Reduction defects of lower limb

Q17_REDUCT_DEFECTS_LOWER_LIMB

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
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.	94
4. Check minimum number of events None	94
5. Include endpoints None	94
6. Filter based on genotype QC (FinnGen only)	94

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	94	54	40
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	22.25	27.72	14.86

-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 (R11)

↥

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
85: Matched controls
851

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)

+∞

50.0

Q72.9

ICD-10 Finland

Reduction defect of lower limb, unspecified

+∞

21.8

M21.7

ICD-10 Finland

Unequal limb length (acquired)

112.0

9.6

NFU20

NOMESCO Finland

Removal of internal fixation device from femur

49.7

7.9

TNX33

NOMESCO Finland

Custom moulded cast, unspecified region

11.3

6.2

LabWAS

↥

(ID) Name

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

2.66

4.32

1.8

2.4

1.4

0.9

mg/l

0.51

102

(3021589) Normoblasts [#/volume] in Blood

339

2.10

3.11

8.7

7.7

0.0

e9/l

0.49

273

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

3.12

3.06

1.5

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.66

2.93

2.0

1.8

—

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

148

2.16

2.65

1.6

1.5

—

(3000991) Gas panel - Venous blood

3.06

2.57

25.4

14.6

—

(3042936) Bacteria identified in Isolate by Culture

2.38

2.48

2.2

2.0

—

(3025159) Blasts/100 leukocytes in Blood

2.61

2.43

5.4

4.5

0.0

0.5

—

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

252

1.94

2.42

4.4

5.0

37.8

37.0

g/l

0.40

240

(3017181) Myelocytes/100 leukocytes in Blood

2.51

2.39

5.1

4.2

2.2

1.0

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.57

2.35

5.3

4.4

0.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.21

2.21

1.6

3.7

—

(3023368) Bacteria identified in Blood by Culture

152

1.98

2.12

3.2

4.0

—

(1002224) Polysomnography panel

2.75

1.99

1.1

—

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

3.14

1.98

1.8

1.9

—

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

3.93

1.97

1.3

1.6

—

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

232

1.81

1.94

1.6

1.8

—

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

3.69

1.87

1.3

1.6

—

(3000494) Fungus identified in Specimen by Culture

2.24

1.81

1.6

1.3

—

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

2.01

1.72

2.0

1.7

—

(3044889) 12 lead EKG panel

459

1.69

1.64

3.4

3.0

—

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

2.98

1.53

1.2

1.1

—

(3026008) Bacteria identified in Urine by Culture

196

1.69

1.46

4.9

2.8

—

(3028626) Oxygen [Partial pressure] in Capillary blood

2.84

1.46

13.2

4.5

10.3

8.8

kpa

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.84

1.46

5.0

3.5

1.2

—

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

343

1.60

1.41

5.2

4.0

—

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

0.00

1.38

0.0

1.5

—

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

3.05

1.37

2.6

2.8

56.4

60.3

—

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

3.05

1.37

1.0

1.1

—

(42870588) Differential panel, method unspecified - Blood

226

1.63

1.35

8.3

6.5

—

(4010399)

2.21

1.34

1.1

1.5

—

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

2.39

1.20

1.5

5.6

4.1

3.7

g/l

—

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

112

1.75

1.20

6.1

3.6

33.2

99.8

ng/l

—

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

290

1.52

1.13

4.3

2.4

72.7

71.7

nmol/l

0.13

261

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

200

1.57

1.11

1.5

1.4

2.1

g/l

0.05

128

(3022313) Gas panel - Capillary blood

2.28

1.10

12.7

5.5

—

(3011288) Drugs identified in Urine by Screen method

1.99

1.06

1.4

1.7

—

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

150

1.61

1.05

3.8

2.0

—

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

2.34

1.04

1.6

1.2

—

(1761868) Lipid panel - Serum or Plasma

292

0.64

0.99

1.7

2.2

—

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

289

1.46

0.96

2.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

137

0.55

0.92

1.1

1.6

—

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

2.14

0.91

1.3

1.7

—

(3034770) Mitochondria Ab [Titer] in Serum

2.14

0.91

1.0

1.6

—

(3044640) Blood type and Crossmatch panel - Blood

209

1.48

0.90

3.6

2.0

—

(3027944) Amphetamines [Presence] in Urine

1.73

0.90

1.2

1.4

—

(3000764) Benzodiazepines [Presence] in Urine

1.73

0.90

1.1

1.4

—

(3027008) Opiates [Presence] in Urine

1.73

0.90

1.1

1.4

—

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

529

1.44

0.87

8.4

7.0

78.1

74.2

u/l

0.50

503

(3028300) Cannabinoids [Presence] in Urine

1.70

0.86

1.1

1.4

—

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

2.00

0.86

51.8

5.1

27.2

24.6

mmol/l

—

(3018418) pH of Serum or Plasma

185

1.48

0.84

7.3

4.2

7.4

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.73

0.81

1.3

1.2

—

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

1.73

0.79

1.5

1.7

—

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

1.73

0.79

1.9

1.5

—

(3012544) pH of Venous blood

1.77

0.78

13.0

5.8

—

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

2.24

0.77

1.6

1.7

—

(3025941) Bacteria identified in Stool by Culture

1.74

0.77

1.2

—

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

225

1.42

0.76

2.2

1.8

99.6

96.7

pmol/l

0.15

113

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

2.14

0.76

1.6

1.7

—

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

2.14

0.76

1.2

1.8

—

(3000492) Spirometry study

1.70

0.75

1.3

1.2

—

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

1.91

0.75

1.1

1.6

—

(3016879) Cocaine [Presence] in Urine

1.64

0.72

1.1

1.4

—

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

1.68

0.68

1.3

1.8

—

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

1.69

0.68

1.1

1.5

—

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

211

1.39

0.68

1.6

3.2

2.3

mmol/l

1.31

184

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

755

1.53

0.67

19.3

11.2

22.7

21.0

mg/l

0.20

568

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

102

0.56

0.66

2.8

2.2

—

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

1.64

0.66

29.1

11.9

7.0

7.4

mmol/l

—

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

1.54

0.66

1.9

2.1

2.4

mmol/l

—

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

1.70

0.62

1.4

5.5

77.0

97.5

—

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

124

0.61

0.59

2.6

2.3

—

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

1.49

0.58

1.7

2.2

—

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

1.44

0.49

2.8

2.7

12.5

14.8

umol/l

0.56

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

223

1.30

0.47

1.4

1.3

0.6

1.2

u/ml

—

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

131

1.36

0.46

1.3

8.2

4.9

u/ml

—

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

1.43

0.45

1.3

1.4

—

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

1.65

0.44

1.4

1.1

—

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

696

1.30

0.41

12.4

9.5

98.1

94.6

ml/min/173m2

0.69

550

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

0.00

0.41

0.0

1.2

—

119.9

—

(4306422)

0.00

0.41

0.0

1.3

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.41

0.0

2.7

—

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

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.0

—

1.5

—

(3026782) Osmolality of Urine

125

1.34

0.40

6.1

2.4

500.8

547.5

mosm/kgh2o

0.32

109

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

1.40

0.40

1.2

1.5

—

(40761511) CBC panel - Blood by Automated count

805

1.41

0.39

15.5

10.0

—

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

200

1.27

0.39

1.8

2.2

—

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

248

1.24

0.38

1.9

1.7

—

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

212

1.24

0.35

5.2

3.0

16.7

29.3

ng/l

0.76

118

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

163

0.77

0.33

1.2

1.4

—

(3005033) Fetal Nuchal fold Thickness US

1.37

0.32

1.4

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

1.37

0.32

1.4

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

1.29

0.31

1.4

1.6

—

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

371

1.19

0.30

7.1

4.8

0.0

estimate

0.00

(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

—

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

295

0.84

0.28

6.5

3.3

—

(3022145) Colonoscopy Study observation

1.28

0.26

1.4

1.3

—

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

484

1.17

0.26

6.7

4.4

—

31.4

—

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

376

1.16

0.25

4.9

3.4

0.0

estimate

0.00

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

220

1.19

0.24

1.8

2.4

—

(21494755) Public health laboratory ask at order entry panel

124

0.78

0.23

1.0

1.3

—

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

0.00

0.21

0.0

10.6

—

0.6

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.2

—

29.5

—

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

0.00

0.21

0.0

18.1

—

1498.0

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

94.3

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.21

0.0

3.4

—

(40768804) Tissue Pathology biopsy report

268

0.86

0.21

1.9

1.7

—

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

0.00

0.20

0.0

1.0

—

1.1

—

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

0.00

0.20

0.0

1.1

—

10.5

—

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

381

1.13

0.20

5.0

3.4

0.0

estimate

0.00

(3019832) Treponema pallidum Ab [Presence] in Serum

186

1.17

0.19

1.7

1.9

—

(36304419) Bacteria [Presence] in Urine

194

0.85

0.19

8.0

2.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

177

1.17

0.18

8.2

4.6

—

(3032080) INR in Blood by Coagulation assay

236

1.14

0.17

4.1

6.1

0.9

1.1

inr

—

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

1.17

0.16

3.6

4.0

5.0

12.6

umol/l

—

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

1.15

0.16

5.6

6.5

—

(40768797) Stomach Pathology biopsy report

1.14

0.15

1.7

1.2

—

(3018095) Leukocytes [#/volume] in Urine

250

1.11

0.13

6.6

3.5

12.7

36.6

e6/l

0.78

176

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

163

1.13

0.12

2.5

3.5

—

(36660697) Celiac disease serology panel - Serum

1.18

0.11

1.6

1.1

—

(40758558) Short blood count panel - Blood

183

1.12

0.11

8.4

7.0

—

(4035726)

1.12

0.10

1.2

1.4

—

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

663

1.09

0.09

3.4

3.8

—

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

107

1.14

0.09

3.8

2.5

2.7

2.5

e6/l

—

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

563

1.08

0.09

4.2

3.8

14.6

pmol/l

0.05

518

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

1.03

0.08

1.6

—

(3002256) Pathology report gross observation

1.06

0.07

1.3

1.1

—

(3020682) Albumin/Creatinine [Ratio] in Urine

157

1.10

0.07

3.4

3.8

12.1

11.2

mg/mmol

0.03

103

(3048689) Calprotectin [Mass/mass] in Stool

138

1.10

0.07

1.9

2.0

91.1

86.9

ug/g

—

106

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

109

0.91

0.04

1.4

1.6

—

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

242

1.05

0.02

1.8

1.6

—

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

203

1.04

0.01

5.3

3.4

0.0

estimate

0.00

(3037467) Urinalysis macro (dipstick) panel - Urine

517

0.97

0.01

8.2

4.2

—

(3009542) Hematocrit [Volume Fraction] of Blood

743

0.98

0.00

20.3

12.2

41.1

41.4

0.13

616

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

233

0.98

0.00

6.5

3.2

—

(3015736) pH of Urine

293

0.99

0.00

4.5

3.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

225

1.03

0.00

6.7

2.8

—

(3013512) EKG study

146

1.03

0.00

3.8

3.2

—

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

115

0.95

0.00

3.9

2.5

0.2

0.7

e6/l

—

(3002582) Erythrocytes [#/volume] in Urine

214

0.98

0.00

6.9

2.9

23.7

48.1

e6/l

0.39

168

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

0.00

0.0

1.0

—

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

0.00

0.0

2.6

—

(4281824)

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

3.6

—

68.5

—

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

0.00

0.0

1.5

—

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

0.98

0.00

1.5

1.6

—

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

0.00

0.0

2.9

—

56.7

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.98

0.00

1.5

1.6

—

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

0.00

0.0

1.0

—

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

1.00

0.00

1.2

1.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

1.5

—

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

0.00

0.0

2.0

—

3.3

—

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

0.00

0.0

1.0

—

132.3

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.1

—

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

0.98

0.00

1.5

1.6

—

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

0.00

0.0

1.4

—

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

0.98

0.00

1.5

1.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.9

—

145.7

—

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

0.00

0.0

1.2

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

1.1

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.0

2.2

—

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

0.00

0.0

1.0

—

9.7

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

(3004451) EKG impression Narrative

0.00

0.0

1.6

—

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

0.95

0.00

1.2

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

2.6

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.6

—

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

0.00

0.0

7.6

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.2

—

(3015183) Erythrocyte sedimentation rate

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3019225) pH of Specimen

0.89

0.00

2.2

4.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

7.4

—

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

0.00

0.0

1.9

—

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints