Reduction defects of upper limb

Q17_REDUCT_DEFECTS_UPPER_LIMB

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q71 Cause of death: ICD-10 — Q71 2 out of 7 registries used, show all original rules.	92
4. Check minimum number of events None	92
5. Include endpoints None	92
6. Filter based on genotype QC (FinnGen only)	92

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	92	50	42
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	22.43	19.08	26.42

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

Matched cohort

Matched cases
85: Matched controls
851

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q71.9

ICD-10 Finland

Reduction defect of upper limb, unspecified

+∞

20.7

Q71.88

ICD-10 Finland

Other reduction defects of upper limb(s)

+∞

18.4

Q71.81

ICD-10 Finland

Congenital reduction malformation of thumb

+∞

11.7

Q71.3

ICD-10 Finland

Congenital absence of hand and finger(s)

+∞

11.7

Q71.4

ICD-10 Finland

Longitudinal reduction defect of radius

+∞

9.5

Q71.2

ICD-10 Finland

Congenital absence of both forearm and hand

+∞

8.5

Q71.80

ICD-10 Finland

Congenital reduction malformation of finger (s)

+∞

8.5

ND2AA

NOMESCO Finland

Hand and fingers X-ray examination

8.5

8.3

XF400

NOMESCO Finland

ECG with 12 standard connections

4.5

7.4

NC2AA

NOMESCO Finland

Forearm X-ray examination

33.1

7.3

Q71.0

ICD-10 Finland

Congenital complete absence of upper limb(s)

+∞

6.3

NDT20

NOMESCO Finland

Correction of complicated handanomaly

+∞

6.3

R4110

NOMESCO Finland

Physiotherapy

3.4

6.3

162

LabWAS

↥

(ID) Name

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

154

2.41

3.53

2.3

2.7

—

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

314

2.02

2.75

7.4

10.2

1.2

mmol/l

0.32

278

(3000764) Benzodiazepines [Presence] in Urine

0.00

2.74

0.0

1.4

—

(3027008) Opiates [Presence] in Urine

0.00

2.73

0.0

1.4

—

(3028300) Cannabinoids [Presence] in Urine

0.00

2.73

0.0

1.4

—

(3027944) Amphetamines [Presence] in Urine

0.00

2.73

0.0

1.4

—

(3016879) Cocaine [Presence] in Urine

0.00

2.53

0.0

1.4

—

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

2.53

2.28

8.9

12.3

1.2

1.4

mmol/l

0.58

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

111

2.16

2.24

2.7

2.9

825.4

413.8

ng/l

0.37

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

0.00

2.13

0.0

1.5

—

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

196

1.88

2.01

1.7

1.9

79.5

92.6

pmol/l

1.42

108

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.91

1.99

1.8

1.2

—

(3000991) Gas panel - Venous blood

2.14

1.97

8.0

11.3

—

(3044640) Blood type and Crossmatch panel - Blood

198

1.85

1.94

3.3

2.6

—

(3032080) INR in Blood by Coagulation assay

210

1.80

1.83

6.6

4.9

1.2

1.1

inr

—

(3052851) Hemolysis interference index of Serum or Plasma

3.07

1.76

3.7

3.5

—

(3011288) Drugs identified in Urine by Screen method

0.00

1.76

0.0

1.8

—

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

107

1.98

1.71

2.1

7.6

0.9

0.8

mmol/l

1.33

101

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

147

1.86

1.69

2.3

3.3

2.0

mg/l

0.02

120

(3014007) Fractional oxyhemoglobin in Arterial blood

2.64

1.64

11.9

10.6

94.6

95.6

—

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

3.71

1.63

1.6

1.4

9.8

10.1

mg/l

—

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

2.83

1.61

1.3

1.4

—

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

2.56

1.58

3.9

9.2

223.0

179.5

—

(3042936) Bacteria identified in Isolate by Culture

1.99

1.53

1.9

2.5

—

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

175

0.46

1.49

1.8

2.5

—

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

160

0.45

1.42

1.8

2.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.88

1.39

1.5

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

170

0.48

1.36

1.3

1.7

—

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

255

0.55

1.35

2.0

1.9

—

(3012544) pH of Venous blood

100

1.86

1.35

3.5

11.7

—

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

2.22

1.33

1.2

1.8

—

(3025941) Bacteria identified in Stool by Culture

2.48

1.33

1.4

1.3

—

(40768797) Stomach Pathology biopsy report

2.00

1.32

1.3

—

(3013707) Erythrocyte sedimentation rate by Westergren method

527

1.62

1.31

3.6

4.7

9.4

9.7

mm/h

0.07

491

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.34

1.28

2.6

11.7

1.3

1.2

—

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

284

1.58

1.27

4.5

2.9

64.6

71.5

nmol/l

0.84

259

(40768443) Skin Pathology biopsy report

2.40

1.20

1.0

1.2

—

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

0.00

1.19

0.0

1.6

—

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

0.00

1.19

0.0

1.6

—

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

0.00

1.19

0.0

1.6

—

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

0.00

1.19

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

1.6

—

(1761868) Lipid panel - Serum or Plasma

223

0.56

1.16

1.6

2.1

—

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

761

1.93

1.11

12.8

12.6

28.5

24.3

mg/l

0.50

539

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

2.11

1.08

2.1

3.9

4.4

5.1

pmol/l

—

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

2.34

1.04

1.2

1.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.99

0.0

1.6

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.99

0.0

1.5

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.99

0.0

1.5

—

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

0.00

0.97

0.0

1.6

—

(3026782) Osmolality of Urine

145

1.58

0.96

2.4

2.5

598.2

605.5

mosm/kgh2o

0.04

114

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

103

1.67

0.95

10.3

11.3

25.4

24.8

mmol/l

0.40

103

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

1.81

0.83

1.4

—

(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

—

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

160

1.49

0.80

1.8

2.4

8.4

4.5

e6/l

0.54

134

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

100

1.60

0.79

5.4

7.1

5.3

5.0

kpa

1.33

(3022145) Colonoscopy Study observation

1.67

0.75

1.2

1.5

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

2.06

0.74

1.2

1.3

—

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

2.06

0.74

1.0

1.2

—

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

408

1.37

0.74

5.6

5.4

6.3

6.2

mmol/l

0.27

370

(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

—

(3013115) Eosinophils [#/volume] in Blood

440

1.36

0.70

8.6

9.2

0.2

e9/l

1.09

392

(40761511) CBC panel - Blood by Automated count

794

1.67

0.70

14.4

9.8

—

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

654

0.73

0.69

3.4

3.7

—

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

1.90

0.69

2.8

8.5

55.4

57.1

—

(3020891) Body temperature

1.83

0.67

3.2

7.3

—

(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

—

(3023368) Bacteria identified in Blood by Culture

149

1.44

0.65

4.2

4.8

—

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

1.56

0.65

6.0

6.8

25.2

24.1

mmol/l

1.17

(3004588) Protein electrophoresis panel - Serum or Plasma

1.76

0.65

1.2

2.4

—

(42870588) Differential panel, method unspecified - Blood

298

1.34

0.63

7.3

8.7

—

(3000494) Fungus identified in Specimen by Culture

1.57

0.63

1.2

1.9

—

(3019198) Lymphocytes [#/volume] in Blood

446

1.32

0.61

7.9

8.2

2.1

e9/l

0.04

402

(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

—

(3009542) Hematocrit [Volume Fraction] of Blood

750

1.51

0.60

19.2

13.8

38.6

40.0

0.72

639

(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

—

(3013512) EKG study

125

1.44

0.59

2.9

3.6

—

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

1.71

0.58

1.7

1.4

—

(3003396) Base excess in Arterial blood by calculation

1.50

0.55

10.7

7.6

-0.3

1.8

mmol/l

—

(3006315) Basophils [#/volume] in Blood

431

1.29

0.54

8.2

8.3

0.0

e9/l

0.28

378

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

1.47

0.54

5.4

6.9

—

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

304

1.30

0.54

4.9

4.0

—

(3001604) Monocytes [#/volume] in Blood

432

1.29

0.53

8.2

0.5

0.6

e9/l

0.42

379

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

1.53

0.52

1.0

1.7

—

(3022313) Gas panel - Capillary blood

1.45

0.49

6.3

6.7

—

(40758558) Short blood count panel - Blood

251

1.29

0.48

8.4

7.6

—

(3044889) 12 lead EKG panel

417

1.26

0.46

3.8

2.9

—

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

1.50

0.46

1.3

1.9

—

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

1.43

0.46

2.7

16.4

1.1

mg/l

—

(3021589) Normoblasts [#/volume] in Blood

409

1.25

0.44

9.4

10.3

0.0

e9/l

0.49

323

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

1.59

0.43

1.6

1.3

—

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

1.39

0.42

4.4

1.8

7.5

12.0

nmol/l

—

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

0.00

0.41

0.0

5.9

—

99.1

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.1

—

(3035933) Granulocytes/100 leukocytes in Blood

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

—

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

0.00

0.41

0.0

3.6

—

3.9

—

(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

—

56.5

—

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

0.00

0.41

0.0

1.6

—

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

0.00

0.41

0.0

1.1

—

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

0.00

0.40

0.0

4.1

—

14.2

—

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

0.00

0.39

0.0

2.3

—

(3002582) Erythrocytes [#/volume] in Urine

238

1.25

0.39

2.7

3.2

35.1

14.4

e6/l

0.56

183

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

128

1.30

0.35

2.4

3.2

1.2

2.5

e6/l

—

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

1.39

0.34

1.3

2.0

—

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

120

1.30

0.32

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

193

0.79

0.30

1.9

2.7

—

(3002256) Pathology report gross observation

1.25

0.28

1.1

1.3

—

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

493

1.18

0.28

15.6

10.9

4.2

3.9

e9/l

0.26

427

(3000492) Spirometry study

0.68

0.27

2.0

1.4

—

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

114

1.27

0.27

2.8

4.5

19.1

23.0

—

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

257

1.19

0.26

3.9

3.5

—

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

1.26

0.26

1.1

—

(3012516) Albumin [Mass/volume] in Urine

143

1.23

0.25

3.1

97.7

105.8

mg/l

—

(21494755) Public health laboratory ask at order entry panel

0.70

0.25

1.3

—

(36660697) Celiac disease serology panel - Serum

1.27

0.24

1.4

1.1

—

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

188

0.82

0.24

6.2

3.4

0.0

estimate

—

(3019060) Gas panel - Arterial blood

1.37

0.24

1.2

4.1

—

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

270

0.85

0.23

4.5

3.2

—

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

1.26

0.22

1.3

2.1

—

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

136

1.21

0.22

2.1

3.2

0.9

0.8

e6/l

—

(4268621)

0.00

0.21

0.0

2.5

—

(3038546) Human coronavirus OC43 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

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

3.9

—

14.7

—

(4094501)

0.00

0.21

0.0

1.2

—

(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

—

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

0.00

0.21

0.0

1.5

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.21

0.0

1.2

—

(3004616) Nuclear Ab [Presence] in Serum

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

—

1151.9

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

2.0

—

(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

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

(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

—

(3018095) Leukocytes [#/volume] in Urine

272

1.15

0.20

3.5

3.8

16.7

33.5

e6/l

0.75

191

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

0.00

0.20

0.0

1.9

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.20

0.0

5.1

—

(44790047)

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

—

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

0.00

0.20

0.0

2.4

—

(44790049)

0.00

0.20

0.0

2.1

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.20

0.0

1.6

—

(44790048)

0.00

0.20

0.0

2.1

—

(44806118)

0.00

0.20

0.0

2.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

491

1.14

0.19

3.3

3.9

—

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

245

1.14

0.18

1.3

1.5

—

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

216

1.15

0.18

2.5

3.3

0.3

0.4

e6/l

0.29

161

(36304419) Bacteria [Presence] in Urine

216

1.15

0.18

2.5

3.1

—

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

0.74

0.17

1.2

1.9

—

(3020682) Albumin/Creatinine [Ratio] in Urine

149

1.17

0.17

3.6

3.8

16.0

12.8

mg/mmol

—

(3019832) Treponema pallidum Ab [Presence] in Serum

129

0.83

0.16

1.5

1.8

—

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

587

1.12

0.14

12.7

9.5

96.5

93.5

ml/min/173m2

0.24

433

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

0.82

0.14

2.1

2.2

411.4

353.9

nmol/l

—

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

191

1.13

0.13

3.4

2.8

292.5

23.7

ng/l

0.51

106

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

174

1.12

0.10

4.8

3.3

—

(40761535) Cells panel - Urine sediment

1.07

0.09

7.2

3.4

—

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

165

1.11

0.09

1.4

1.7

—

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

1.04

0.09

2.6

3.1

—

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

1.08

0.09

1.0

1.4

—

(3002179) Metamyelocytes/100 leukocytes in Blood

1.10

0.08

2.1

4.6

—

0.4

—

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

255

0.92

0.08

1.8

1.6

2.1

1.9

g/l

0.15

141

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

625

1.08

0.08

3.9

3.6

5.9

5.7

mmol/l

0.20

571

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

353

0.94

0.06

3.7

3.2

0.0

estimate

—

(40768804) Tissue Pathology biopsy report

240

1.06

0.04

1.7

1.9

—

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

260

0.95

0.04

1.8

1.5

2.3

1.3

u/ml

—

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

1.10

0.03

2.7

2.9

2.5

2.4

mmol/l

—

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

118

0.92

0.03

1.5

1.4

—

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

212

0.99

0.00

1.5

2.1

—

(3026008) Bacteria identified in Urine by Culture

177

1.02

0.00

2.1

2.6

—

(40760892) CBC W Ordered Manual Differential panel - Blood

177

1.02

0.00

4.4

5.8

—

(3002385) Erythrocyte distribution width [Ratio]

706

1.02

0.00

22.4

15.0

13.7

13.4

1.16

695

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

15.8

—

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

0.00

0.0

1.1

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

58.4

—

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

0.00

0.0

2.8

—

12.5

—

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

0.00

0.0

1.1

—

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

0.00

0.0

3.2

—

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

0.00

0.0

1.8

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3015183) Erythrocyte sedimentation rate

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

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(4211845)

0.00

0.0

1.4

—

(3012565) Volume of 24 hour Urine

0.00

0.0

1.6

—

2090.0

—

(3005156) Respiratory syncytial virus A RNA [Presence] in 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

—

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

0.00

0.0

1.8

—

(3024932) HLA-DR beta [Type]

0.00

0.0

1.2

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.0

2.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

(3022670) pH of Venous cord blood

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

350

1.00

0.00

4.3

4.6

0.0

estimate

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

(4198724)

0.00

0.0

2.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.9

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

3.1

—

92.5

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.6

—

13.2

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.2

—

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

0.00

0.0

6.6

—

197.1

—

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

0.92

0.00

1.5

6.3

9.1

8.1

umol/l

—

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

1.00

0.00

1.5

2.2

18.2

27.5

u/l

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.3

—

7.3

—

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

0.00

0.0

1.0

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.7

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

3.0

—

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

0.00

0.0

1.0

—

(3024471) HLA-A [Type]

0.00

0.0

1.0

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.01

0.00

1.5

1.3

—

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

0.00

0.0

4.4

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

3.0

—

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

0.00

0.0

3.4

—

25.1

—

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

0.00

0.0

1.0

—

0.4

—

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

0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

15.0

—

10.4

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.8

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

-0.00

0.0

51.4

—

7.1

—

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

0.00

-0.00

0.0

1.9

—

3.2

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.1

—

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints