Multiple congenital exostoses, including avohilmo

Q17_MULTIPLE_CONGENITAL_EXOSTOSES_WIDE

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Primary healthcare outpatient: ICD-10 — Q78.6 Hospital discharge: ICD-10 — Q78.6 Cause of death: ICD-10 — Q78.6 3 out of 7 registries used, show all original rules.	113
4. Check minimum number of events None	113
5. Include endpoints None	113
6. Filter based on genotype QC (FinnGen only)	101

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze: DF13

NAME	Q17_MULTIPLE_CONGENITAL_EXOSTOSES_WIDE
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD	Q786
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q786
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q786
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 Multiple congenital exostoses, including avohilmo based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Multiple congenital exostoses

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	101	48	53
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	35.70	22.65	47.51

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
107: Matched controls
1070

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q78.6

ICD-10 Finland

Multiple congenital exostoses

+∞

151.3

106

NFR20

NOMESCO Finland

Incomplete excision of soft tissue tumour of hip or thigh

146.5

12.7

D16.2

ICD-10 Finland

Benign neoplasm: Long bones of lower limb

33.4

9.6

D48.0

ICD-10 Finland

Neoplasm of uncertain or unknown behaviour: Bone and articular cartilage

18.3

8.8

NFK10

NOMESCO Finland

Fenestration or partial or total excision of bone of femur

+∞

8.4

NGR20

NOMESCO Finland

Intralesional or marginal excision of tumor of knee or lower leg

+∞

7.4

9102

FHL

Trepanation or removal of the local bone process

42.9

6.9

NBR20

NOMESCO Finland

Intralesional or marginal excision of soft tissue tumour of shoulder or upper arm

74.1

6.5

75665

ICD-8 Finland

Other congenital anomalies of musculoskeletal system, Exostosis cartilaginea multiplex

+∞

6.3

M85.8

ICD-10 Finland

Other specified disorders of bone density and structure

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40768804) Tissue Pathology biopsy report

334

2.33

4.43

2.3

1.8

—

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

375

2.11

3.54

7.4

9.3

1.22

1.21

mmol/l

0.31

333

(3044640) Blood type and Crossmatch panel - Blood

285

2.08

3.29

2.2

2.4

—

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

211

2.06

2.94

2.2

2.3

—

(3033658) Prothrombin time (PT) actual/Normal

211

2.06

2.94

3.3

4.4

93.72

91.29

0.28

206

(3002256) Pathology report gross observation

2.50

2.91

1.4

1.2

—

(42870588) Differential panel, method unspecified - Blood

284

1.86

2.42

8.9

5.3

—

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

115

2.15

2.37

2.5

2.7

2.40

2.71

e6/l

—

(4035726) Immunohistochemistry procedure

2.49

2.26

1.2

1.4

—

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

5.76

2.24

1.0

1.3

—

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

5.76

2.24

1.0

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

589

1.83

2.16

4.3

4.2

—

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

5.18

2.09

1.4

1.1

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

5.18

2.09

1.0

1.3

—

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

418

1.71

1.99

2.6

2.8

—

estimate

—

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

335

1.72

1.97

2.1

1.9

101.64

96.53

pmol/l

0.30

176

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

135

1.90

1.81

2.6

1.28

0.96

e6/l

0.17

(3005033) Fetal Nuchal fold Thickness US

0.00

1.75

0.0

1.6

—

1.32

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

1.75

0.0

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

1.73

0.0

1.7

—

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

1.98

1.70

7.6

9.5

102.17

104.22

mmol/l

0.65

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

3.11

1.60

1.0

1.4

—

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

863

2.09

1.52

16.9

12.1

91.46

91.24

ml/min/173m2

0.03

788

(40761535) Cells panel - Urine sediment

2.13

1.44

3.0

2.9

—

(3018418) pH of Serum or Plasma

232

1.61

1.38

4.4

3.9

7.38

7.39

0.94

170

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

296

1.56

1.35

1.6

—

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

2.02

1.28

1.7

2.3

2482.75

7372.57

u/l

—

(3019977) pH of Arterial blood

1.84

1.22

7.6

16.0

7.42

—

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

161

1.63

1.20

1.4

1.3

10.60

23.61

iu/ml

—

(3031040) Bacteria [#/volume] in Urine by Automated count

576

1.50

1.17

4.1

3.7

—

13.17

—

(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

2.27

1.10

1.3

1.6

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

2.45

1.10

1.0

1.2

—

(3022621) pH of Urine by Test strip

1.89

1.10

1.9

2.0

5.92

6.17

—

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

244

1.51

1.10

3.9

3.1

0.00

0.01

estimate

0.49

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

2.33

1.04

2.6

2.5

—

(3001604) Monocytes [#/volume] in Blood

474

1.43

1.03

9.5

5.6

0.57

0.55

e9/l

0.27

424

(3011288) Drugs identified in Urine by Screen method Nominal

1.90

1.03

2.1

2.6

—

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

2.07

1.02

2.7

2.5

—

(3006315) Basophils [#/volume] in Blood

475

1.43

1.01

9.5

5.6

0.04

e9/l

0.00

423

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

475

1.43

1.01

3.3

2.9

0.00

estimate

—

(3013115) Eosinophils [#/volume] in Blood

495

1.43

1.01

9.5

5.9

0.19

e9/l

0.06

449

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

135

1.59

0.98

3.0

2.8

2.44

2.42

mmol/l

0.25

119

(3019198) Lymphocytes [#/volume] in Blood

487

1.42

0.98

9.4

5.8

1.80

1.90

e9/l

0.63

446

(3016879) Cocaine [Presence] in Urine

1.76

0.96

2.4

1.9

—

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

223

1.48

0.96

2.9

2.8

0.07

0.22

e6/l

1.25

171

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

478

1.41

0.96

3.3

2.9

0.00

estimate

-0.00

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

362

1.42

0.96

3.2

2.7

0.00

estimate

—

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

1.90

0.95

1.5

1.7

—

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

845

1.63

0.95

6.1

4.9

1.71

1.87

mu/l

0.57

791

(1002224) Polysomnography panel

1.83

0.94

1.2

1.1

—

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

1.83

0.94

2.4

2.1

—

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

207

1.48

0.92

3.8

3.1

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

2.06

0.88

1.3

1.4

—

(3018095) Leukocytes [#/volume] in Urine

310

1.41

0.88

3.5

3.3

4.65

31.26

e6/l

4.20

222

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

174

1.49

0.87

1.6

1.7

—

(3002582) Erythrocytes [#/volume] in Urine

265

1.41

0.85

3.1

2.9

13.54

56.54

e6/l

2.20

212

(3017732) Neutrophils [#/volume] in Blood

123

1.56

0.84

3.8

3.2

4.31

6.28

e9/l

0.52

112

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

486

1.37

0.83

3.3

3.0

0.00

estimate

—

(3009508) Creatinine [Moles/volume] in Urine

294

1.40

0.83

3.6

3.2

6.62

8.45

mmol/l

1.95

259

(3028626) Oxygen [Partial pressure] in Capillary blood

0.00

0.80

0.0

3.1

—

8.90

—

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

0.00

0.79

0.0

1.2

—

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

0.00

0.79

0.0

1.2

—

(3000764) Benzodiazepines [Presence] in Urine

1.64

0.79

2.4

1.9

—

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

108

1.57

0.79

1.6

—

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

0.00

0.78

0.0

1.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.81

0.77

1.8

4.7

—

(3010421) pH of Blood

2.23

0.77

1.4

3.4

7.43

7.41

—

(3028300) Cannabinoids [Presence] in Urine

1.62

0.76

2.4

1.9

—

(3027008) Opiates [Presence] in Urine

1.62

0.76

2.3

1.8

—

(3027944) Amphetamines [Presence] in Urine

1.62

0.76

2.2

1.8

—

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

2.13

0.75

3.2

2.8

—

(3022313) Gas panel - Capillary blood

1.90

0.75

5.9

4.8

—

(3000494) Fungus identified in Specimen by Culture

101

1.56

0.75

1.2

1.6

—

(3022145) Colonoscopy Study observation

1.58

0.74

1.2

1.4

—

(3044889) 12 lead EKG panel

585

1.33

0.70

4.5

3.5

—

(3042936) Bacteria identified in Isolate by Culture

120

1.50

0.70

2.1

2.4

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

187

0.65

0.69

1.5

1.6

—

(3013512) EKG study

256

1.36

0.68

3.2

3.3

—

(4024509) Urine culture

1.63

0.66

1.9

1.8

—

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

139

1.45

0.66

1.7

1.8

—

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

1.58

0.66

1.7

2.0

11.83

10.55

g/l

0.61

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

1.76

0.64

1.2

3.6

3.90

3.32

g/l

—

(3026008) Bacteria identified in Urine by Culture

203

1.37

0.64

2.5

2.8

—

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

1.68

0.64

2.1

1.4

—

(3007566) Smooth muscle Ab [Titer] in Serum

1.70

0.62

1.4

—

58.00

—

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

0.00

0.61

0.0

1.4

—

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

0.00

0.60

0.0

1.6

—

(3019150) Specific gravity of Urine by Refractometry

205

1.35

0.60

4.5

3.0

1.02

kg/l

0.08

130

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

717

1.32

0.59

5.0

4.1

14.74

14.63

pmol/l

0.16

665

(3012516) Albumin [Mass/volume] in Urine

243

1.33

0.58

3.4

61.51

84.47

mg/l

0.29

166

(3032080) INR in Blood by Coagulation assay

367

1.29

0.58

4.1

11.9

1.04

1.18

inr

2.71

312

(3020682) Albumin/Creatinine [Ratio] in Urine

244

1.32

0.57

4.1

4.0

10.17

12.18

mg/mmol

0.13

164

(3021387) Prolactin [Units/volume] in Serum or Plasma

1.57

0.56

2.1

1.6

230.11

330.14

mu/l

—

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

1.66

0.56

1.2

—

(3015736) pH of Urine

378

1.28

0.56

2.7

2.8

6.45

6.16

0.92

216

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

101

973

1.68

0.55

21.5

15.8

74.66

75.90

umol/l

0.21

101

963

(3023368) Bacteria identified in Blood by Culture

208

1.33

0.55

5.4

5.1

—

(40758558) Short blood count panel - Blood

276

1.28

0.51

9.5

5.7

—

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

268

1.28

0.49

5.2

4.1

2.29

1.53

ug/l

0.58

247

(3021589) Normoblasts [#/volume] in Blood

415

1.24

0.46

10.2

9.5

0.00

e9/l

-0.00

333

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

1.44

0.43

1.1

1.05

0.91

g/l

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

1.44

0.43

1.1

1.38

1.58

g/l

—

(3034770) Mitochondria Ab [Titer] in Serum

1.59

0.43

1.2

1.4

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.41

0.0

2.6

—

27.69

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.41

0.0

1.1

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.41

0.0

2.2

—

91.01

—

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

136

0.71

0.40

1.8

2.3

2.80

2.32

g/l

—

126

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

742

1.25

0.40

3.7

3.8

—

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

0.00

0.39

0.0

1.0

—

(3006184) Hemoglobin [Mass/volume] in Capillary blood

0.00

0.39

0.0

1.9

—

132.85

—

(3000991) Gas panel - Venous blood

1.43

0.38

3.8

11.1

—

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

219

1.25

0.38

2.0

2.3

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.49

0.37

3.8

2.7

0.57

0.67

—

(3019832) Treponema pallidum Ab [Presence] in Serum

198

0.77

0.36

2.1

1.8

—

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

1.41

0.36

2.3

2.4

28.20

32.48

u/l

—

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

1.42

0.35

2.7

1.4

—

(3019060) Gas panel - Arterial blood

1.38

0.35

4.7

14.5

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.38

0.35

3.8

2.7

1.23

1.66

—

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

1.32

0.33

1.5

—

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

101

1.33

0.33

2.5

2.0

—

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

232

1.22

0.33

1.2

1.4

2.40

2.22

g/l

0.26

141

(40761511) CBC panel - Blood by Automated count

100

973

1.42

0.32

13.6

11.7

—

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

204

1.23

0.32

1.9

2.2

—

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

1.37

0.32

2.9

7.5

24.87

25.21

mmol/l

—

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

1.37

0.31

2.6

2.8

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

1.32

0.31

2.3

3.5

1.24

1.22

mmol/l

—

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

113

1.27

0.28

1.1

1.5

—

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

540

1.16

0.28

12.9

8.8

3.81

4.04

e9/l

0.54

478

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

296

1.17

0.25

2.3

2.2

—

(3014051) Protein [Presence] in Urine by Test strip

268

1.17

0.24

1.8

2.4

—

0.00

—

(40768797) Stomach Pathology biopsy report

107

1.24

0.23

1.7

1.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

101

0.78

0.22

2.3

1.7

—

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

164

1.19

0.22

4.6

2.6

0.93

0.77

ug/l

0.21

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.21

0.0

3.0

—

32.73

—

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

2.6

—

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

2.0

—

(3000012) Reticulocyte production index

0.00

0.21

0.0

2.9

—

0.98

—

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

0.00

0.21

0.0

1.3

—

(3032700) Glomerular basement membrane Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

(3027945) Reticulocytes/Erythrocytes in Blood

1.28

0.21

1.0

2.9

1.81

1.85

—

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

0.00

0.21

0.0

2.5

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.21

0.0

2.2

—

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

0.00

0.21

0.0

1.6

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.21

0.0

1.9

—

(3008898) HLA-B27 [Presence]

1.26

0.20

1.0

1.1

—

(3050449) Albumin [Mass/time] in Urine collected for unspecified duration

0.00

0.20

0.0

3.2

—

26.64

—

(3025941) Bacteria identified in Stool by Culture

1.21

0.20

1.0

1.2

—

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

215

0.86

0.19

5.3

3.7

19.94

23.57

—

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

283

1.13

0.18

3.1

2.8

54.13

69.67

u/l

0.49

267

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

1.16

0.18

1.4

4.4

4.17

4.60

pmol/l

—

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

1.24

0.18

7.2

6.1

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

1.14

0.17

1.1

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.19

0.17

1.1

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

267

1.12

0.15

2.4

2.3

0.00

estimate

—

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

122

1.17

0.14

3.0

2.0

—

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

258

1.12

0.14

1.1

1.4

0.52

1.67

u/ml

—

(40760892) CBC W Ordered Manual Differential panel - Blood

251

0.89

0.13

5.3

4.2

—

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

249

0.90

0.11

1.8

—

(3023103) Potassium [Moles/volume] in Serum or Plasma

903

1.13

0.11

19.7

15.2

3.95

mmol/l

0.01

888

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

320

1.09

0.11

4.3

3.4

31.80

48.58

ng/l

0.46

194

(3000492) Spirometry study

115

1.15

0.11

1.2

1.4

—

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

926

1.12

0.09

18.0

13.0

26.15

22.75

mg/l

0.42

753

(1761868) Lipid panel - Serum or Plasma

417

0.93

0.08

2.4

2.6

—

(3003338) MCHC [Entitic Mass/volume] in Red Blood Cells

835

0.92

0.08

19.5

15.9

333.22

334.20

g/l

0.46

835

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

0.81

0.08

1.5

1.2

177.83

332.15

u/ml

—

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

257

1.07

0.06

1.7

1.8

—

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

110

1.10

0.05

1.5

2.0

—

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

194

1.04

0.00

3.1

2.4

5.01

5.42

e6/l

0.07

183

(36660697) Celiac disease serology panel - Serum

1.02

0.00

1.1

1.2

—

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

158

1.01

0.00

1.6

—

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

105

1.05

0.00

1.2

1.5

—

(21494755) Public health laboratory ask at order entry panel

139

1.01

0.00

1.4

1.3

—

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

0.00

-0.00

0.0

1.0

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3036603) Volume of Urine

0.00

-0.00

0.0

1.4

—

1933.89

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(3027456) Digoxin [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.3

—

0.88

—

(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

(21494815) CD4 cells/Lymphocytes in Specimen

0.00

-0.00

0.0

1.7

—

31.84

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

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

2.3

—

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

0.00

-0.00

0.0

2.1

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

-0.00

0.0

2.6

—

(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

-0.00

0.0

1.0

—

129.60

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.8

—

3.38

—

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

0.00

-0.00

0.0

1.1

—

136.56

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.1

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

-0.00

0.0

1.1

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

1.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.3

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

10.97

—

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

0.00

-0.00

0.0

4.8

—

105.50

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.1

—

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

0.97

-0.00

1.0

—

(37020937) Giardia lamblia DNA [Presence] in Stool 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

—

34.28

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

-0.00

0.0

2.2

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

-0.00

0.0

1.4

—

14.57

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.3

—

0.86

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

-0.00

0.0

15.0

—

10.02

—

(3036669) Protein S actual/normal in Platelet poor plasma by Coagulation assay

0.00

-0.00

0.0

1.2

—

105.80

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

-0.00

0.0

39.8

—

5.17

—

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

380

1.00

-0.00

1.8

1.9

1.60

1.43

mmol/l

0.55

330

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

0.84

-0.00

1.2

1.6

—

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

0.00

-0.00

0.0

2.3

—

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

0.00

-0.00

0.0

1.5

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

147.80

—

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

0.00

-0.00

0.0

1.2

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

-0.00

0.0

1.3

—

(3048518) aPTT.lupus sensitive actual/normal (normalized LA screen)

0.00

-0.00

0.0

1.1

—

1.09

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

2.3

—

(3017704) Immunofixation for Urine

0.00

-0.00

0.0

2.2

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

(3011648) Oxygen content in Venous blood

0.00

-0.00

0.0

2.1

—

10.63

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

54.40

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.90

-0.00

1.0

1.1

—

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

1.02

-0.00

1.4

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

103.60

—

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

0.00

-0.00

0.0

1.0

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

(44806071) Cardiolipin IgM antibody measurement

0.00

-0.00

0.0

1.2

—

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_MULTIPLE_CONGENITAL_EXOSTOSES_WIDE – Multiple congenital exostoses, including avohilmo

GWS hits: 1

This endpoint is excluded (different definition than used in FinnGen).

≡ Risteys

R14

FinnGen R13 + FinRegistry

FinnGen R12 + FinRegistry

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Multiple congenital exostoses, including avohilmo

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Multiple congenital exostoses, including avohilmo (Q17_MULTIPLE_CONGENITAL_EXOSTOSES_WIDE)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS

Matched cohort

LabWAS

Mortality – FinRegistry

Relationships between endpoints