Reduction defects of upper limb, including avohilmo

Q17_REDUCT_DEFECTS_UPPER_LIMB_WIDE

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: Primary healthcare outpatient: ICD-10 — Q71 Hospital discharge: ICD-10 — Q71 Cause of death: ICD-10 — Q71 3 out of 7 registries used, show all original rules.	118
4. Check minimum number of events None	118
5. Include endpoints None	118
6. Filter based on genotype QC (FinnGen only)	102

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: DF13
Parent code in ICD-10: Q6[5-9]|Q7
Name in latin: Defectus reductionales membri superioris

NAME	Q17_REDUCT_DEFECTS_UPPER_LIMB_WIDE
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD	Q71
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q71
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q71
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 upper limb, including avohilmo 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-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	102	58	44
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	33.46	31.00	36.69

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
112: Matched controls
1120

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q71.88

ICD-10 Finland

Other reduction defects of upper limb(s)

+∞

27.2

Q71.9

ICD-10 Finland

Reduction defect of upper limb, unspecified

+∞

22.7

Q71.3

ICD-10 Finland

Congenital absence of hand and finger(s)

+∞

14.9

Q71.2

ICD-10 Finland

Congenital absence of both forearm and hand

+∞

13.8

Q71.81

ICD-10 Finland

Congenital reduction malformation of thumb

+∞

12.7

Z3226

NOMESCO Finland

Physiotherapist

4.1

10.8

134

R4110

NOMESCO Finland

Physiotherapy

3.8

10.8

196

XF400

NOMESCO Finland

ECG with 12 standard connections

4.4

10.6

R4120

NOMESCO Finland

Occupational therapy

6.2

10.0

Q71.4

ICD-10 Finland

Longitudinal reduction defect of radius

+∞

9.5

Q71.80

ICD-10 Finland

Congenital reduction malformation of finger (s)

+∞

9.5

Z2221

NOMESCO Finland

Medical doctor

3.5

9.2

193

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

4.3

8.9

ZXD10

NOMESCO Finland

Scheduled procedure

3.2

8.6

250

Q71.0

ICD-10 Finland

Congenital complete absence of upper limb(s)

+∞

8.4

Z3229

NOMESCO Finland

Other healthcare associate professional

4.6

8.3

ZXE10

NOMESCO Finland

More than one and less than three hours

3.0

7.5

228

Q71

ICD-10 Finland

Reduction defects of upper limb

+∞

7.4

WX408

NOMESCO Finland

General anesthesy, balanced

3.0

6.9

187

NDT20

NOMESCO Finland

Correction of complicated handanomaly

+∞

6.3

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

4.5

6.1

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

216

2.24

3.75

2.3

2.7

—

(40768797) Stomach Pathology biopsy report

104

2.39

2.99

1.4

1.3

—

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

166

2.10

2.81

3.1

3.0

775.11

534.31

ng/l

0.23

108

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

335

1.89

2.71

2.0

1.9

88.06

97.68

pmol/l

1.05

176

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

103

2.28

2.63

3.1

10.1

24.43

23.96

mmol/l

0.40

103

(3032080) INR in Blood by Coagulation assay

338

1.87

2.62

15.9

8.8

1.26

1.13

inr

0.97

280

(3000991) Gas panel - Venous blood

117

2.10

2.26

12.4

14.0

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

2.24

2.14

14.6

15.2

1.12

1.53

mmol/l

1.28

(3012544) pH of Venous blood

130

1.97

2.01

3.2

10.3

7.39

7.38

0.37

(3014007) Fractional oxyhemoglobin in Arterial blood

2.42

1.88

18.2

16.0

94.93

94.26

0.24

(3044640) Blood type and Crossmatch panel - Blood

285

1.69

1.83

3.0

2.6

—

(3024354) Oxygen [Partial pressure] in Venous blood

119

1.94

1.82

3.2

9.6

4.76

4.96

kpa

0.22

119

(3000494) Fungus identified in Specimen by Culture

120

1.92

1.78

1.2

1.8

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

2.79

1.76

1.3

1.4

—

(3025941) Bacteria identified in Stool by Culture

2.38

1.70

1.3

—

(3018418) pH of Serum or Plasma

248

1.67

1.64

4.0

3.9

7.38

7.39

0.33

168

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

2.45

1.64

1.2

1.4

—

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

157

1.76

1.58

2.3

6.2

0.86

0.81

mmol/l

0.76

149

(3042936) Bacteria identified in Isolate by Culture

133

1.81

1.57

1.8

2.4

—

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

0.00

1.56

0.0

1.6

—

0.95

—

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

0.00

1.56

0.0

1.6

—

0.95

—

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

0.00

1.56

0.0

1.6

—

1.18

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.20

1.55

1.6

1.1

—

(40768443) Skin Pathology biopsy report

2.55

1.52

1.0

1.2

—

(1761868) Lipid panel - Serum or Plasma

365

0.59

1.47

2.2

2.6

—

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

120

1.81

1.46

14.6

14.0

25.04

25.05

mmol/l

0.01

120

(3007853) Bacteria identified in Skin by Aerobe culture

128

1.79

1.46

1.4

1.5

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

2.82

1.45

1.2

1.0

0.00

g/l

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

2.82

1.45

1.2

1.0

0.00

g/l

—

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

2.82

1.45

1.5

1.4

10.08

9.75

mg/l

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

2.70

1.38

1.2

1.0

0.00

g/l

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

1.37

0.0

1.6

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

1.35

0.0

1.7

—

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

0.00

1.34

0.0

1.6

—

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

2.58

1.32

1.2

1.9

—

(3019198) Lymphocytes [#/volume] in Blood

582

1.48

1.19

7.2

9.0

2.10

2.04

e9/l

0.24

525

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

377

1.48

1.19

4.2

6.3

36.45

36.91

g/l

0.19

368

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

0.00

1.18

0.0

2.1

—

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

0.00

1.18

0.0

2.0

—

(3005033) Fetal Nuchal fold Thickness US

0.00

1.16

0.0

1.6

—

1.21

—

(3013115) Eosinophils [#/volume] in Blood

584

1.47

1.16

7.8

9.8

0.16

0.20

e9/l

1.65

517

(3006315) Basophils [#/volume] in Blood

567

1.45

1.10

7.5

9.1

0.04

e9/l

0.67

496

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

2.44

1.10

1.0

—

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

200

1.53

1.08

2.2

3.0

1.89

2.12

mg/l

0.08

159

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

549

1.44

1.07

7.0

6.1

6.42

6.31

mmol/l

0.21

514

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

1.72

1.07

1.3

1.6

—

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

1.97

1.05

1.1

2.0

—

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

104

977

1.90

1.02

14.4

14.2

26.61

24.00

mg/l

0.34

749

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

2.07

1.02

1.0

1.3

—

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

106

1001

2.10

1.01

19.0

15.8

65.48

70.14

umol/l

1.29

106

990

(40758558) Short blood count panel - Blood

360

1.42

0.98

7.7

7.0

—

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

0.00

0.96

0.0

1.1

—

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

0.00

0.96

0.0

1.1

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

226

0.61

0.96

1.3

1.8

—

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

2.29

0.95

1.2

1.6

—

(3001604) Monocytes [#/volume] in Blood

567

1.40

0.94

7.5

9.1

0.55

0.56

e9/l

0.03

499

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

1.83

0.94

1.2

1.7

—

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

112

1.61

0.91

14.1

12.8

106.12

104.45

mmol/l

0.88

112

(42870588) Differential panel, method unspecified - Blood

374

1.39

0.90

6.9

9.2

—

(3022313) Gas panel - Capillary blood

1.65

0.90

5.8

6.8

—

(3003396) Base excess in Arterial blood by calculation

1.68

0.89

15.8

11.7

-0.21

1.54

mmol/l

0.71

(3012516) Albumin [Mass/volume] in Urine

237

1.43

0.85

3.1

3.4

127.34

91.91

mg/l

0.18

160

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

1.76

0.82

3.9

6.9

223.00

180.74

—

(3021589) Normoblasts [#/volume] in Blood

518

1.34

0.78

9.2

11.9

0.00

e9/l

0.49

414

(3020682) Albumin/Creatinine [Ratio] in Urine

241

1.40

0.78

3.8

4.0

24.08

12.39

mg/mmol

0.32

157

(3022145) Colonoscopy Study observation

1.60

0.76

1.2

1.6

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

2.13

0.75

1.0

1.3

—

(3013512) EKG study

215

1.40

0.75

3.1

3.5

—

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

1.90

0.75

1.4

1.2

—

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

434

1.32

0.71

4.4

2.9

67.61

72.42

nmol/l

0.60

399

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

1.82

0.67

1.2

1.4

—

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

1.82

0.67

1.2

1.4

—

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

167

1.39

0.63

1.5

1.6

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.61

0.0

1.1

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.61

0.0

1.1

—

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

0.00

0.61

0.0

5.1

—

98.95

—

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

0.00

0.60

0.0

2.3

—

(40768793) Breast Pathology biopsy report

0.00

0.60

0.0

1.3

—

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

413

1.28

0.60

3.1

2.9

—

estimate

—

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

178

1.37

0.59

1.3

1.4

9.30

30.84

iu/ml

—

(44806118) Parainfluenza type 4 nucleic acid detection

0.00

0.59

0.0

1.7

—

(44790047) Parainfluenza type 1 nucleic acid detection

0.00

0.59

0.0

1.7

—

(44790048) Parainfluenza type 2 nucleic acid detection

0.00

0.59

0.0

1.7

—

(44790049) Parainfluenza type 3 nucleic acid detection

0.00

0.59

0.0

1.7

—

(3023368) Bacteria identified in Blood by Culture

224

1.33

0.59

3.6

4.6

—

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

1.75

0.59

1.0

1.2

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.52

0.58

2.8

8.8

0.60

0.59

—

(40761511) CBC panel - Blood by Automated count

104

997

1.60

0.58

14.3

10.9

—

(3009508) Creatinine [Moles/volume] in Urine

318

1.30

0.58

3.6

3.4

6.43

8.47

mmol/l

2.27

280

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

1.70

0.57

1.0

1.2

—

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

1.70

0.57

1.0

1.2

—

(3005719) IgG [Mass/volume] in Serum or Plasma

109

1.43

0.54

2.1

2.6

9.10

9.82

g/l

0.45

104

(3004588) Protein electrophoresis panel - Serum or Plasma

1.57

0.54

1.3

2.2

—

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

1.52

0.53

2.1

2.4

—

7.98

—

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

1.53

0.52

2.8

6.9

55.67

57.28

—

(3013707) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method

720

1.27

0.52

4.2

4.8

8.62

9.38

mm/h

0.27

675

(21494755) Public health laboratory ask at order entry panel

109

0.62

0.51

1.3

—

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

326

0.77

0.50

2.0

1.9

—

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

126

0.69

0.46

3.4

2.5

—

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

232

1.28

0.46

1.4

1.7

—

(3026782) Osmolality of Urine

186

1.30

0.45

2.3

2.6

583.41

569.72

mosm/kgh2o

0.09

155

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

624

1.23

0.44

14.5

12.4

4.31

3.90

e9/l

0.60

545

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.49

0.44

2.8

8.7

1.25

1.29

—

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

277

0.79

0.42

5.4

3.2

0.00

0.01

estimate

—

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

142

1.32

0.42

1.3

2.0

—

(3025547) Thyroglobulin Ab [Units/volume] in Serum or Plasma

0.00

0.41

0.0

2.9

—

134.03

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.41

0.0

1.5

—

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

0.00

0.41

0.0

1.1

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.41

0.0

2.8

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.41

0.0

2.3

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

0.00

0.41

0.0

2.3

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.41

0.0

4.7

—

(4268621) Lupus anticoagulant assay

0.00

0.41

0.0

2.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

1.49

0.41

1.2

1.3

—

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

223

0.77

0.40

2.3

2.6

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.40

0.0

1.5

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.39

0.0

1.6

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

1.29

0.37

3.2

4.3

4.43

5.13

pmol/l

—

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

1.35

0.34

1.2

1.1

1.30

4.52

u/ml

—

(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

1.32

0.33

1.2

1.6

—

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

318

1.19

0.33

1.3

1.6

—

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

205

0.80

0.31

2.2

2.4

—

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

106

0.74

0.30

3.8

2.4

—

(40768804) Tissue Pathology biopsy report

340

1.18

0.30

1.8

1.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

182

0.80

0.29

1.8

1.9

—

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

103

1001

1.36

0.29

11.1

11.6

29.11

28.42

u/l

0.09

103

977

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

379

0.85

0.28

4.3

3.2

0.00

0.01

estimate

—

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

226

1.20

0.28

1.9

2.6

7.26

9.29

e6/l

0.17

199

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

161

1.22

0.26

2.6

4.4

15.96

23.45

—

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

105

1.27

0.26

1.3

1.9

—

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

1.33

0.23

1.8

1.7

—

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

163

1.20

0.23

1.4

22.10

9.62

u/ml

—

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

0.75

0.23

1.3

2.0

—

(3020891) Body temperature

1.29

0.23

3.4

5.9

36.90

36.92

°c

—

(3037121) Protein [Mass/volume] in Urine

1.26

0.23

2.2

5.5

591.60

332.64

mg/l

—

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

126

1.22

0.22

1.7

5.3

8.60

7.04

umol/l

0.20

110

(3019060) Gas panel - Arterial blood

1.20

0.22

1.2

4.5

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.5

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.9

—

1074.45

—

(3019897) Erythrocyte [DistWidth] in Red Blood Cells by Automated count

0.00

0.21

0.0

1.5

—

13.22

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

3.3

—

24.22

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.1

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.3

—

0.13

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.8

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.21

0.0

2.5

—

91.17

—

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

0.00

0.21

0.0

1.1

—

(3042299) inFLIXimab [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

16.6

—

9.95

—

(3001684) Respiratory syncytial virus Ag [Presence] in Specimen

0.00

0.21

0.0

1.2

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.5

—

(3015076) Soybean IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

0.13

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.20

0.0

1.1

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.20

0.0

5.4

—

12.61

—

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

301

1.14

0.20

1.9

2.7

—

0.40

—

(3041096) Erythrocytes [Presence] in Urine by Automated

277

0.87

0.19

2.4

2.8

0.00

estimate

—

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

1.20

0.18

2.7

14.8

1.05

1.07

mg/l

—

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

284

1.13

0.17

2.0

2.3

—

(3015736) pH of Urine

418

0.90

0.17

3.8

3.0

6.18

6.22

0.06

219

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

0.70

0.17

2.6

2.8

—

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

1.22

0.16

1.1

—

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

1.14

0.15

5.4

6.3

—

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

828

1.11

0.13

15.1

11.8

95.41

92.62

ml/min/173m2

0.37

726

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

1.17

0.10

1.0

1.3

—

(3026008) Bacteria identified in Urine by Culture

237

0.91

0.10

2.4

2.6

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

1.07

0.09

1.0

1.9

0.23

0.22

g/l

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

1.04

0.09

1.0

1.9

1.24

1.19

g/l

—

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

107

1.14

0.09

1.3

1.9

—

(1002224) Polysomnography panel

1.08

0.09

1.2

1.1

—

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

1.06

0.08

1.7

1.4

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.84

0.08

1.2

1.4

—

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

295

0.93

0.07

2.5

3.1

0.27

0.37

e6/l

0.30

209

(3002256) Pathology report gross observation

0.84

0.07

1.3

—

(3000492) Spirometry study

102

0.87

0.06

1.6

1.5

—

(3019150) Specific gravity of Urine by Refractometry

243

0.93

0.06

5.3

3.0

1.02

kg/l

0.31

154

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

179

1.07

0.05

2.5

3.0

1.20

2.33

e6/l

—

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

352

0.95

0.05

1.7

1.5

3.00

2.41

u/ml

—

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

791

0.95

0.04

3.5

3.7

—

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

521

0.96

0.04

3.7

3.3

0.00

estimate

—

(36660697) Celiac disease serology panel - Serum

141

1.07

0.03

1.4

1.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

242

1.04

0.02

4.2

6.8

—

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

193

1.04

0.01

2.1

3.0

1.23

0.80

e6/l

—

108

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

517

0.98

0.01

3.7

3.3

0.00

estimate

—

(36304419) Bacteria [Presence] in Urine

286

0.97

0.00

2.5

3.0

—

estimate

—

(3018095) Leukocytes [#/volume] in Urine

396

0.98

0.00

3.6

3.9

16.67

29.80

e6/l

0.74

267

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

526

0.98

0.00

3.7

3.3

0.00

estimate

—

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

165

1.04

0.00

1.5

—

(3002582) Erythrocytes [#/volume] in Urine

344

0.98

0.00

2.8

3.2

59.74

15.38

e6/l

0.73

257

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

334

0.98

0.00

1.7

1.6

2.02

1.99

g/l

0.04

189

(3017446) Testosterone [Moles/volume] in Serum or Plasma

1.06

0.00

4.0

2.0

8.81

12.84

nmol/l

—

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

0.00

0.0

1.8

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

3.0

—

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

0.00

0.0

2.0

—

54.17

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

12.17

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.0

2.0

—

8.50

—

(3012565) Volume of 24 hour Urine

0.00

0.0

1.5

—

2025.00

—

(3024471) HLA-A [Type]

0.00

0.0

1.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.8

—

(3024932) HLA-DR beta [Type]

0.00

0.0

1.2

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

5.5

—

1.68

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

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

0.94

-0.00

2.4

1.8

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

-0.00

0.0

1.3

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

-0.00

0.0

2.1

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

14.60

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

-0.00

0.0

2.1

—

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

270

1.00

-0.00

3.7

3.0

226.67

24.55

ng/l

0.47

158

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

0.00

-0.00

0.0

1.3

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

0.00

-0.00

0.0

1.0

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

250.43

—

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

0.00

-0.00

0.0

1.4

—

127.88

—

(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.1

—

290.57

—

(44816893) Food Allergen Mix 50 (Kiwi+Pineapple+Banana+Mango) IgE Ab [Units/volume] in Serum by Multidisk

0.00

-0.00

0.0

1.0

—

0.52

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

4.0

—

61.20

—

(3036432) Mycobacterium tuberculosis genotype [Identifier] in Isolate

0.00

-0.00

0.0

17.8

—

(3032352) Blasts [#/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

7.0

—

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

0.00

-0.00

0.0

1.0

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.4

—

2.92

—

(36304052) Adalimumab Ab [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.9

—

(40765096) Chromosome analysis panel by Banding

0.00

-0.00

0.0

1.6

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

1.4

—

(3028433) Virus identified in Specimen by Culture

0.00

-0.00

0.0

1.4

—

(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline

0.00

-0.00

0.0

1.2

—

5.35

—

(3038026) Centromere Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.1

—

(3003245) Complement C1 esterase inhibitor [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.1

—

0.35

—

(3034426) Prothrombin time (PT)

0.00

-0.00

0.0

1.2

—

27.20

—

(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

-0.00

0.0

57.1

—

7.23

—

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

0.00

-0.00

0.0

1.2

—

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

1.02

-0.00

1.0

1.4

—

(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection

0.00

-0.00

0.0

4.7

—

(3042631) Mycobacterium sp identified in Specimen

0.00

-0.00

0.0

13.6

—

(3013727) Leukocytes other/Leukocytes in Blood

0.00

-0.00

0.0

4.0

—

48.60

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

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

1.1

—

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

0.00

-0.00

0.0

6.7

—

146.24

—

(3022670) pH of Venous cord blood

0.00

-0.00

0.0

1.0

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.1

—

(3009595) Pneumocystis jirovecii DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(3022411) Androstenedione [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.2

—

5.12

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

1.8

—

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_REDUCT_DEFECTS_UPPER_LIMB_WIDE – Reduction defects of upper limb, including avohilmo

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).

≡ Risteys

R14

FinnGen R13 + FinRegistry

FinnGen R12 + FinRegistry

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Reduction defects of upper limb, including avohilmo

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Reduction defects of upper limb, including avohilmo (Q17_REDUCT_DEFECTS_UPPER_LIMB_WIDE)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS

Matched cohort

LabWAS

Mortality – FinRegistry

Relationships between endpoints