Reduction defects of upper limb

Q17_REDUCT_DEFECTS_UPPER_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 — Q71 Cause of death: ICD-10 — Q71 2 out of 7 registries used, show all original rules.	99
4. Check minimum number of events None	99
5. Include endpoints None	99
6. Filter based on genotype QC (FinnGen only)	85

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 superioris

NAME	Q17_REDUCT_DEFECTS_UPPER_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	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 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	1190	518	671
Only index persons	956	441	515
Unadjusted period prevalence (%)
Whole population	0.02	0.01	0.02
Only index persons	0.02	0.02	0.02
Median age at first event (years)
Whole population	5.82	7.97	4.12
Only index persons	9.08	11.27	7.20

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	85	49	36
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	21.64	21.87	21.32

-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
93: Matched controls
930

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q71.9

ICD-10 Finland

Reduction defect of upper limb, unspecified

+∞

20.6

Q71.88

ICD-10 Finland

Other reduction defects of upper limb(s)

+∞

20.6

Q71.81

ICD-10 Finland

Congenital reduction malformation of thumb

+∞

12.8

Q71.3

ICD-10 Finland

Congenital absence of hand and finger(s)

+∞

12.8

Q71.2

ICD-10 Finland

Congenital absence of both forearm and hand

+∞

11.7

R4110

NOMESCO Finland

Physiotherapy

4.2

10.5

164

XF400

NOMESCO Finland

ECG with 12 standard connections

4.8

10.2

Z3226

NOMESCO Finland

Physiotherapist

4.3

9.9

115

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

Z3229

NOMESCO Finland

Other healthcare associate professional

5.4

9.2

Z2221

NOMESCO Finland

Medical doctor

3.8

8.8

161

Q71.0

ICD-10 Finland

Congenital complete absence of upper limb(s)

+∞

8.5

ZXD10

NOMESCO Finland

Scheduled procedure

3.5

8.3

216

WX408

NOMESCO Finland

General anesthesy, balanced

3.5

7.8

159

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

4.4

7.7

R4120

NOMESCO Finland

Occupational therapy

6.9

7.4

ZXE10

NOMESCO Finland

More than one and less than three hours

3.2

6.8

192

ZXA00

NOMESCO Finland

Right side

3.6

6.5

NDT20

NOMESCO Finland

Correction of complicated handanomaly

+∞

6.3

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

175

2.49

4.04

2.3

2.9

—

(40768797) Stomach Pathology biopsy report

2.59

2.90

1.4

1.3

—

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

2.55

2.58

8.3

14.9

1.14

1.44

mmol/l

1.09

(3014007) Fractional oxyhemoglobin in Arterial blood

2.98

2.37

9.5

15.9

95.02

95.48

0.22

(3000991) Gas panel - Venous blood

102

2.22

2.32

7.6

13.8

—

(3044640) Blood type and Crossmatch panel - Blood

230

1.92

2.30

3.1

2.7

—

(3032080) INR in Blood by Coagulation assay

267

1.87

2.23

15.4

8.0

1.28

1.13

inr

0.95

220

(3025941) Bacteria identified in Stool by Culture

2.99

2.21

1.3

—

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

133

1.97

1.93

3.3

3.2

772.47

628.18

ng/l

0.11

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

3.70

1.87

1.2

1.0

0.00

g/l

—

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

3.70

1.87

1.2

1.0

0.00

g/l

—

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

3.49

1.77

1.2

1.0

0.00

g/l

—

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

2.82

1.77

1.1

1.5

—

(3024354) Oxygen [Partial pressure] in Venous blood

107

1.97

1.71

3.4

10.4

4.66

5.00

kpa

0.40

107

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

2.04

1.70

3.4

11.0

24.54

23.86

mmol/l

0.53

(1761868) Lipid panel - Serum or Plasma

280

0.52

1.64

1.9

2.5

—

(3018418) pH of Serum or Plasma

191

1.75

1.61

4.6

4.3

7.38

7.39

0.34

125

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

111

1.89

1.54

9.3

13.9

24.83

24.98

mmol/l

0.08

111

(3013115) Eosinophils [#/volume] in Blood

487

1.65

1.48

8.4

9.9

0.16

0.20

e9/l

1.35

427

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

3.24

1.45

1.6

1.4

9.80

10.59

mg/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

201

0.49

1.43

1.3

1.8

—

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

2.53

1.42

1.3

1.4

—

(3006315) Basophils [#/volume] in Blood

471

1.61

1.39

8.1

9.1

0.04

e9/l

0.31

407

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

0.00

1.38

0.0

1.6

—

(3019198) Lymphocytes [#/volume] in Blood

482

1.61

1.37

7.8

9.1

2.14

2.07

e9/l

0.22

432

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

0.00

1.37

0.0

1.6

—

0.95

—

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

0.00

1.37

0.0

1.6

—

0.97

—

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

0.00

1.37

0.0

1.6

—

1.27

—

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

196

0.50

1.32

1.6

2.6

—

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

181

0.50

1.26

1.6

2.4

—

(3003396) Base excess in Arterial blood by calculation

1.94

1.22

8.2

10.9

-0.63

1.83

mmol/l

1.09

(3001604) Monocytes [#/volume] in Blood

470

1.55

1.21

8.1

9.1

0.56

e9/l

0.02

409

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

128

1.72

1.21

2.3

7.2

0.87

0.80

mmol/l

0.93

122

(3042936) Bacteria identified in Isolate by Culture

104

1.78

1.19

1.9

2.5

—

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

306

1.54

1.19

4.4

6.7

36.72

36.77

g/l

0.02

297

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

1.18

0.0

1.6

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

1.18

0.0

1.6

—

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

2.09

1.15

3.9

7.9

223.00

186.42

—

(40768443) Skin Pathology biopsy report

2.44

1.15

1.0

1.1

—

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

271

1.54

1.14

1.9

82.17

95.67

pmol/l

1.55

146

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

165

1.61

1.12

2.3

3.2

2.04

2.27

mg/l

0.06

134

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

2.03

1.11

1.2

1.8

—

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

2.46

1.10

1.0

1.3

—

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

286

0.62

1.09

1.9

2.0

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.11

1.08

1.8

1.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

108

1.70

1.06

1.5

—

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

1.73

1.01

8.3

12.5

106.20

104.63

mmol/l

0.68

(42870588) Differential panel, method unspecified - Blood

316

1.47

0.99

7.5

9.8

—

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

0.00

0.98

0.0

2.1

—

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

1.77

0.97

1.3

1.5

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.97

0.0

1.6

—

1.22

—

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

0.00

0.97

0.0

2.1

—

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

447

1.43

0.90

5.8

6.2

6.30

6.19

mmol/l

0.21

415

(3021589) Normoblasts [#/volume] in Blood

439

1.42

0.87

9.8

12.1

0.00

e9/l

0.49

346

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.85

0.87

2.8

10.0

0.60

0.57

—

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

332

1.42

0.87

3.2

3.0

—

estimate

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.81

0.85

2.8

9.8

1.25

1.19

—

(40758558) Short blood count panel - Blood

305

1.42

0.84

8.3

6.8

—

(3026782) Osmolality of Urine

159

1.50

0.82

2.4

2.7

583.41

572.92

mosm/kgh2o

0.06

131

(3004588) Protein electrophoresis panel - Serum or Plasma

1.87

0.80

1.3

2.5

—

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

0.00

0.80

0.0

1.8

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.80

0.0

1.2

—

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

0.00

0.80

0.0

1.1

—

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

0.00

0.80

0.0

1.1

—

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

1.77

0.78

3.2

4.2

4.43

5.05

pmol/l

—

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

822

1.90

0.78

19.7

15.7

64.33

69.45

umol/l

1.15

812

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

108

0.53

0.78

2.7

2.5

—

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

2.24

0.77

1.2

1.6

—

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

347

1.38

0.77

4.6

3.0

68.22

70.83

nmol/l

0.24

317

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

2.05

0.74

1.0

1.2

—

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

1.81

0.73

1.0

1.7

—

(3022313) Gas panel - Capillary blood

1.58

0.72

6.1

7.0

—

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

1.97

0.72

1.2

1.5

—

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

1.97

0.72

1.0

1.3

—

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

1.97

0.72

1.0

1.2

—

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

1.97

0.72

1.0

1.2

—

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

1.97

0.72

1.2

1.5

—

(3000494) Fungus identified in Specimen by Culture

1.56

0.69

1.2

1.9

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

1.83

0.67

1.2

1.3

—

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

515

1.34

0.63

16.4

12.3

4.26

3.92

e9/l

0.39

445

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

0.00

0.61

0.0

2.3

—

(44790049) Parainfluenza type 3 nucleic acid detection

0.00

0.61

0.0

1.8

—

(44790047) Parainfluenza type 1 nucleic acid detection

0.00

0.61

0.0

1.8

—

(44806118) Parainfluenza type 4 nucleic acid detection

0.00

0.61

0.0

1.8

—

(44790048) Parainfluenza type 2 nucleic acid detection

0.00

0.61

0.0

1.8

—

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

808

1.60

0.59

15.0

14.5

27.68

24.49

mg/l

0.39

613

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

667

0.75

0.58

3.4

3.7

—

(3022145) Colonoscopy Study observation

1.60

0.58

1.3

1.6

—

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

580

1.33

0.58

4.3

5.0

9.24

9.58

mm/h

0.09

542

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

191

1.35

0.54

2.0

2.5

7.59

6.00

e6/l

0.18

167

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

1.45

0.53

5.4

6.8

—

(40761511) CBC panel - Blood by Automated count

824

1.58

0.52

15.4

10.9

—

(3023368) Bacteria identified in Blood by Culture

184

1.33

0.50

3.9

4.6

—

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

140

1.35

0.46

1.4

1.6

—

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

0.64

0.45

2.7

2.5

—

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

1.59

0.43

1.6

1.3

—

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

1.54

0.42

3.0

7.8

55.36

55.32

—

(40768793) Breast Pathology biopsy report

0.00

0.41

0.0

1.2

—

(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

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.41

0.0

4.9

—

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

1.36

0.41

2.1

2.4

—

7.98

—

(3035715) Granulocytes [#/volume] in Blood

0.00

0.41

0.0

3.6

—

3.86

—

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

0.00

0.41

0.0

5.9

—

100.88

—

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

0.00

0.41

0.0

1.6

—

(3020891) Body temperature

1.50

0.41

3.4

6.4

36.90

36.91

°c

—

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

266

1.25

0.40

1.3

1.5

—

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

1.34

0.38

1.7

2.1

24.00

27.46

u/l

—

(3019832) Treponema pallidum Ab [Presence] in Serum

155

0.74

0.37

1.7

1.9

—

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

229

0.79

0.36

6.2

3.2

0.00

0.01

estimate

—

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

1.39

0.35

1.7

1.4

—

(21494755) Public health laboratory ask at order entry panel

0.68

0.35

1.3

—

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

311

0.81

0.34

4.6

3.2

0.00

0.02

estimate

—

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

195

1.24

0.32

1.4

1.7

—

(3041096) Erythrocytes [Presence] in Urine by Automated

226

0.80

0.32

2.1

2.8

0.00

estimate

—

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

1.37

0.32

2.7

16.6

1.05

1.04

mg/l

—

(36660697) Celiac disease serology panel - Serum

113

1.28

0.28

1.4

1.2

—

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

1.24

0.26

4.3

1.9

7.46

12.08

nmol/l

—

(3000492) Spirometry study

0.69

0.25

1.8

1.5

—

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

125

1.24

0.24

2.9

4.7

19.12

23.24

—

(3037121) Protein [Mass/volume] in Urine

1.37

0.24

2.2

5.5

591.60

344.86

mg/l

—

(3019060) Gas panel - Arterial blood

1.33

0.23

1.2

4.0

—

(3012516) Albumin [Mass/volume] in Urine

192

1.19

0.23

3.2

3.3

162.01

87.16

mg/l

0.33

134

(3004616) Nuclear Ab [Presence] in Serum

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

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.9

—

(3038546) Human coronavirus OC43 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

3.5

—

25.27

—

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

0.00

0.21

0.0

1.6

—

13.24

—

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

0.00

0.21

0.0

2.0

—

1152.70

—

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

0.00

0.21

0.0

4.3

—

14.56

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.0

—

0.13

—

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

0.00

0.21

0.0

1.5

—

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

0.00

0.21

0.0

1.0

—

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

146

1.20

0.21

2.6

3.1

1.20

2.51

e6/l

—

(3020682) Albumin/Creatinine [Ratio] in Urine

194

1.18

0.21

3.7

3.9

33.12

11.76

mg/mmol

0.45

130

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

0.00

0.21

0.0

2.0

—

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

2.0

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

1.1

—

(3024522) Salmonella sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

2.0

—

(4268621) Lupus anticoagulant assay

0.00

0.21

0.0

2.4

—

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

0.00

0.21

0.0

1.1

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

0.00

0.21

0.0

2.0

—

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

0.00

0.20

0.0

2.4

—

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

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.9

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.9

—

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

0.00

0.20

0.0

1.4

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.20

0.0

1.6

—

(3017732) Neutrophils [#/volume] in Blood

109

1.22

0.20

1.8

2.8

4.25

4.41

e9/l

0.11

(40768804) Tissue Pathology biopsy report

263

1.15

0.20

2.0

1.9

—

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

1.26

0.19

1.1

—

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

121

0.81

0.19

3.1

2.6

2.54

2.44

mmol/l

—

108

(3022621) pH of Urine by Test strip

0.74

0.17

1.2

1.9

6.80

6.17

—

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

1.22

0.17

1.3

1.9

—

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

1.21

0.15

1.3

2.0

—

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

249

1.12

0.14

3.3

2.9

2.36

2.38

mmol/l

0.30

231

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

821

1.24

0.13

11.4

11.5

26.70

28.08

u/l

0.22

802

(3013512) EKG study

172

1.13

0.12

3.3

3.4

—

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

1.17

0.10

1.2

1.1

1.56

3.59

u/ml

—

(3002582) Erythrocytes [#/volume] in Urine

284

1.08

0.09

3.0

3.3

31.48

15.69

e6/l

0.44

214

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

1.06

0.09

1.0

1.4

—

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

0.82

0.08

1.3

1.9

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

303

0.94

0.06

1.6

2.0

1.64

1.38

mmol/l

0.40

268

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

159

1.08

0.05

2.3

3.1

0.92

0.82

e6/l

—

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

432

0.95

0.05

3.8

3.4

0.00

estimate

—

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

659

1.06

0.04

15.5

11.7

96.30

93.12

ml/min/173m2

0.33

567

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

240

1.06

0.04

1.5

2.3

—

(3015736) pH of Urine

350

0.95

0.03

3.8

3.1

6.30

6.26

0.07

180

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

219

0.95

0.03

3.8

2.9

281.92

21.95

ng/l

0.49

128

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

122

1.08

0.03

1.3

2.1

—

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

282

1.04

0.02

1.8

1.7

1.99

1.96

g/l

0.05

157

(3019150) Specific gravity of Urine by Refractometry

206

0.96

0.00

5.2

3.0

1.02

kg/l

0.15

131

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

426

0.97

0.00

3.8

3.4

0.00

estimate

—

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

132

0.98

0.00

1.6

1.5

—

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

248

1.01

0.00

2.6

3.2

0.27

0.39

e6/l

0.36

179

(3018095) Leukocytes [#/volume] in Urine

332

0.99

0.00

4.0

3.9

15.42

31.41

e6/l

0.84

223

(40760892) CBC W Ordered Manual Differential panel - Blood

197

1.02

0.00

4.6

6.2

—

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

295

1.03

0.00

1.8

1.5

3.00

2.59

u/ml

—

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

435

0.98

0.00

3.8

3.4

0.00

estimate

—

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

0.00

0.0

2.0

—

(3012565) Volume of 24 hour Urine

0.00

0.0

1.6

—

2090.00

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.84

0.00

1.2

1.4

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

16.8

—

(4211845) Urine protein measurement

0.00

0.0

1.4

—

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

0.00

0.0

2.0

—

58.40

—

(3022670) pH of Venous cord blood

0.00

0.0

1.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

324.20

—

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

0.00

0.0

1.2

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

14.40

—

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

0.00

0.0

1.4

—

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

0.00

0.0

8.2

—

196.94

—

(4198724) Urine methamphetamine measurement

0.00

0.0

2.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.4

—

248.60

—

(3024471) HLA-A [Type]

0.00

-0.00

0.0

1.0

—

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

0.89

-0.00

2.6

3.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

1.0

—

(3026008) Bacteria identified in Urine by Culture

200

1.00

-0.00

2.2

2.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

0.37

—

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

0.00

-0.00

0.0

1.0

—

16.19

—

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

0.00

-0.00

0.0

1.3

—

129.67

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.4

—

2.92

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.5

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

-0.00

0.0

2.0

—

8.50

—

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

0.00

-0.00

0.0

20.3

—

10.55

—

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

0.00

-0.00

0.0

1.7

—

(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

0.01

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.4

—

5.12

—

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

0.00

-0.00

0.0

1.8

—

(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

—

0.61

—

(3045142) Bone marrow Pathology biopsy report

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

1.47

—

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

0.00

-0.00

0.0

1.0

—

(36304419) Bacteria [Presence] in Urine

240

1.00

-0.00

2.7

3.1

—

estimate

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.1

—

(40768806) Pleura Pathology biopsy report

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.7

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

1.9

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.8

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

3.1

—

92.47

—

(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

-0.00

0.0

57.1

—

7.23

—

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

100

1.00

-0.00

1.5

5.9

7.90

7.54

umol/l

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

(3002256) Pathology report gross observation

0.93

-0.00

1.3

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

2.0

—

3.21

—

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

0.00

-0.00

0.0

1.0

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.8

—

(3024932) HLA-DR beta [Type]

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

4.7

—

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

0.00

-0.00

0.0

1.7

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_REDUCT_DEFECTS_UPPER_LIMB and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_REDUCT_DEFECTS_UPPER_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_UPPER_LIMB – Reduction defects of upper 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 upper 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