Other specified acquired deformities of limbs

M13_LIMBDEFORM

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 — M21.8, M21.9 Hospital discharge: ICD-9 — 736[8-9] Cause of death: ICD-10 — M21.8, M21.9 Cause of death: ICD-9 — 736[8-9] 2 out of 7 registries used, show all original rules.	178
4. Check minimum number of events None	178
5. Include endpoints None	178
6. Filter based on genotype QC (FinnGen only)	178

Control definitions (FinnGen only)

Control exclude: M13_ARTHROPATHIES

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF6

NAME	M13_LIMBDEFORM
CONTROL_EXCLUDE	M13_ARTHROPATHIES
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	M21[8-9]
HD_ICD_9	736[8-9]
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	M21[8-9]
COD_ICD_9	736[8-9]
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 specified acquired deformities of limbs 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	1624	978	639
Only index persons	1493	897	596
Unadjusted period prevalence (%)
Whole population	0.02	0.03	0.02
Only index persons	0.03	0.03	0.02
Median age at first event (years)
Whole population	32.12	39.17	21.06
Only index persons	31.42	38.34	21.00

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	178	119	59
Unadjusted period prevalence (%)	0.04	0.04	0.03
Median age at first event (years)	39.75	39.35	40.55

-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
158: Matched controls
1579

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

M21.8

ICD-10 Finland

Other specified acquired deformities of limbs

1081.3

72.1

M21.9

ICD-10 Finland

Acquired deformity of limb, unspecified

+∞

54.4

7368X

ICD-9 Finland

Other acquired deformities of limbs, Acquired deformities of other parts of limbs

+∞

39.2

M23.2

ICD-10 Finland

Derangement of meniscus due to old tear or injury

240.4

21.1

NHK40

NOMESCO Finland

Osteotomy or rotation osteotomy of II-V metatarsal or tarsal bone

+∞

19.1

M17.1

ICD-10 Finland

Other primary gonarthrosis

17.8

17.4

NH3AA

NOMESCO Finland

Foot and toes X-ray examination

16.0

16.7

NJ2MA

NOMESCO Finland

Measurement of mechanical axis of lower leg with X-ray

+∞

15.9

NGB20

NOMESCO Finland

Primary total prosthetic replacement of knee joint without patellar part

+∞

13.7

9115

FHL

Epiphysiodesis (in hip luxation trokanter 9408)

152.6

13.7

M20.1

ICD-10 Finland

Hallux valgus (acquired)

25.2

13.2

NHK99

NOMESCO Finland

Other operation on bone of ankle or foot

50.9

12.1

N02AA59

ATC

codeine, combinations excl. psycholeptics; systemic

3.4

11.9

396

WX320

NOMESCO Finland

Spinalanesthesy

4.6

11.8

126

NHK30

NOMESCO Finland

Osteotomy or rotation osteotomy of first metatarsal or tarsal bone

+∞

11.6

M16.1

ICD-10 Finland

Other primary coxarthrosis

38.1

11.5

NG1AA

NOMESCO Finland

Knee X-ray examination without contrast

12.5

11.4

9102

FHL

Trepanation or removal of the local bone process

117.5

10.6

NHG80

NOMESCO Finland

Fusion of first tarsometatarsal joint

+∞

10.5

M20.4

ICD-10 Finland

Other hammer toe(s) (acquired)

58.7

9.8

M19.0

ICD-10 Finland

Primary arthrosis of other joints

23.4

9.5

7369X

ICD-9 Finland

Other acquired deformities of limbs, Acquired deformity of limb, site unspecified

+∞

9.5

9271

FHL

Hallux surgery

+∞

9.5

B01AB05

ATC

enoxaparin; parenteral

3.4

9.4

204

M17.0

ICD-10 Finland

Primary gonarthrosis, bilateral

12.6

8.8

M21.4

ICD-10 Finland

Flat foot [pes planus] (acquired)

35.3

8.2

NH1AA

NOMESCO Finland

Ankle X-ray examination without contrast

6.6

8.0

NHU20

NOMESCO Finland

Removal of internal fixation device from ankle or foot

11.7

8.0

M01AH05

ATC

etoricoxib; oral

2.6

8.0

545

M25.5

ICD-10 Finland

Pain in joint

3.3

7.9

160

NH3EA

NOMESCO Finland

Feet X-ray examination with load

47.4

7.8

NH3FA

NOMESCO Finland

Weight-bearing X-ray of foot

47.4

7.8

N02AJ06

ATC

codeine and paracetamol; systemic

2.7

7.5

333

ZXA05

NOMESCO Finland

Left side

3.2

7.5

159

NGA30

NOMESCO Finland

Exploration of knee joint, arthroscopic

14.3

7.5

NHK10

NOMESCO Finland

Incision or excision of metatarsal or tarsal bone

83.9

7.5

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

5.9

7.4

S18

ICPC

Laceration/cut

2.6

7.3

354

N02AX02

ATC

tramadol; systemic, rectal

2.7

7.3

321

L13

ICPC

Hip symptom/complaint

4.2

7.2

L15

ICPC

Knee symptom/complaint

3.6

7.1

108

X59

ICD-10 Finland

Exposure to unspecified factor

3.2

7.0

146

M16.0

ICD-10 Finland

Primary coxarthrosis, bilateral

17.7

6.8

NFB30

NOMESCO Finland

Primary total prosthetic replacement of hip joint not using cement

41.9

6.8

NH1FA

NOMESCO Finland

Weight-bearing X-ray of ankle

72.7

6.5

NGD05

NOMESCO Finland

Partial excision of meniscus of knee, arthroscopic

7.6

6.4

NHL68

NOMESCO Finland

Tenodesis, shortening or lengthening of tendon of foot

+∞

6.3

M21.5

ICD-10 Finland

Acquired clawhand, clubhand, clawfoot and clubfoot

+∞

6.3

WX111

NOMESCO Finland

Local infiltration anesthesia

+∞

6.3

NHL99

NOMESCO Finland

Other operation on muscle or tendon of ankle or foot

+∞

6.3

M79.6

ICD-10 Finland

Pain in limb

2.5

6.0

301

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3008898) HLA-B27 [Presence]

3.81

5.47

1.2

1.0

—

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

499

2.05

5.11

3.4

5.0

g/l

36.8

36.1

0.58

470

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

609

1.92

4.40

7.2

6.9

mmol/l

1.2

0.34

516

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

163

2.34

4.34

1.5

1.2

u/ml

35.9

1.4

—

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

170

2.32

4.33

1.3

1.2

iu/ml

10.3

14.4

1.30

(3042936) Bacteria identified in Isolate by Culture

143

2.32

3.87

1.8

2.0

—

(3013707) Erythrocyte sedimentation rate by Westergren method

122

966

1.84

3.45

4.2

3.2

mm/h

11.0

9.8

0.43

115

882

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

125

999

1.84

3.41

6.0

7.3

u/l

75.5

78.9

0.39

116

938

(3052851) Hemolysis interference index of Serum or Plasma

3.41

2.1

4.3

—

(3044889) 12 lead EKG panel

116

909

1.79

3.35

3.1

3.3

—

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

205

2.02

3.27

3.0

4.8

mmol/l

0.8

0.42

195

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

3.23

3.15

1.5

1.2

—

(3019309) Folate [Moles/volume] in Red Blood Cells

201

1.99

3.11

2.0

1.6

nmol/l

1269.7

1099.4

0.40

147

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

588

1.69

2.96

3.7

3.8

—

(3018418) pH of Serum or Plasma

391

1.72

2.74

3.7

3.9

7.4

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

132

1106

1.75

2.70

4.2

3.8

pmol/l

15.1

14.6

1.20

121

1025

(3007368) IgG [Mass/volume] in Cerebral spinal fluid

7.31

2.56

1.0

mg/l

21.6

39.3

—

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

104

2.16

2.48

3.0

3.2

—

(42870588) Differential panel, method unspecified - Blood

401

1.66

2.47

4.9

5.2

—

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

555

1.61

2.43

6.4

6.7

mmol/l

1.2

0.06

508

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

237

1.77

2.33

1.9

1.7

pmol/l

459.0

423.4

0.32

206

(3023368) Bacteria identified in Blood by Culture

296

1.70

2.29

3.1

3.8

—

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

668

1.56

2.21

4.4

7.5

umol/l

9.3

12.2

2.46

629

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

422

1.60

2.16

2.4

3.5

mmol/l

2.4

0.29

379

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

459

1.58

2.13

2.6

3.3

ng/l

18.8

35.6

1.09

285

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

2.28

2.11

4.4

9.4

mmol/l

24.1

24.8

0.22

(3000494) Fungus identified in Specimen by Culture

134

1.91

2.08

1.3

1.5

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

2.91

2.03

2.1

2.5

—

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

2.54

1.97

2.3

2.2

—

(3032080) INR in Blood by Coagulation assay

466

1.54

1.97

8.1

6.4

inr

1.0

1.2

2.66

144

(3007853) Bacteria identified in Skin by Aerobe culture

130

1.88

1.93

1.6

1.7

—

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

2.22

1.87

1.9

1.8

—

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

457

1.51

1.77

2.8

3.1

—

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

281

1.60

1.76

1.7

2.2

mg/l

1.7

1.0

0.47

209

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

2.38

1.74

2.3

2.4

—

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

764

1.46

1.68

4.8

4.7

mmol/l

6.3

6.5

0.67

691

(3047007) Chlamydophila sp Ab [Presence] in Serum

3.23

1.67

1.2

—

(3026493) Urate [Moles/volume] in Serum or Plasma

287

1.56

1.61

3.2

2.8

umol/l

328.2

9914.2

2.02

255

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

2.76

1.59

1.7

1.5

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

3.40

1.53

1.0

1.3

—

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

123

0.39

1.43

1.4

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

287

1.51

1.40

1.9

1.8

mg/l

2.8

3.1

0.35

241

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

2.26

1.39

16.7

15.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

108

933

1.40

1.37

5.0

3.8

—

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

2.99

1.37

2.2

1.4

12.4

13.1

—

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

237

1.54

1.36

2.8

3.7

ng/l

22.5

203.6

2.10

169

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

361

1.45

1.34

1.4

1.3

u/ml

0.8

1.2

—

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

222

1.54

1.31

2.1

2.8

mmol/l

2.4

0.02

202

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

531

1.39

1.26

2.9

2.3

nmol/l

77.8

73.5

0.58

484

(3027315) Oxygen [Partial pressure] in Blood

2.68

1.22

4.0

2.6

kpa

8.9

9.3

—

(3013290) Carbon dioxide [Partial pressure] in Blood

2.68

1.22

4.0

2.6

kpa

4.7

5.1

—

(3032773) Endomysium IgG Ab [Titer] in Serum

2.68

1.22

1.0

1.1

—

(3019069) Monocytes/100 leukocytes in Blood

602

1.36

1.18

6.4

5.7

8.8

8.3

0.63

568

(3005322) IgE [Units/volume] in Serum or Plasma

1.87

1.18

1.5

1.3

u/ml

129.1

190.8

0.49

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

390

1.39

1.13

2.2

2.3

u/l

62.5

54.2

0.50

368

(3006504) Eosinophils/100 leukocytes in Blood

596

1.35

1.13

6.3

5.4

2.9

2.7

0.21

557

(40761536) Microorganisms panel - Urine sediment

121

1.64

1.11

3.8

3.4

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

2.42

1.10

1.2

1.1

—

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

677

1.33

1.07

6.3

4.5

estimate

0.0

0.50

124

(3022096) Basophils/100 leukocytes in Blood

582

1.33

1.06

6.4

5.4

0.7

0.10

542

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

161

1522

1.61

1.05

14.8

12.9

umol/l

72.0

73.0

0.15

161

1522

(3022621) pH of Urine by Test strip

1.75

1.05

1.9

2.1

—

(40761511) CBC panel - Blood by Automated count

161

1523

1.60

1.03

13.0

10.2

—

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

151

1411

1.46

1.02

14.4

11.4

mg/l

23.6

22.9

0.08

128

1054

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

682

1.31

1.00

4.1

3.2

estimate

0.0

0.00

118

(3002582) Erythrocytes [#/volume] in Urine

398

1.36

1.00

2.8

3.0

e6/l

9.5

56.6

2.08

297

(3026008) Bacteria identified in Urine by Culture

372

1.36

0.97

2.4

2.8

—

(3002030) Lymphocytes/100 leukocytes in Blood

627

1.31

0.96

6.2

5.5

27.4

28.1

0.23

593

(3044290) Cell count panel - Cerebral spinal fluid

2.26

0.94

1.2

1.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

411

1.34

0.94

4.6

2.7

—

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

356

1.35

0.93

2.6

3.0

e6/l

0.2

0.4

0.47

257

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

449

1.33

0.93

2.3

1.8

pmol/l

92.5

90.5

0.11

241

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

143

1331

1.38

0.92

5.2

4.4

mu/l

1.7

2.7

0.59

136

1232

(3011288) Drugs identified in Urine by Screen method

1.83

0.89

1.2

2.2

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

296

1.36

0.87

2.3

3.6

ng/l

1506.4

1105.5

0.16

240

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

113

1.56

0.86

10.9

8.9

kpa

5.3

5.0

0.89

105

(3027801) Oxygen [Partial pressure] in Arterial blood

113

1.56

0.86

10.8

8.9

kpa

11.4

12.5

0.71

107

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.80

0.85

13.5

13.0

0.7

—

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

1.81

0.85

1.0

1.2

—

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

1.77

0.83

1.0

1.2

—

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

1.77

0.83

1.0

1.2

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.77

0.81

13.5

12.8

1.4

1.8

—

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

318

1.33

0.80

1.3

1.4

g/l

1.9

2.2

0.77

198

(3009508) Creatinine [Moles/volume] in Urine

365

1.31

0.79

2.9

3.2

mmol/l

8.5

7.5

0.54

311

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

319

1.33

0.79

2.0

1.6

—

(3006315) Basophils [#/volume] in Blood

641

1.26

0.78

6.3

5.3

e9/l

0.0

0.10

549

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

0.00

0.78

0.0

1.4

—

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

671

1.26

0.77

4.2

3.2

estimate

0.0

0.00

122

(3018010) Neutrophils/100 leukocytes in Blood

623

1.26

0.77

6.1

5.3

58.1

57.3

0.21

589

(3021589) Normoblasts [#/volume] in Blood

614

1.26

0.76

9.1

8.2

e9/l

0.0

0.62

489

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

170

0.62

0.75

1.5

1.7

—

(3000991) Gas panel - Venous blood

1.57

0.75

12.1

12.9

—

(3019198) Lymphocytes [#/volume] in Blood

665

1.25

0.73

6.3

5.4

e9/l

1.8

1.9

0.56

585

(3021960) Folate [Moles/volume] in Serum or Plasma

259

1.34

0.72

2.0

1.4

nmol/l

21.2

21.7

0.06

214

(3001122) Ferritin [Mass/volume] in Serum or Plasma

646

1.25

0.72

2.8

2.5

ug/l

77.0

90.9

0.38

603

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

1.61

0.72

15.2

12.6

mmol/l

25.1

24.1

—

(3001604) Monocytes [#/volume] in Blood

637

1.25

0.71

6.4

5.3

e9/l

0.6

0.16

547

(40761535) Cells panel - Urine sediment

1.57

0.71

2.8

3.3

—

(3012516) Albumin [Mass/volume] in Urine

315

1.30

0.71

3.2

3.1

mg/l

132.3

301.8

0.32

197

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

1.74

0.71

1.6

1.0

—

(21494755) Public health laboratory ask at order entry panel

202

0.67

0.70

1.2

1.4

—

(40768797) Stomach Pathology biopsy report

171

1.40

0.70

1.2

—

(36304419) Bacteria [Presence] in Urine

362

1.29

0.70

1.9

3.0

—

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

534

1.25

0.68

4.8

3.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

145

1375

1.29

0.63

15.7

12.2

40.4

0.06

1082

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

1.62

0.63

2.1

1.7

—

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

1.63

0.62

1.1

1.3

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.60

0.0

6.8

—

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

0.00

0.58

0.0

1.1

—

(3018095) Leukocytes [#/volume] in Urine

465

1.23

0.58

3.2

3.5

e6/l

62.0

90.2

0.17

315

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

1.69

0.57

1.5

—

(3020891) Body temperature

1.69

0.57

2.7

6.6

—

(3013512) EKG study

334

1.25

0.57

3.8

3.4

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

1.50

0.56

1.9

2.4

ng/l

81.4

158.5

1.13

(3016879) Cocaine [Presence] in Urine

1.52

0.55

1.2

1.8

—

(3023520) Reticulocytes [#/volume] in Blood

1.52

0.55

1.8

2.4

e9/l

64.4

73.3

—

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

1.48

0.54

1.0

1.5

—

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

1.48

0.54

1.2

1.6

—

(36660697) Celiac disease serology panel - Serum

135

1.37

0.53

1.2

1.1

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

110

1022

1.20

0.53

2.9

3.0

u/l

36.5

40.4

0.44

104

972

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

159

1535

1.34

0.52

9.7

8.7

u/l

24.8

26.3

0.56

153

1487

(3013115) Eosinophils [#/volume] in Blood

665

1.19

0.51

6.4

5.8

e9/l

0.2

0.09

581

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

301

1.25

0.51

2.4

2.3

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

119

1.38

0.50

1.2

iu/ml

234.6

133.6

—

(3027008) Opiates [Presence] in Urine

1.46

0.46

1.2

1.8

—

(3023511) Choriogonadotropin [Units/volume] in Urine

1.45

0.46

1.6

1.2

—

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

163

0.72

0.46

1.3

1.9

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.48

0.45

1.5

2.9

—

(3028300) Cannabinoids [Presence] in Urine

1.44

0.44

1.2

1.8

—

(44790048)

0.00

0.41

0.0

1.9

—

(44790047)

0.00

0.41

0.0

1.9

—

(44790049)

0.00

0.41

0.0

1.9

—

(44806118)

0.00

0.41

0.0

1.9

—

(4062490)

0.00

0.41

0.0

1.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

211

0.79

0.37

1.4

1.8

—

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

181

1.25

0.36

1.9

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

138

1327

1.18

0.36

3.7

3.6

mmol/l

1.3

1.2

0.25

129

1231

(1002224) Polysomnography panel

0.61

0.36

1.0

1.1

—

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

200

1.23

0.36

2.2

1.6

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

199

0.78

0.35

2.1

1.5

—

(3002256) Pathology report gross observation

164

1.25

0.34

1.2

1.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.67

0.34

1.0

1.2

—

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

366

0.85

0.33

2.1

2.0

—

(3020682) Albumin/Creatinine [Ratio] in Urine

335

1.17

0.33

4.2

3.9

mg/mmol

20.6

10.6

0.30

213

(3022145) Colonoscopy Study observation

152

0.77

0.31

1.2

—

(3027944) Amphetamines [Presence] in Urine

1.33

0.28

1.1

1.8

—

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

339

1.15

0.28

2.2

1.6

mmol/l

1.3

0.15

286

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

117

0.76

0.28

1.3

1.5

—

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

122

1.25

0.28

2.1

1.8

—

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

104

1.27

0.27

1.7

—

(3000764) Benzodiazepines [Presence] in Urine

1.32

0.26

1.2

1.8

—

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

236

1.17

0.26

4.3

4.1

18.2

23.0

—

110

(40758558) Short blood count panel - Blood

352

1.14

0.25

6.7

7.3

—

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

353

1.13

0.24

3.7

3.3

estimate

0.0

0.50

121

(4035726)

125

0.79

0.23

1.2

1.6

—

(3049717) Cytology report of Urine Cyto stain

1.32

0.23

2.0

2.4

—

(3027945) Reticulocytes/100 erythrocytes in Blood

116

1.22

0.23

1.4

2.8

1.7

0.14

109

(3003327) Ova and parasites identified in Stool by Light microscopy

1.20

0.21

1.0

1.4

—

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

0.00

0.21

0.0

1.0

—

(3011648) Oxygen content in Venous blood

0.00

0.21

0.0

5.9

—

13.4

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.5

—

3.0

—

(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

2.3

—

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

0.00

0.21

0.0

7.4

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

0.21

0.0

4.4

—

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

0.00

0.21

0.0

1.8

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.21

0.0

3.2

—

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

0.00

0.21

0.0

1.3

—

(40768441) Liver Pathology biopsy report

0.00

0.21

0.0

2.3

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.0

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.21

0.0

1.7

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.21

0.0

1.2

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

1.17

0.21

6.8

1.3

g/l

0.2

—

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

1.26

0.21

1.1

1.3

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.0

—

(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood

0.00

0.21

0.0

1.9

—

578.0

—

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

130

1335

0.90

0.20

12.4

10.5

ml/min/173m2

88.7

87.7

0.17

103

1067

(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC

0.00

0.20

0.0

1.6

—

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

0.00

0.20

0.0

4.6

—

98.0

—

(3000034) Microalbumin [Mass/volume] in Urine

0.00

0.20

0.0

2.7

—

22.8

—

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

0.00

0.20

0.0

2.4

—

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

0.00

0.20

0.0

2.4

—

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

0.00

0.20

0.0

2.4

—

(3045414) Leukocytes [Presence] in Urine

1.21

0.20

1.0

1.8

—

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

121

0.82

0.18

11.0

6.9

—

(3019060) Gas panel - Arterial blood

1.19

0.18

6.1

4.0

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

1.19

0.18

1.4

1.6

—

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

1.13

0.17

2.7

4.5

mmol/l

24.1

24.7

—

(3044640) Blood type and Crossmatch panel - Blood

411

1.09

0.16

2.7

2.3

—

(3022313) Gas panel - Capillary blood

1.12

0.16

2.5

4.3

—

(3025941) Bacteria identified in Stool by Culture

1.12

0.15

1.1

1.2

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

141

1383

1.09

0.15

4.2

3.9

mmol/l

1.4

1.5

0.27

133

1280

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

111

1081

1.07

0.14

3.4

—

(4010399)

1.19

0.12

1.1

1.4

—

(1761868) Lipid panel - Serum or Plasma

555

1.07

0.12

2.3

2.7

—

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

153

1.12

0.11

2.4

1.9

—

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

280

0.92

0.11

1.7

2.3

—

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

1.17

0.11

2.7

4.2

kpa

5.0

5.1

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

143

1409

1.08

0.11

4.8

4.3

mmol/l

2.9

2.8

0.48

135

1304

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

141

1389

1.07

0.10

4.5

3.9

mmol/l

4.8

4.7

0.21

133

1293

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

207

0.91

0.10

3.6

2.7

e6/l

0.7

2.5

—

101

(3019225) pH of Specimen

106

1.14

0.10

5.7

5.1

—

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

106

1.14

0.10

1.1

1.0

—

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

137

1350

1.06

0.09

4.2

3.8

mmol/l

5.6

5.8

1.51

126

1241

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

185

0.91

0.08

2.4

2.5

ug/l

0.4

0.8

—

112

(3008152) Bicarbonate [Moles/volume] in Arterial blood

1.05

0.08

6.2

mmol/l

24.6

23.8

—

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

0.84

0.07

1.3

1.4

—

(3009343) pH of Capillary blood

1.04

0.07

2.8

4.2

—

7.4

—

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

1.13

0.07

1.2

1.3

—

(40768804) Tissue Pathology biopsy report

563

1.04

0.07

1.8

2.0

—

(3000492) Spirometry study

138

1.09

0.06

1.4

—

(3005719) IgG [Mass/volume] in Serum or Plasma

101

0.89

0.06

2.6

2.2

g/l

10.9

10.0

—

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

121

0.90

0.06

1.5

1.7

—

(3012544) pH of Venous blood

121

0.90

0.06

5.9

5.8

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

182

0.93

0.06

2.6

3.5

29.6

30.4

0.31

177

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

283

0.95

0.05

1.6

1.5

—

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

283

0.95

0.05

3.2

3.4

—

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

1.12

0.05

1.5

1.4

—

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

251

0.95

0.04

1.5

2.1

—

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

767

1.03

0.04

8.3

9.8

e9/l

3.7

4.2

1.54

661

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

419

1.03

0.03

1.3

1.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

290

1.04

0.03

5.1

5.4

—

(3020779) Urea [Moles/volume] in Serum or Plasma

108

0.92

0.03

6.6

9.2

mmol/l

9.5

7.2

—

101

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

126

1266

0.98

0.00

5.0

4.9

mmol/mol

37.9

38.8

0.56

119

1179

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

121

0.99

0.00

1.5

1.6

—

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

292

0.99

0.00

1.9

1.7

—

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

122

0.98

0.00

1.4

1.6

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.3

—

(43055514) Macroprolactin [Presence] in Serum or Plasma

0.00

0.0

1.9

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.91

0.00

2.0

1.8

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

0.0

5.2

—

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

0.00

0.0

2.3

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.3

—

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

0.00

0.0

2.3

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

(3029396) Erythrocyte agglutination [Presence] in Blood

0.00

0.0

1.8

—

(3002222) Hepatitis E virus IgM Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

(3006245) CD3-CD19+ cells/100 cells in Blood

0.00

0.0

2.4

—

24.0

—

(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture

0.00

0.0

1.5

—

(3042733) HLA Ab [Presence] in Serum

0.00

0.0

1.8

—

(40758292) HTLV I+II Ab panel - Serum

0.00

0.0

1.8

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

3.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood

0.00

0.0

2.3

—

20.5

—

(3032057) Clostridioides difficile [Presence] in Stool

0.00

0.0

2.0

—

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

0.00

0.0

1.4

—

6.1

—

(3017704) Immunofixation for Urine

0.00

0.0

2.2

—

(3045066) Thymidine kinase [Enzymatic activity/volume] in Serum

0.00

0.0

1.5

—

18.7

—

(40768446) Kidney Pathology biopsy report

0.00

0.0

1.2

—

(3000012) Reticulocyte production index

0.00

0.0

1.0

—

(40760109) Toxoplasma gondii IgG Ab avidity [Ratio] in Serum by Immunoassay

0.00

0.0

1.0

—

(3012565) Volume of 24 hour Urine

0.00

0.0

1.6

—

2031.3

—

(3035880) pH of Pleural fluid

0.00

0.0

1.0

—

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

0.00

0.0

3.2

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

1.5

—

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

0.94

0.00

2.0

1.6

—

(3020650) Glucose [Presence] in Urine

0.00

0.0

1.2

—

(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.0

—

(3000330) Specific gravity of Urine by Test strip

0.94

0.00

8.0

3.2

—

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

0.00

0.0

1.1

—

(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

1091.9

—

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

210

1.00

0.00

3.5

2.7

e6/l

3.4

0.9

0.34

104

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

0.00

0.0

3.2

—

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

0.00

0.0

1.0

—

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

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

1.5

—

(3036432) Mycobacterium tuberculosis genotype [Identifier] in Isolate

0.00

0.0

3.6

—

(3005791) Eosinophil cationic protein (ECP) [Mass/volume] in Serum

0.00

0.0

3.5

—

18.5

—

(3029023) Hepatitis E virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.6

—

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

0.00

0.0

1.0

—

(3022058) Hepatitis B virus DNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.0

1.8

—

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

0.00

0.0

1.1

—

(3016845) Adenovirus Ag [Presence] in Specimen by Immunofluorescence

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

188.6

—

(3024471) HLA-A [Type]

0.00

0.0

1.0

—

(3024932) HLA-DR beta [Type]

0.00

0.0

1.1

—

(3047189) Immunofixation for 24 hour Urine

0.00

0.0

1.8

—

(3014271) Vancomycin [Susceptibility]

0.00

0.0

2.0

—

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

0.00

0.0

1.0

—

109.3

—

(3010254) Herpes simplex virus identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

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

0.00

0.0

3.2

—

(3018921) Toxoplasma gondii IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

0.0

14.6

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

0.0

1.0

—

(3023659) Complement C1 esterase inhibitor.functional/Complement C1 esterase inhibitor.total in Serum or Plasma

0.00

0.0

1.1

—

112.3

—

(40757494) Bilirubin.total [Moles/volume] in Blood

0.00

0.0

2.8

—

(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

3.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint M13_LIMBDEFORM and mortality.

Females

Parameter	HR [95% CI]	p-value
M13_LIMBDEFORM	1.57 [1.14, 2.17]	0.006
Birth year	0.994 [0.99, 1.0]	0.203

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 621 females with M13_LIMBDEFORM died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have M13_LIMBDEFORM.

N-year risk	Females	Males
1	0.187%	No data
5	0.894%	No data
10	2.358%	No data
15	4.271%	No data
20	7.636%	No data

Relationships between endpoints

↥

Index endpoint: M13_LIMBDEFORM – Other specified acquired deformities of limbs

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 specified acquired deformities of limbs

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