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	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 — Q71 Cause of death: ICD-10 — Q71 2 out of 7 registries used, show all original rules.	95
4. Check minimum number of events None	95
5. Include endpoints None	95
6. Filter based on genotype QC (FinnGen only)	86

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	86	49	37
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	22.30	21.87	22.86

-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

↥

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
95: Matched controls
950

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q71.9

ICD-10 Finland

Reduction defect of upper limb, unspecified

+∞

21.7

Q71.88

ICD-10 Finland

Other reduction defects of upper limb(s)

+∞

20.6

Q71.3

ICD-10 Finland

Congenital absence of hand and finger(s)

+∞

13.9

Q71.81

ICD-10 Finland

Congenital reduction malformation of thumb

+∞

12.8

Q71.2

ICD-10 Finland

Congenital absence of both forearm and hand

+∞

11.7

XF400

NOMESCO Finland

ECG with 12 standard connections

5.1

11.4

R4110

NOMESCO Finland

Physiotherapy

4.2

10.7

162

Z3226

NOMESCO Finland

Physiotherapist

4.2

9.8

121

Q71.4

ICD-10 Finland

Longitudinal reduction defect of radius

+∞

9.5

Z2221

NOMESCO Finland

Medical doctor

3.8

9.1

164

Z3229

NOMESCO Finland

Other healthcare associate professional

5.2

8.9

Q71.80

ICD-10 Finland

Congenital reduction malformation of finger (s)

+∞

8.5

Q71.0

ICD-10 Finland

Congenital complete absence of upper limb(s)

+∞

8.5

ZXD10

NOMESCO Finland

Scheduled procedure

3.5

8.4

221

WX408

NOMESCO Finland

General anesthesy, balanced

3.5

8.1

162

R4120

NOMESCO Finland

Occupational therapy

8.0

8.1

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

4.5

8.0

ZXE10

NOMESCO Finland

More than one and less than three hours

3.3

7.5

196

ND2AA

NOMESCO Finland

Hand and fingers X-ray examination

4.2

6.6

NDT20

NOMESCO Finland

Correction of complicated handanomaly

+∞

6.3

ZXA00

NOMESCO Finland

Right side

3.5

6.3

WX402

NOMESCO Finland

General anaesthesia

3.1

6.0

132

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

160

2.51

4.02

2.2

2.6

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

321

2.09

3.08

7.2

10.1

1.23

1.22

mmol/l

0.24

288

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

202

2.06

2.71

1.6

1.9

78.56

91.94

pmol/l

1.74

112

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

114

2.21

2.46

2.6

3.0

770.67

403.64

ng/l

0.35

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.16

2.36

1.7

1.2

—

(3044640) Blood type and Crossmatch panel - Blood

205

1.93

2.27

3.1

2.6

—

(3000991) Gas panel - Venous blood

2.22

2.25

7.6

11.2

—

(40768797) Stomach Pathology biopsy report

2.36

2.11

1.3

—

(3022217) INR in Platelet poor plasma by Coagulation assay

245

1.84

2.07

14.8

7.9

1.13

1.15

inr

—

(3014007) Fractional oxyhemoglobin in Arterial blood

3.00

2.06

10.7

10.6

94.80

95.64

—

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

109

2.06

1.96

2.0

7.4

0.89

0.80

mmol/l

1.38

103

(3025941) Bacteria identified in Stool by Culture

2.82

1.92

1.3

—

(3042936) Bacteria identified in Isolate by Culture

2.06

1.74

1.9

2.4

—

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

292

1.71

1.74

4.3

2.9

64.31

72.13

nmol/l

1.06

263

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

2.13

1.70

7.7

10.8

105.93

104.44

mmol/l

0.62

(3052851) Hemolysis interference index of Serum or Plasma

2.94

1.68

3.3

3.2

—

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

178

0.45

1.62

1.8

2.5

—

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

2.82

1.61

1.3

1.4

—

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

163

0.44

1.55

1.8

2.3

—

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

3.46

1.54

1.2

1.0

0.00

g/l

—

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

3.46

1.54

1.2

1.0

0.00

g/l

—

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

152

1.77

1.51

2.3

3.2

2.04

1.95

mg/l

0.02

124

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

2.84

1.46

1.2

1.4

—

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

3.24

1.45

1.6

1.3

9.80

9.75

mg/l

—

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

3.24

1.45

1.2

1.0

0.00

g/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

100

1.85

1.34

1.5

1.4

—

(3013707) Erythrocyte sedimentation rate by Westergren method

544

1.62

1.34

3.6

4.6

9.32

9.69

mm/h

0.09

508

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

2.47

1.33

3.9

8.9

223.00

182.82

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.33

1.28

2.6

11.9

0.63

0.60

—

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

2.16

1.27

1.2

1.8

—

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

785

2.01

1.23

12.6

12.5

27.47

24.18

mg/l

0.38

559

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.20

1.22

2.6

11.4

1.25

1.14

—

(40768443) Skin Pathology biopsy report

2.39

1.20

1.0

1.2

—

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

104

1.77

1.19

9.8

11.3

25.28

24.85

mmol/l

0.27

104

(3012544) pH of Venous blood

104

1.77

1.19

3.5

11.4

—

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

0.00

1.18

0.0

1.6

—

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

0.00

1.18

0.0

1.6

—

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

0.00

1.18

0.0

1.6

—

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

0.00

1.18

0.0

1.6

—

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

2.58

1.16

1.0

1.3

—

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

2.58

1.16

1.2

1.5

—

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

2.58

1.16

1.2

1.0

—

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

1.85

1.16

3.6

11.2

24.29

23.70

mmol/l

0.43

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

2.05

1.07

2.1

3.8

4.43

5.09

pmol/l

—

(3013115) Eosinophils [#/volume] in Blood

448

1.48

1.04

8.3

9.3

0.16

0.20

e9/l

1.14

399

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

171

0.54

1.04

1.3

1.7

—

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

1.91

1.03

1.4

—

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

421

1.46

1.00

5.4

5.3

6.34

6.22

mmol/l

0.20

383

(3005033) Fetal Nuchal fold Thickness US

0.00

0.99

0.0

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.99

0.0

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.98

0.0

1.6

—

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

0.00

0.97

0.0

1.6

—

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

258

0.63

0.97

1.9

—

(3019198) Lymphocytes [#/volume] in Blood

454

1.44

0.94

7.6

8.2

2.10

2.09

e9/l

0.03

410

(3004588) Protein electrophoresis panel - Serum or Plasma

2.07

0.88

1.2

2.3

—

(1761868) Lipid panel - Serum or Plasma

231

0.63

0.88

1.6

2.1

—

(3006315) Basophils [#/volume] in Blood

439

1.41

0.86

7.8

8.3

0.03

0.04

e9/l

0.51

385

(3001604) Monocytes [#/volume] in Blood

440

1.40

0.84

7.8

8.3

0.54

0.56

e9/l

0.34

387

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

315

1.40

0.82

3.2

2.7

—

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

0.00

0.80

0.0

2.3

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.80

0.0

1.1

—

(3026782) Osmolality of Urine

153

1.48

0.75

2.4

2.7

598.19

590.30

mosm/kgh2o

0.05

121

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

2.05

0.74

1.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

2.05

0.74

1.2

1.3

—

(3022145) Colonoscopy Study observation

1.64

0.73

1.2

1.5

—

(3044889) 12 lead EKG panel

428

1.36

0.72

3.8

2.9

—

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

1.97

0.71

1.0

1.2

—

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

1.97

0.71

1.0

1.2

—

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

1.76

0.71

1.1

1.7

—

(40761511) CBC panel - Blood by Automated count

820

1.72

0.70

14.0

9.7

—

(3003396) Base excess in Arterial blood by calculation

1.69

0.68

9.7

7.6

-0.41

1.85

mmol/l

—

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

1.83

0.67

1.2

1.4

—

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

1.83

0.67

1.2

1.4

—

(3020891) Body temperature

1.83

0.67

3.2

7.3

—

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

166

1.42

0.66

1.8

2.4

8.37

4.37

e6/l

0.55

141

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

1.76

0.64

2.8

8.0

55.36

55.57

—

(36660697) Celiac disease serology panel - Serum

1.52

0.63

1.4

1.1

—

(3021589) Normoblasts [#/volume] in Blood

415

1.32

0.62

9.1

10.3

0.00

e9/l

0.49

328

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

1.53

0.62

6.0

6.7

25.25

24.17

mmol/l

1.15

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

0.00

0.61

0.0

1.1

—

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

0.00

0.61

0.0

1.1

—

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

0.00

0.60

0.0

1.6

—

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

0.00

0.59

0.0

2.3

—

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

1.71

0.58

1.7

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

408

1.30

0.58

7.4

9.0

—

(3000494) Fungus identified in Specimen by Culture

1.53

0.57

1.2

1.9

—

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

673

0.77

0.51

3.4

3.6

—

(3023368) Bacteria identified in Blood by Culture

156

1.36

0.50

4.2

4.6

—

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

249

1.30

0.50

1.3

1.5

—

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

504

1.27

0.49

14.8

10.8

4.22

3.92

e9/l

0.32

436

(3022313) Gas panel - Capillary blood

1.43

0.46

6.3

6.7

—

(3013512) EKG study

131

1.36

0.46

2.9

3.7

—

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

1.43

0.46

2.7

16.4

1.05

1.06

mg/l

—

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

1.48

0.43

1.3

1.9

—

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

1.59

0.43

1.6

1.3

—

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

124

1.35

0.42

1.5

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

2.8

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.41

0.0

1.2

—

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

0.00

0.41

0.0

5.9

—

99.07

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.41

0.0

4.8

—

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

1.36

0.41

4.4

1.9

8.22

12.22

nmol/l

—

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

0.00

0.41

0.0

1.2

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.41

0.0

3.7

—

56.50

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.41

0.0

1.5

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

0.41

0.0

3.6

—

3.86

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.6

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

0.40

0.0

4.1

—

14.17

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.40

0.0

1.1

—

(40758558) Short blood count panel - Blood

256

1.25

0.40

8.4

7.5

—

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

1.40

0.40

5.4

6.7

—

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

1.45

0.40

1.2

1.1

1.56

4.04

u/ml

—

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

0.00

0.39

0.0

2.1

—

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

0.00

0.39

0.0

2.3

—

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

0.00

0.39

0.0

2.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

507

1.20

0.34

3.1

3.9

—

(3012516) Albumin [Mass/volume] in Urine

148

1.27

0.32

2.9

3.2

82.38

102.36

mg/l

0.11

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

102

1.32

0.32

1.4

2.1

—

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

1.37

0.31

1.3

1.9

—

(3002582) Erythrocytes [#/volume] in Urine

245

1.20

0.29

2.7

3.2

35.08

16.21

e6/l

0.49

188

(3002256) Pathology report gross observation

1.25

0.28

1.1

1.3

—

(3000492) Spirometry study

0.65

0.27

2.0

1.4

—

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

190

0.81

0.26

6.3

3.3

0.00

0.02

estimate

—

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

133

1.24

0.26

2.4

3.1

1.20

2.39

e6/l

—

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

1.24

0.26

1.1

—

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

171

1.21

0.26

1.4

1.6

—

(3019060) Gas panel - Arterial blood

1.37

0.24

1.2

4.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

134

0.80

0.22

1.5

1.8

—

(3020682) Albumin/Creatinine [Ratio] in Urine

155

1.20

0.22

3.5

3.8

14.54

12.41

mg/mmol

0.07

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

0.00

0.21

0.0

2.5

—

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

0.00

0.21

0.0

1.1

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.8

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.0

—

208.36

—

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

0.00

0.21

0.0

1.8

—

(3040359) Human coronavirus NL63 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

—

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

0.00

0.21

0.0

3.9

—

14.66

—

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

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

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.8

—

1151.90

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.21

0.0

1.1

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.5

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.2

—

(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

—

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

0.00

0.21

0.0

2.0

—

(3024522) Salmonella 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

—

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

0.00

0.21

0.0

1.2

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

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

0.00

0.20

0.0

2.4

—

(40763324) Parainfluenza virus 1 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.20

0.0

2.1

—

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

0.00

0.20

0.0

1.9

—

(40763470) Parainfluenza virus 4 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.20

0.0

2.1

—

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

0.00

0.20

0.0

1.9

—

(3002385) Erythrocyte distribution width [Ratio]

734

1.18

0.20

21.6

15.0

14.50

13.90

0.48

725

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

264

1.14

0.18

3.8

3.5

—

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

120

1.20

0.17

2.8

4.4

19.12

22.66

—

(3015736) pH of Urine

295

0.88

0.17

3.9

3.1

—

6.21

—

(21494755) Public health laboratory ask at order entry panel

0.79

0.15

1.3

—

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

141

1.16

0.15

2.1

3.1

0.92

0.77

e6/l

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

0.82

0.14

2.1

2.2

411.38

353.87

nmol/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

199

0.88

0.13

1.8

2.7

—

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

619

1.10

0.12

12.7

9.4

96.01

93.30

ml/min/173m2

0.23

462

(3018095) Leukocytes [#/volume] in Urine

281

1.10

0.11

3.5

3.8

16.69

33.93

e6/l

0.79

196

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

222

1.11

0.11

2.5

3.3

0.29

0.39

e6/l

0.28

165

(36304419) Bacteria [Presence] in Urine

223

1.10

0.10

2.5

3.1

—

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

263

1.09

0.10

1.7

1.5

2.25

1.31

u/ml

—

(40761535) Cells panel - Urine sediment

1.04

0.09

6.8

3.6

—

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

1.04

0.09

2.6

3.1

—

(3017732) Neutrophils [#/volume] in Blood

1.08

0.09

1.3

2.3

4.31

4.93

e9/l

—

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

276

0.92

0.09

4.3

3.2

—

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

1.06

0.08

1.0

1.4

—

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

196

1.09

0.08

3.4

2.9

292.50

22.91

ng/l

0.51

112

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

1.05

0.07

1.6

6.3

8.56

8.13

umol/l

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

647

1.07

0.06

4.1

3.5

5.90

5.74

mmol/l

0.24

591

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

218

1.07

0.06

1.5

2.1

—

(40768804) Tissue Pathology biopsy report

249

1.06

0.04

2.0

1.9

—

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

180

1.07

0.04

4.8

3.3

—

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

361

1.04

0.03

4.2

4.6

0.00

estimate

—

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

127

0.94

0.02

1.5

1.4

—

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

1.06

0.00

2.7

2.9

2.53

2.44

mmol/l

—

(3026008) Bacteria identified in Urine by Culture

184

0.97

0.00

2.1

2.6

—

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

364

0.98

0.00

3.6

3.2

0.00

estimate

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

15.6

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.2

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.7

—

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

0.00

0.0

1.0

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

3.0

—

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

0.00

0.0

1.9

—

3.21

—

(3028772) Osteocalcin [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

29141.00

—

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

0.00

0.0

1.9

—

(3019420) Tryptase [Mass/volume] in Serum or Plasma

0.00

0.0

1.3

—

7.29

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

2.5

—

13.13

—

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

0.00

0.0

2.0

—

58.40

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.1

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

0.0

51.4

—

7.13

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3006922) Hepatitis E virus Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

0.37

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.0

2.0

—

(3036180) Methadone [Presence] in Urine

0.00

0.0

2.2

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

0.0

1.1

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.8

—

(3016273) Islet cell 512 Ab [Units/volume] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

15.0

—

10.42

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

3.2

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

3.1

—

92.47

—

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

0.00

0.0

1.4

—

248.60

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.1

—

(3022670) pH of Venous cord blood

0.00

0.0

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

6.6

—

197.14

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

2.92

—

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

0.00

0.0

2.1

—

(3015183) Erythrocyte sedimentation rate

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

—

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

0.00

0.0

1.0

—

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

0.00

0.0

4.4

—

(3012565) Volume of 24 hour Urine

0.00

0.0

1.6

—

2090.00

—

(3024932) HLA-DR beta [Type]

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.8

—

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

260

1.00

-0.00

1.7

1.6

2.00

1.96

g/l

0.05

144

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

3.4

—

25.10

—

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

0.00

-0.00

0.0

1.8

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

-0.00

0.0

1.6

—

13.16

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.1

—

(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

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.00

-0.00

1.5

1.3

—

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

0.89

-0.00

1.2

1.9

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

(3024471) HLA-A [Type]

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.5

—

(3009550) Parvovirus B19 IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

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

1.00

-0.00

1.5

2.2

18.17

27.54

u/l

—

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