—

(3027944) Amphetamines [Presence] in Urine

1.80

1.08

1.3

1.4

—

(3000764) Benzodiazepines [Presence] in Urine

1.80

1.08

1.2

1.4

—

(3022313) Gas panel - Capillary blood

2.21

1.08

12.7

6.5

—

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

211

1.54

1.06

1.6

3.0

2.29

2.35

mmol/l

1.45

185

(3028300) Cannabinoids [Presence] in Urine

1.78

1.04

1.2

1.4

—

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

540

1.48

1.01

8.5

6.8

77.73

74.42

u/l

0.41

513

(1761868) Lipid panel - Serum or Plasma

291

0.64

0.97

1.7

2.2

—

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

233

1.49

0.97

2.6

1.8

100.72

95.90

pmol/l

0.31

116

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

2.30

0.95

1.5

5.4

4.05

3.70

g/l

—

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

154

1.56

0.94

3.8

2.0

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

140

0.53

0.92

1.1

1.6

—

(3016879) Cocaine [Presence] in Urine

1.72

0.90

1.2

1.4

—

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

1.89

0.88

26.1

11.9

7.41

7.43

mmol/l

—

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

1.65

0.88

2.1

2.2

2.39

2.43

mmol/l

—

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

1.78

0.86

1.3

1.6

—

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

2.00

0.86

1.3

1.7

—

(3044640) Blood type and Crossmatch panel - Blood

211

1.46

0.85

3.6

2.0

—

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

133

1.53

0.81

1.3

1.2

8.23

4.84

u/ml

—

(3025941) Bacteria identified in Stool by Culture

1.77

0.78

1.2

—

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

2.24

0.77

1.6

1.7

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.24

0.77

5.4

3.4

0.48

0.67

—

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

2.14

0.75

1.2

1.8

—

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

2.14

0.75

1.6

1.7

—

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

773

1.54

0.70

19.3

11.2

22.86

20.92

mg/l

0.24

583

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

1.64

0.66

1.3

1.8

—

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

1.66

0.64

18.6

6.3

104.10

104.73

mmol/l

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.69

0.64

1.3

1.2

—

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

1.70

0.62

1.4

5.5

77.00

97.50

—

(3000492) Spirometry study

1.60

0.62

1.3

1.2

—

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

226

1.34

0.57

1.3

0.59

1.57

u/ml

—

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

101

1.45

0.53

1.6

2.2

—

(40761511) CBC panel - Blood by Automated count

820

1.47

0.47

15.7

10.0

—

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

1.43

0.45

1.3

1.4

—

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

253

1.27

0.44

1.9

1.7

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.65

0.43

2.2

2.1

—

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

102

0.66

0.42

3.1

2.2

—

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

1.54

0.42

1.4

1.3

—

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

0.00

0.41

0.0

1.0

—

4.90

—

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

0.00

0.41

0.0

1.1

—

10.46

—

(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.41

0.0

1.2

—

119.94

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.41

0.0

2.7

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.41

0.0

3.4

—

8.95

—

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

0.00

0.40

0.0

1.0

—

1.22

—

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

0.00

0.40

0.0

1.1

—

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

1.38

0.40

3.5

2.6

12.50

14.79

umol/l

0.55

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

1.36

0.39

1.2

1.5

—

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

124

0.70

0.38

2.9

2.2

—

(3022145) Colonoscopy Study observation

1.41

0.36

1.4

—

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

202

1.25

0.36

2.7

2.4

42.96

55.45

u/l

1.83

190

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

495

1.21

0.35

6.6

4.4

—

31.36

—

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

378

1.20

0.33

7.4

4.8

0.00

estimate

-0.00

(3022217) INR in Platelet poor plasma by Coagulation assay

271

1.21

0.33

4.3

7.9

0.95

1.14

inr

4.07

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

713

1.24

0.32

12.8

9.5

97.40

94.41

ml/min/173m2

0.50

564

(3005033) Fetal Nuchal fold Thickness US

1.35

0.31

1.4

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

1.35

0.31

1.4

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

1.27

0.30

1.4

1.6

—

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

207

1.21

0.29

2.0

2.2

—

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

1.27

0.28

1.0

—

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

383

1.17

0.27

5.1

3.4

0.00

estimate

-0.00

(3027945) Reticulocytes/100 erythrocytes in Blood

1.28

0.26

3.4

3.7

1.79

1.73

—

(21494755) Public health laboratory ask at order entry panel

125

0.78

0.24

1.0

1.3

—

(3020682) Albumin/Creatinine [Ratio] in Urine

163

1.21

0.24

4.0

3.7

11.28

10.76

mg/mmol

0.02

109

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

388

1.15

0.22

5.1

3.4

0.00

estimate

-0.00

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

300

0.86

0.22

6.3

3.2

—

(3012516) Albumin [Mass/volume] in Urine

155

1.20

0.22

3.8

3.3

54.42

72.21

mg/l

0.16

103

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

18.1

—

1498.00

—

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

0.00

0.21

0.0

1.2

—

29.55

—

(3019832) Treponema pallidum Ab [Presence] in Serum

194

1.17

0.21

1.7

1.9

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.21

0.0

3.4

—

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

0.00

0.21

0.0

1.2

—

94.31

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

0.21

0.0

1.0

—

(36304419) Bacteria [Presence] in Urine

195

0.84

0.20

8.1

2.9

—

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

163

0.83

0.19

1.3

1.4

—

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

1.24

0.18

3.6

3.3

18.42

22.84

—

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

574

1.12

0.17

4.7

3.8

14.67

14.57

pmol/l

0.11

527

(40758558) Short blood count panel - Blood

188

1.15

0.16

7.4

6.9

—

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

227

1.14

0.16

2.1

2.4

—

(40768804) Tissue Pathology biopsy report

273

0.89

0.15

2.0

1.7

—

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

1.11

0.15

5.6

6.6

—

(3018095) Leukocytes [#/volume] in Urine

251

1.11

0.12

6.9

3.6

12.71

37.11

e6/l

0.81

177

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

671

1.10

0.11

3.5

3.8

—

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

223

1.10

0.10

4.6

3.1

17.26

29.74

ng/l

0.72

128

(36660697) Celiac disease serology panel - Serum

1.17

0.10

1.5

1.1

—

(4035726) Immunohistochemistry procedure

1.09

0.10

1.2

1.4

—

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

165

1.11

0.09

2.8

3.5

—

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

107

1.14

0.09

4.0

2.5

2.93

2.49

e6/l

—

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

112

0.88

0.07

1.4

1.6

—

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

1.03

0.07

3.8

3.9

5.13

12.57

umol/l

—

(3048689) Calprotectin [Mass/mass] in Stool

139

1.09

0.06

1.9

2.0

91.10

87.00

ug/g

—

106

(3041096) Erythrocytes [Presence] in Urine by Automated

229

1.06

0.05

6.4

2.8

—

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

103

1.08

0.02

19.9

3.8

0.77

0.81

mmol/l

0.79

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

247

0.96

0.01

1.8

1.6

—

(3013512) EKG study

148

1.02

0.00

3.9

3.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

527

1.01

0.00

8.2

4.3

—

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

115

0.95

0.00

4.1

2.5

0.04

0.69

e6/l

—

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

206

1.02

0.00

5.3

3.4

0.00

estimate

-0.00

(3002582) Erythrocytes [#/volume] in Urine

214

0.98

0.00

7.0

2.9

23.99

47.94

e6/l

0.38

169

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

234

0.98

0.00

6.6

3.3

—

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

0.95

0.00

1.5

1.6

—

(3002256) Pathology report gross observation

0.91

0.00

1.3

1.1

—

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

0.95

0.00

1.5

1.6

—

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

0.95

0.00

1.2

1.4

—

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

0.95

0.00

1.5

1.6

—

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

0.95

0.00

1.5

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.90

-0.00

32.6

5.9

131.80

127.51

g/l

—

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

0.00

-0.00

0.0

2.2

—

254.89

—

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

0.00

-0.00

0.0

1.1

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

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

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.1

—

(3015736) pH of Urine

310

1.00

-0.00

4.5

3.1

—

5.73

—

(3048518) aPTT.lupus sensitive actual/normal (normalized LA screen)

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

132.33

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.9

—

145.67

—

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

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

—

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

0.00

-0.00

0.0

1.0

—

(3042631) Mycobacterium sp identified in Specimen

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

2.9

—

56.71

—

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

0.98

-0.00

1.2

1.6

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

7.6

—

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

0.00

-0.00

0.0

1.9

—

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

0.00

-0.00

0.0

1.2

—

(40768800) Prostate Pathology biopsy report

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

—

(3015183) Erythrocyte sedimentation rate

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

9.72

—

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

0.00

-0.00

0.0

1.3

—

(40768797) Stomach Pathology biopsy report

0.91

-0.00

1.8

1.2

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.1

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.7

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

-0.00

0.0

3.6

—

68.50

—

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

0.00

-0.00

0.0

1.3

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.4

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

2.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

1.00

-0.00

1.6

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.6

—

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

0.00

-0.00

0.0

1.4

—

(3019225) pH of Specimen

0.87

-0.00

2.2

4.3

—

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

0.00

-0.00

0.0

1.1

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

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