Other congenital musculoskeletal deformities

Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI

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 — Q68 Cause of death: ICD-10 — Q68 2 out of 7 registries used, show all original rules.	121
4. Check minimum number of events None	121
5. Include endpoints None	121
6. Filter based on genotype QC (FinnGen only)	121

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	121	86	35
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	15.16	15.89	13.38

-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
112: Matched controls
1119

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q68.8

ICD-10 Finland

Other specified congenital musculoskeletal deformities

+∞

41.2

Q68.1

ICD-10 Finland

Congenital deformity of hand

+∞

35.3

Q68.0

ICD-10 Finland

Congenital deformity of sternocleidomastoid muscle

+∞

24.9

Q68.2

ICD-10 Finland

Congenital deformity of knee

+∞

17.1

NAL22

NOMESCO Finland

Myotomy or tenotomy of spine or neck

+∞

8.4

Q74.88

ICD-10 Finland

Other specified congenital malformations of limb(s)

+∞

6.3

Q74.3

ICD-10 Finland

Arthrogryposis multiplex congenita

+∞

6.3

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

4.48

4.75

4.3

14.2

125.4

131.9

g/l

0.54

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

2.99

4.05

8.3

16.5

24.3

24.4

mmol/l

0.10

(3000991) Gas panel - Venous blood

2.60

3.18

6.6

11.6

—

(3044889) 12 lead EKG panel

487

1.84

2.74

3.2

2.4

—

(3026008) Bacteria identified in Urine by Culture

264

1.91

2.71

2.8

2.6

—

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

330

1.81

2.52

9.2

10.3

1.2

mmol/l

0.80

310

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

479

1.77

2.45

5.6

5.9

5.7

6.1

mmol/l

1.24

422

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

3.82

2.41

5.9

4.4

27.1

23.7

mmol/l

—

(3021901) Oxygen saturation in Capillary blood

4.30

2.40

2.4

16.4

—

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

3.27

2.28

9.8

27.9

—

(3018418) pH of Serum or Plasma

194

1.88

2.27

4.3

3.4

7.4

—

(4198724)

5.74

2.23

2.0

1.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

3.35

2.13

4.1

15.1

1.0

1.6

—

(3032080) INR in Blood by Coagulation assay

212

1.77

1.93

6.1

4.9

1.1

inr

0.15

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

103

2.00

1.84

13.0

11.9

1.2

mmol/l

0.02

(3037467) Urinalysis macro (dipstick) panel - Urine

655

1.65

1.82

4.8

4.4

—

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

312

1.64

1.78

4.3

3.6

24.6

31.7

u/l

1.81

299

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

112

1.94

1.78

3.7

2.8

74.1

384.5

ng/l

0.75

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

136

1.85

1.74

2.0

3.6

4.5

4.1

e6/l

0.08

(3007853) Bacteria identified in Skin by Aerobe culture

122

1.87

1.68

1.5

1.6

—

(3020682) Albumin/Creatinine [Ratio] in Urine

122

1.87

1.68

3.3

4.2

0.9

28.1

mg/mmol

1.89

(3026782) Osmolality of Urine

146

1.80

1.67

3.4

2.8

536.1

569.1

mosm/kgh2o

0.22

123

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

141

1.78

1.56

2.0

3.5

0.7

0.8

e6/l

0.08

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

358

1.56

1.55

11.2

10.5

1.2

mmol/l

0.74

325

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

428

1.52

1.45

4.0

4.4

—

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

212

1.62

1.42

1.8

1.5

—

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

221

1.61

1.41

3.4

3.8

0.2

e6/l

0.06

164

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

2.69

1.38

7.2

5.0

53.6

65.0

—

(3019150) Specific gravity of Urine by Refractometry

215

1.59

1.34

4.3

3.7

1.0

kg/l

—

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

387

1.50

1.33

4.8

6.6

12.1

12.6

umol/l

0.05

361

(3023368) Bacteria identified in Blood by Culture

158

1.65

1.27

3.5

4.0

—

(4034850)

2.70

1.23

14.2

11.1

—

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

1.79

1.21

1.3

—

(3022948) Iron [Moles/volume] in Serum or Plasma

119

1.71

1.20

2.4

2.6

13.6

14.1

umol/l

0.12

114

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

1.90

1.20

1.6

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.37

1.20

10.2

14.4

0.6

0.7

—

(3052851) Hemolysis interference index of Serum or Plasma

2.37

1.20

1.8

2.8

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.37

1.20

10.2

14.4

96.1

95.0

—

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

2.37

1.20

10.5

13.7

22.8

24.4

mmol/l

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.37

1.20

10.2

14.4

1.3

1.4

—

(36304419) Bacteria [Presence] in Urine

230

1.53

1.18

3.3

3.8

—

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

0.00

1.18

0.0

2.5

—

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

2.56

1.16

1.2

1.7

—

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

223

1.52

1.14

4.6

4.2

0.0

estimate

—

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

333

1.45

1.11

5.1

3.7

—

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

181

1.56

1.10

2.2

1.9

—

(3015736) pH of Urine

371

1.44

1.09

3.6

3.4

—

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

615

1.42

1.07

8.5

6.6

83.4

82.4

u/l

0.05

575

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

282

1.45

1.03

4.5

4.0

—

(3002582) Erythrocytes [#/volume] in Urine

255

1.46

1.02

3.2

4.0

177.4

53.3

e6/l

0.33

196

(42870588) Differential panel, method unspecified - Blood

329

1.42

1.01

4.8

8.0

—

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

117

1.63

1.01

2.1

—

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

1.73

0.99

9.1

11.3

1.2

1.0

mmol/l

—

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

0.00

0.99

0.0

2.5

—

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

2.00

0.99

1.4

1.3

—

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

454

1.39

0.97

4.6

3.8

0.0

estimate

—

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

213

1.48

0.97

2.6

2.0

—

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

213

1.48

0.97

2.3

2.4

—

(40761511) CBC panel - Blood by Automated count

112

1056

1.81

0.96

12.7

8.6

—

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

1.71

0.96

9.1

11.3

5.0

kpa

0.23

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

446

1.38

0.95

6.3

5.2

0.0

estimate

—

(3012516) Albumin [Mass/volume] in Urine

119

1.60

0.95

2.8

3.4

72.9

198.9

mg/l

—

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

313

0.67

0.91

1.9

1.4

1.8

1.9

g/l

0.28

191

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

163

1.51

0.91

2.9

3.3

4.4

6.8

e6/l

1.11

144

(3022313) Gas panel - Capillary blood

1.74

0.89

9.6

11.6

—

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

236

1.42

0.86

1.8

1.6

99.8

98.7

pmol/l

0.05

123

(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

—

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

452

1.35

0.85

4.1

3.7

0.0

estimate

—

(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

2.6

g/l

0.19

101

(3021589) Normoblasts [#/volume] in Blood

455

1.34

0.81

8.3

8.8

0.0

e9/l

0.00

354

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

1.86

0.80

1.0

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

213

1.41

0.78

4.9

4.8

—

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

1.75

0.77

5.9

5.0

92.9

93.0

—

(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

—

(3035637) Corticotropin [Mass/volume] in Plasma

2.13

0.75

1.6

1.9

—

(3022621) pH of Urine by Test strip

1.66

0.74

5.3

2.1

—

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

206

1.40

0.74

2.9

2.4

296.9

21.5

ng/l

0.46

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

2.04

0.73

1.0

—

(3018095) Leukocytes [#/volume] in Urine

317

1.34

0.73

3.4

4.5

95.1

49.5

e6/l

0.22

199

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

1.71

0.69

2.0

1.3

—

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

1.89

0.69

1.4

1.5

—

(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

—

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

1.75

0.64

1.2

1.1

—

(3019060) Gas panel - Arterial blood

1.75

0.64

8.2

19.6

—

(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

—

13.2

—

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

1.52

0.61

2.2

1.4

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.58

0.61

1.0

1.1

—

(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

1.42

0.52

1.6

1.4

—

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

1.54

0.51

1.4

1.5

—

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

1.45

0.50

2.2

1.5

—

(21494755) Public health laboratory ask at order entry panel

142

0.68

0.50

1.1

1.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

259

1.26

0.47

4.3

3.4

—

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

213

1.28

0.46

4.0

3.5

—

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

1.47

0.43

10.5

9.5

24.4

24.1

mmol/l

—

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

1.47

0.43

2.8

2.0

—

(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

—

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

0.00

0.41

0.0

1.2

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.41

0.0

1.3

—

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

1.36

0.41

3.9

5.1

—

(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

—

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

1.49

0.36

3.2

2.2

1.1

1.3

ug/l

—

(40758558) Short blood count panel - Blood

248

1.22

0.36

5.6

9.3

—

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

793

1.19

0.35

8.8

8.0

100.9

ml/min/173m2

0.00

603

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

104

1002

1.27

0.34

13.7

10.7

17.0

19.8

mg/l

0.56

729

(3011288) Drugs identified in Urine by Screen method

0.67

0.34

3.2

1.9

—

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

0.71

0.32

2.0

1.5

—

(1761868) Lipid panel - Serum or Plasma

320

1.18

0.30

2.4

2.0

—

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

1.31

0.27

1.5

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.69

0.27

1.8

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.69

0.27

1.8

1.4

—

(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

—

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

343

0.87

0.22

2.5

2.3

—

(3013512) EKG study

145

1.20

0.22

4.1

2.8

—

(40768797) Stomach Pathology biopsy report

104

0.75

0.22

2.1

1.2

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

134.5

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.21

0.0

1.2

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.0

—

(3045424) Erythrocytes [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

—

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

0.00

0.21

0.0

6.2

—

7.3

—

(40759843) Sjogrens syndrome-A 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

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.0

—

(4094501)

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

—

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

0.00

0.21

0.0

1.3

—

13.1

—

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

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

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

34.9

—

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

0.00

0.20

0.0

16.3

—

922.9

—

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

0.00

0.20

0.0

23.4

—

1881.2

—

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

128

1.20

0.19

2.3

1.7

—

(3009542) Hematocrit [Volume Fraction] of Blood

103

1005

1.17

0.19

15.3

12.2

39.1

40.3

0.82

866

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

1.22

0.18

1.7

1.8

8.6

14.5

nmol/l

—

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

0.74

0.17

3.2

1.7

1.4

1.1

g/l

—

(3000963) Hemoglobin [Mass/volume] in Blood

116

1142

1.38

0.17

19.6

15.7

134.4

135.4

g/l

0.39

116

1132

(3010813) Leukocytes [#/volume] in Blood

116

1142

1.38

0.17

19.6

15.6

6.9

6.7

e9/l

0.31

116

1116

(3035941) MCH [Entitic mass]

116

1141

1.40

0.17

19.4

15.6

29.6

29.8

0.39

116

1130

(3024731) MCV [Entitic volume]

116

1141

1.40

0.17

19.4

15.5

88.6

88.8

0.13

116

1131

(3026361) Erythrocytes [#/volume] in Blood

116

1141

1.40

0.17

19.4

15.6

4.6

e12/l

0.03

116

1117

(3007461) Platelets [#/volume] in Blood

116

1140

1.42

0.17

19.7

15.7

265.8

263.9

e9/l

0.12

116

1116

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

974

0.89

0.16

4.5

4.0

—

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

169

1.15

0.16

1.7

1.5

—

(3000492) Spirometry study

0.81

0.15

1.9

1.2

—

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

1.21

0.14

2.3

1.7

—

(40768804) Tissue Pathology biopsy report

337

1.10

0.13

1.8

—

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

158

0.87

0.13

1.2

1.3

11.9

7.9

u/ml

—

(3002256) Pathology report gross observation

106

1.15

0.10

1.0

1.2

—

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

196

0.90

0.09

1.7

1.6

—

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

338

0.93

0.09

1.4

0.5

1.8

u/ml

—

(3023520) Reticulocytes [#/volume] in Blood

1.04

0.09

1.6

5.3

104.2

68.2

e9/l

—

(3042936) Bacteria identified in Isolate by Culture

117

1.12

0.08

1.9

2.4

—

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

0.78

0.08

1.6

1.7

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

225

0.92

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

—

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

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

—

(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

—

(3048689) Calprotectin [Mass/mass] in Stool

198

1.07

0.06

3.5

2.6

100.2

77.8

ug/g

0.24

149

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

333

0.95

0.05

2.0

1.8

—

(3000494) Fungus identified in Specimen by Culture

110

0.90

0.05

1.3

1.6

—

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

111

1.09

0.04

6.5

2.2

816.4

5063.3

u/l

—

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

387

0.97

0.01

2.4

1.8

—

(3016879) Cocaine [Presence] in Urine

111

0.99

0.00

1.8

1.5

—

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

111

0.99

0.00

1.3

1.5

—

(3027944) Amphetamines [Presence] in Urine

121

0.99

0.00

1.8

1.4

—

(3027008) Opiates [Presence] in Urine

121

0.99

0.00

1.8

1.4

—

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

169

1.01

0.00

1.5

1.3

136.6

22.6

iu/ml

—

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

362

0.99

0.00

1.8

1.7

—

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

412

0.99

0.00

2.7

2.2

—

(36660697) Celiac disease serology panel - Serum

137

1.02

0.00

1.4

1.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

285

1.02

0.00

2.2

1.8

—

(3028300) Cannabinoids [Presence] in Urine

122

0.98

0.00

1.8

1.5

—

(3000764) Benzodiazepines [Presence] in Urine

122

0.98

0.00

1.8

1.5

—

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

101

1006

1.02

0.00

11.7

8.4

23.0

25.3

u/l

1.05

101

974

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

374

0.98

0.00

2.5

2.4

—

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

115

1.05

0.00

1.7

1.5

—

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

0.00

0.0

1.4

—

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

0.00

0.0

2.3

—

1.6

—

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

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.0

—

3.7

—

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

0.00

0.0

1.0

—

1.1

—

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

0.00

0.0

1.0

—

2.9

—

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

0.00

0.0

1.0

—

7.7

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

0.0

—

(3015183) Erythrocyte sedimentation rate

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

40.2

—

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

0.93

0.00

2.0

1.5

—

(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

83.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

11.3

—

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

0.00

0.0

5.1

—

25.9

—

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

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

9.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.9

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

423.2

—

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

0.00

0.0

1.0

—

17.1

—

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

0.00

0.0

2.2

—

8.3

—

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

0.00

0.0

1.0

—

(4027681)

0.00

0.0

1.3

—

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

0.00

0.0

7.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

31.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

73.6

—

(3032868) Hemoglobin electrophoresis panel in Blood

0.00

0.0

1.7

—

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

0.00

0.0

1.2

—

(40768446) Kidney Pathology biopsy report

0.00

0.0

3.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.5

—

(3010838) Calcium [Moles/time] in 24 hour Urine

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

162.2

—

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

0.00

0.0

2.0

—

920.4

—

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

0.00

0.0

1.2

—

(3024932) HLA-DR beta [Type]

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.0

2.1

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

(40761536) Microorganisms panel - Urine sediment

0.99

0.00

6.7

3.9

—

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

0.00

0.0

7.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3024471) HLA-A [Type]

0.00

0.0

1.0

—

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

0.00

0.0

4.8

—

34.1

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

5.3

—

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

0.92

0.00

1.4

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3028433) Virus identified in Specimen by Culture

0.00

0.0

1.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.0

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

(4010399)

1.02

0.00

1.3

1.4

—

(3022670) pH of Venous cord blood

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

20.3

—

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

0.00

0.0

2.6

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

2.1

—

(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

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

(3042733) HLA Ab [Presence] in Serum

0.00

0.0

2.4

—

(4146454)

0.00

0.0

2.6

—

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints