Other congenital musculoskeletal deformities

Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI

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 — Q68 Cause of death: ICD-10 — Q68 2 out of 7 registries used, show all original rules.	122
4. Check minimum number of events None	122
5. Include endpoints None	122
6. Filter based on genotype QC (FinnGen only)	116

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: Aliae deformitates musculosceletales congenitae

NAME	Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI
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	Q68
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q68
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 Other congenital musculoskeletal deformities 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	2341	1201	1140
Only index persons	1848	977	871
Unadjusted period prevalence (%)
Whole population	0.03	0.03	0.03
Only index persons	0.03	0.04	0.03
Median age at first event (years)
Whole population	-	5.95	2.58
Only index persons	8.22	9.78	6.48

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	116	84	32
Unadjusted period prevalence (%)	0.03	0.03	0.01
Median age at first event (years)	15.50	16.28	13.44

-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
122: Matched controls
1220

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q68.8

ICD-10 Finland

Other specified congenital musculoskeletal deformities

+∞

50.6

Q68.1

ICD-10 Finland

Congenital deformity of hand

+∞

37.4

Q68.0

ICD-10 Finland

Congenital deformity of sternocleidomastoid muscle

+∞

24.8

Q68.2

ICD-10 Finland

Congenital deformity of knee

+∞

17.1

NAL22

NOMESCO Finland

Myotomy or tenotomy of spine or neck

85.0

7.5

Q74.3

ICD-10 Finland

Arthrogryposis multiplex congenita

+∞

7.4

ZXE10

NOMESCO Finland

More than one and less than three hours

2.8

6.6

225

Q74.88

ICD-10 Finland

Other specified congenital malformations of limb(s)

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

2.94

3.95

8.3

16.3

24.27

24.48

mmol/l

0.13

(3004119) Hemoglobin [Mass/volume] in Venous blood

4.47

3.82

4.3

14.2

125.42

131.93

g/l

0.54

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

2.84

3.57

2.6

11.6

23.39

23.53

mmol/l

0.08

(3000991) Gas panel - Venous blood

2.59

3.17

6.6

11.6

—

(3044889) 12 lead EKG panel

493

1.86

2.83

3.2

2.4

—

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

483

1.80

2.58

5.6

5.9

5.73

6.05

mmol/l

1.17

426

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

2.57

2.58

7.2

12.8

106.13

104.89

mmol/l

1.23

(3026008) Bacteria identified in Urine by Culture

269

1.86

2.54

2.8

2.6

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

3.81

2.41

5.9

4.4

27.11

23.69

mmol/l

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

334

1.78

2.40

9.2

10.3

1.21

1.23

mmol/l

0.79

315

(3021901) Oxygen saturation in Capillary blood

4.30

2.39

2.4

16.4

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

3.65

2.31

4.1

16.2

0.87

0.67

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

3.27

2.28

9.8

27.9

—

(3036180) Methadone [Presence] in Urine

5.74

2.23

2.0

1.2

—

(3018418) pH of Serum or Plasma

197

1.85

2.15

4.3

3.4

7.39

7.41

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

3.35

2.13

4.1

15.1

1.00

1.57

—

(3026782) Osmolality of Urine

149

1.85

3.5

2.8

542.28

569.65

mosm/kgh2o

0.19

126

(3003458) Phosphate [Moles/volume] in Serum or Plasma

103

2.00

1.84

13.0

11.9

1.21

mmol/l

0.02

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

112

1.94

1.78

3.7

2.8

74.08

384.52

ng/l

0.75

(3037467) Urinalysis macro (dipstick) panel - Urine

659

1.62

1.73

4.8

4.4

—

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

137

1.84

1.70

2.0

3.6

4.54

4.08

e6/l

0.09

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

315

1.62

1.70

4.3

3.6

24.64

31.65

u/l

1.79

302

(3022217) INR in Platelet poor plasma by Coagulation assay

247

1.65

1.64

7.7

7.3

1.09

inr

0.01

(3020682) Albumin/Creatinine [Ratio] in Urine

124

1.84

1.60

3.3

4.0

0.91

27.44

mg/mmol

1.89

(3007853) Bacteria identified in Skin by Aerobe culture

124

1.84

1.60

1.5

1.6

—

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

430

1.56

1.60

2.7

2.8

—

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

1.92

1.52

1.4

1.3

—

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

142

1.76

1.52

2.0

3.5

0.65

0.76

e6/l

0.07

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

212

1.62

1.42

1.8

1.5

—

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

2.69

1.38

7.2

5.0

53.62

64.98

—

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

223

1.59

1.36

3.4

3.8

0.17

0.18

e6/l

0.05

166

(3019150) Specific gravity of Urine by Refractometry

215

1.59

1.34

4.3

3.7

1.02

kg/l

—

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

117

1.74

1.27

2.0

2.1

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

390

1.48

1.26

4.8

6.6

12.08

12.67

umol/l

0.06

364

(3023368) Bacteria identified in Blood by Culture

159

1.63

1.24

3.5

4.0

—

(4034850) Laboratory test

2.70

1.23

14.2

11.1

—

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

1.90

1.20

1.6

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.37

1.20

10.2

14.4

1.28

1.41

—

(3052851) Hemolysis interference index of Serum or Plasma

2.37

1.20

1.5

2.8

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.37

1.20

10.2

14.4

0.57

0.72

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

2.37

1.20

10.5

13.7

22.83

24.45

mmol/l

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.37

1.20

10.2

14.4

96.12

94.99

—

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

0.00

1.18

0.0

2.5

—

(36304419) Bacteria [Presence] in Urine

232

1.51

1.14

3.3

3.8

—

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

621

1.44

1.13

8.4

6.6

83.21

82.27

u/l

0.05

582

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

181

1.55

1.10

2.2

1.9

—

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

2.44

1.10

1.2

1.6

—

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

225

1.51

1.09

4.6

4.2

0.00

0.01

estimate

—

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

335

1.44

1.07

5.1

3.7

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

1.73

0.99

9.1

11.3

1.20

1.00

mmol/l

—

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

0.00

0.99

0.0

2.5

—

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

284

1.43

0.99

4.4

4.0

—

(3002582) Erythrocytes [#/volume] in Urine

257

1.45

0.98

3.2

4.0

177.39

52.80

e6/l

0.33

198

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

213

1.47

0.96

2.6

2.0

—

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

213

1.47

0.96

2.3

2.4

—

(40761511) CBC panel - Blood by Automated count

113

1065

1.83

0.96

12.7

8.5

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

1.94

0.95

1.4

1.3

—

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

314

0.67

0.93

1.9

1.4

1.76

1.93

g/l

0.27

192

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

458

1.37

0.91

4.6

3.8

0.00

estimate

—

(3012516) Albumin [Mass/volume] in Urine

121

1.57

0.89

2.8

3.4

72.90

191.99

mg/l

—

(3022313) Gas panel - Capillary blood

1.74

0.89

9.6

11.6

—

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

164

1.50

0.88

2.9

3.2

4.36

6.70

e6/l

1.06

146

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

450

1.36

0.88

6.3

5.2

0.00

estimate

—

(3021589) Normoblasts [#/volume] in Blood

461

1.35

0.86

8.2

8.7

0.00

e9/l

-0.00

359

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

1.98

0.85

2.2

1.2

—

(3044640) Blood type and Crossmatch panel - Blood

282

1.39

0.85

2.6

2.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

473

1.34

0.82

6.1

7.8

—

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

1.66

0.82

1.4

1.8

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

107

1.57

0.81

2.6

2.7

2.68

2.60

g/l

0.19

101

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

1.86

0.80

1.0

1.3

—

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

457

1.33

0.77

4.6

3.7

0.00

estimate

-0.00

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

1.75

0.77

5.9

5.0

92.89

93.04

—

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

1.80

0.77

1.0

1.3

—

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

1.72

0.76

1.8

1.7

—

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

241

1.38

0.76

1.8

1.6

99.79

98.90

pmol/l

0.04

125

(3035637) Corticotropin [Mass/volume] in Plasma

2.13

0.75

1.6

1.9

—

(3022621) pH of Urine by Test strip

1.65

0.74

5.3

2.1

—

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

2.04

0.73

1.0

—

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

1.89

0.69

1.4

1.5

—

(3018095) Leukocytes [#/volume] in Urine

320

1.32

0.68

3.4

4.5

95.07

48.98

e6/l

0.22

201

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

1.67

0.68

2.0

1.3

—

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

1.67

0.67

2.5

3.0

—

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

1.82

0.67

1.4

1.6

—

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

211

1.36

0.64

2.9

2.5

296.93

20.95

ng/l

0.47

(3019060) Gas panel - Arterial blood

1.75

0.64

8.2

19.6

—

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

1.75

0.64

1.2

1.1

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

1.69

0.62

1.2

1.1

—

(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum

0.00

0.61

0.0

1.1

—

13.17

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.58

0.61

1.0

1.1

—

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

1.52

0.61

2.2

1.4

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

1.53

0.59

1.3

1.7

—

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

0.00

0.59

0.0

1.0

—

(3000330) Specific gravity of Urine by Test strip

1.70

0.57

2.8

1.9

—

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

1.65

0.56

1.7

1.1

—

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

110

1.41

0.51

1.6

1.4

—

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

1.54

0.51

1.4

1.5

—

(21494755) Public health laboratory ask at order entry panel

143

0.67

0.51

1.1

1.2

—

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

1.45

0.50

2.2

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

261

1.25

0.44

4.3

3.4

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

1.47

0.43

2.8

2.0

—

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

1.47

0.43

10.5

9.5

24.40

24.13

mmol/l

—

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

215

1.27

0.43

4.0

3.5

—

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

1.54

0.42

1.0

1.3

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

0.41

0.0

1.4

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.2

—

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

0.00

0.40

0.0

1.2

—

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

0.00

0.40

0.0

1.5

—

(1761868) Lipid panel - Serum or Plasma

323

1.21

0.38

2.6

2.0

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

1.49

0.36

3.2

2.2

1.09

1.26

ug/l

—

(3011288) Drugs identified in Urine by Screen method

0.66

0.34

3.2

1.9

—

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

805

1.18

0.33

8.9

8.0

100.87

100.78

ml/min/173m2

0.01

615

(40758558) Short blood count panel - Blood

251

1.20

0.32

5.6

9.2

—

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

0.71

0.32

2.0

1.5

—

(3013512) EKG study

148

1.25

0.31

3.9

2.8

—

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

1.31

0.29

3.9

5.5

—

(3007461) Platelets [#/volume] in Blood

117

1149

1.45

0.27

19.6

15.6

266.65

263.82

e9/l

0.18

117

1125

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.69

0.27

1.8

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.69

0.27

1.8

1.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

117

1148

1.47

0.27

19.6

15.9

39.82

40.27

0.41

111

1096

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.67

0.27

1.8

1.5

—

(3023511) Choriogonadotropin [Units/volume] in Urine

1.20

0.25

1.9

1.3

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

1.29

0.25

1.5

1.4

—

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

104

1010

1.20

0.24

13.7

10.7

16.99

19.80

mg/l

0.56

733

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

343

0.87

0.22

2.5

2.3

—

(40768797) Stomach Pathology biopsy report

104

0.75

0.22

2.1

1.2

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.21

0.0

1.2

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.0

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

134.50

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.0

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

6.2

—

7.29

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.3

—

13.12

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

34.95

—

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

0.00

0.21

0.0

1.0

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.20

0.0

16.3

—

922.86

—

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

0.00

0.20

0.0

23.4

—

1924.43

—

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

128

1.20

0.19

2.3

1.7

—

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

1.22

0.18

1.7

1.8

8.59

13.88

nmol/l

—

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

162

0.85

0.17

1.2

1.3

11.94

7.67

u/ml

—

(3028026) IgM [Mass/volume] in Serum or Plasma

0.72

0.17

3.2

1.7

1.36

1.10

g/l

—

(3010813) Leukocytes [#/volume] in Blood

117

1151

1.40

0.17

19.4

15.6

6.88

6.75

e9/l

0.27

117

1125

(3000963) Hemoglobin [Mass/volume] in Blood

117

1151

1.40

0.17

19.5

15.7

134.36

135.44

g/l

0.41

117

1141

(3026361) Erythrocytes [#/volume] in Blood

117

1150

1.42

0.17

19.3

15.6

4.56

4.57

e12/l

0.04

117

1126

(3024731) MCV [Entitic volume]

117

1150

1.42

0.17

19.4

15.5

88.66

88.81

0.12

117

1140

(3035941) MCH [Entitic mass]

117

1150

1.42

0.17

19.4

15.5

29.60

29.76

0.41

117

1139

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

169

1.15

0.15

1.7

1.5

—

(3000492) Spirometry study

0.80

0.15

1.9

1.2

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

1.21

0.14

2.3

1.7

—

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

981

0.90

0.13

4.5

4.0

—

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

340

0.92

0.11

1.4

0.51

1.81

u/ml

—

(40768804) Tissue Pathology biopsy report

340

1.08

0.11

1.8

—

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

197

0.90

0.10

1.7

1.6

—

(3023520) Reticulocytes [#/volume] in Blood

1.04

0.09

1.6

5.3

104.22

68.24

e9/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

226

0.91

0.09

1.6

1.7

—

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

0.78

0.08

1.6

1.7

—

(3025941) Bacteria identified in Stool by Culture

1.08

0.08

1.4

1.2

—

(3022145) Colonoscopy Study observation

1.07

0.07

1.6

1.4

—

(3002256) Pathology report gross observation

108

1.12

0.07

1.0

1.2

—

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

0.82

0.07

2.0

1.4

—

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

0.82

0.07

2.0

1.4

—

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

0.82

0.07

2.0

1.4

—

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

0.82

0.07

2.0

1.4

—

(3000494) Fungus identified in Specimen by Culture

111

0.89

0.06

1.3

1.6

—

(3042936) Bacteria identified in Isolate by Culture

119

1.10

0.06

1.9

2.4

—

(3048689) Calprotectin [Mass/mass] in Stool

198

1.07

0.06

3.5

2.6

100.20

77.79

ug/g

0.24

149

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

333

0.95

0.05

2.0

1.8

—

(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma

111

1.09

0.04

6.5

2.2

816.40

5063.31

u/l

—

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

391

0.96

0.04

2.4

1.8

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

116

1.04

0.00

1.7

1.5

—

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

111

0.99

0.00

1.3

1.5

—

(3016879) Cocaine [Presence] in Urine

111

0.99

0.00

1.8

1.5

—

(3027008) Opiates [Presence] in Urine

121

0.99

0.00

1.8

1.4

—

(3027944) Amphetamines [Presence] in Urine

121

0.99

0.00

1.8

1.4

—

(36660697) Celiac disease serology panel - Serum

137

1.02

0.00

1.4

1.1

—

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

173

0.98

0.00

1.5

1.3

114.80

21.97

iu/ml

—

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

363

0.99

0.00

1.8

1.7

—

(3019832) Treponema pallidum Ab [Presence] in Serum

285

1.02

0.00

2.2

1.8

—

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

413

0.99

0.00

2.7

2.2

—

(3000764) Benzodiazepines [Presence] in Urine

122

0.98

0.00

1.8

1.5

—

(3028300) Cannabinoids [Presence] in Urine

122

0.98

0.00

1.8

1.5

—

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

102

1015

1.03

0.00

11.6

8.4

23.08

25.32

u/l

1.07

102

983

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

374

0.98

0.00

2.5

2.4

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

-0.00

0.0

2.1

—

(3034860) Kappa light chains.free [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

31.20

—

(3031309) Prolactin monomeric/Prolactin.total in Serum or Plasma

0.00

-0.00

0.0

1.4

—

73.60

—

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

0.00

-0.00

0.0

1.0

—

0.00

—

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

0.00

-0.00

0.0

1.4

—

(3041082) Glomerular basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3023601) Vancomycin resistant enterococcus [Presence] in Specimen by Organism specific culture

0.00

-0.00

0.0

2.0

—

(3022670) pH of Venous cord blood

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.9

—

37762.50

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3045142) Bone marrow Pathology biopsy report

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

7.2

—

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

0.00

-0.00

0.0

5.1

—

25.89

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.3

—

66.17

—

(3005880) Parainfluenza virus 3 Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3013180) HIV 1 RNA [Units/volume] (viral load) in Serum or Plasma by Probe with amplification

0.00

-0.00

0.0

1.4

—

(3042733) HLA Ab [Presence] in Serum

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

1.0

—

0.00

—

(3021578) Parainfluenza virus 2 Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3028433) Virus identified in Specimen by Culture

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(40761847) Hazelnut recombinant (rCor a) 8 IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

0.01

—

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

0.93

-0.00

2.0

1.5

—

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

0.00

-0.00

0.0

2.0

—

920.40

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

-0.00

0.0

1.8

—

(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid

0.00

-0.00

0.0

1.7

—

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

0.92

-0.00

1.4

1.5

—

(40761536) Microorganisms panel - Urine sediment

0.97

-0.00

6.7

3.9

—

(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.4

—

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

0.94

-0.00

1.0

—

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.4

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

7.66

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

0.00

-0.00

0.0

1.0

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

2.88

—

(3022192) Triglyceride [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

2.6

—

(3024471) HLA-A [Type]

0.00

-0.00

0.0

1.0

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

3.74

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

7.2

—

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

0.00

-0.00

0.0

2.2

—

8.28

—

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

0.00

-0.00

0.0

2.3

—

1.56

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

40.20

—

(4200892) Spirometry reversibility

1.02

-0.00

1.3

1.4

—

(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.3

—

5.32

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

9.0

—

(3032868) Hemoglobin electrophoresis panel in Blood

0.00

-0.00

0.0

1.7

—

(3027300) Silver Birch IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

31.20

—

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

11.32

—

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

0.00

-0.00

0.0

1.3

—

(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing

0.00

-0.00

0.0

1.0

—

(3045209) Lutropin/Follitropin [Ratio] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

(37020300) Entamoeba histolytica DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

(3001186) Copper [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

20.26

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

2.6

—

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

0.00

-0.00

0.0

4.8

—

34.11

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

-0.00

0.0

1.2

—

(3047169) Lambda light chains.free [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

17.10

—

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

0.00

-0.00

0.0

1.0

—

(3040370) OLANZapine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

162.20

—

(21491979) Prolactin monomeric [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

423.20

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

83.22

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

1.11

—

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

0.00

-0.00

0.0

1.0

—

0.00

—

(3024932) HLA-DR beta [Type]

0.00

-0.00

0.0

1.2

—

(42868766) Dientamoeba fragilis DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3010464) Parainfluenza virus 1 Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3015183) Erythrocyte sedimentation rate

0.00

-0.00

0.0

1.4

—

(40768446) Kidney Pathology biopsy report

0.00

-0.00

0.0

3.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI.

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_OTHER_CONGEN_MUSCULOS_DEFORMITI – Other congenital musculoskeletal deformities

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

Other congenital musculoskeletal deformities

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