Aortic arch syndrome [Takayasu]

M13_TAKAYASU

Takayasu arteritis: Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

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Endpoint definition

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Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — M31.4 Hospital discharge: ICD-9 — 4467 Cause of death: ICD-10 — M31.4 Cause of death: ICD-9 — 4467 2 out of 7 registries used, show all original rules.	70
4. Check minimum number of events None	70
5. Include endpoints None	70
6. Filter based on genotype QC (FinnGen only)	69

Control definitions (FinnGen only)

Control exclude: M13_SYSTCONNECT

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: M31
Name in latin: Syndroma arcus aortae

NAME	M13_TAKAYASU
CONTROL_EXCLUDE	M13_SYSTCONNECT
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	M314
HD_ICD_9	4467
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	M314
COD_ICD_9	4467
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 Aortic arch syndrome [Takayasu] 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	358	271	81
Only index persons	287	221	66
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.00
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	55.89	56.33	53.98
Only index persons	54.26	55.37	50.54

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	69	52	17
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	48.92	49.18	48.11

-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

No data

-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
70: Matched controls
700

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

M31.4

ICD-10 Finland

Aortic arch syndrome [Takayasu]

+∞

97.7

202

Kela drug reimbursment

Connective tissue diseases, rheumatoid arthritis and comparable disease

23.0

41.3

L04AX03

ATC

methotrexate; systemic

19.9

36.9

H02AB06

ATC

prednisolone; systemic

16.2

19.8

226

L04AX01

ATC

azathioprine; systemic

64.0

17.0

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

7.4

14.7

177

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

6.9

12.3

M05BA04

ATC

alendronic acid; oral

16.9

12.0

NK6QA

NOMESCO Finland

Measurement of bone density from two or more locations with X-ray

12.3

11.9

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

6.5

11.8

NK4XE

NOMESCO Finland

Joint ultrasound examination not elsewhere classified

14.2

11.7

R70.0

ICD-10 Finland

Elevated erythrocyte sedimentation rate

34.3

11.2

ZX120

NOMESCO Finland

Intravenous

6.7

10.8

PAW37

NOMESCO Finland

Biopsy of temporal artery

+∞

10.7

TPH04

NOMESCO Finland

Cathetrisation of vein

5.4

10.5

GD1AA

NOMESCO Finland

Thorax X-ray examination

5.2

10.1

206

M31.5

ICD-10 Finland

Giant cell arteritis with polymyalgia rheumatica

64.2

10.0

M31.6

ICD-10 Finland

Other giant cell arteritis

114.9

9.7

I77.6

ICD-10 Finland

Arteritis, unspecified

+∞

9.6

4467A

ICD-9 Finland

Polyarteritis nodosa and allied conditions, Takayasu's disease

+∞

9.6

PD5CG

NOMESCO Finland

Extensive MRI examination of thoracal and abdominal aortta with high intensity magnet

+∞

9.6

PD5DG

NOMESCO Finland

Very extensive MRI examination of thoracal and abdominal aortta with high intensity magnet

+∞

8.5

M35.3

ICD-10 Finland

Polymyalgia rheumatica

18.3

7.5

M34.1

ICD-10 Finland

CR(E)ST syndrome

+∞

7.4

DM1QA

NOMESCO Finland

Paranasal sinuses X-ray examination in one projection

11.1

7.2

H02AB07

ATC

prednisone; oral

4.8

6.8

TNX10

NOMESCO Finland

Arthrocentesis, unspecified region, unspecified region

7.6

6.6

XPX99

NOMESCO Finland

Other diagnostic examination of periferal vessel

8.0

6.4

PD5BD

NOMESCO Finland

Extensive CT of aorta

29.6

6.4

M31.9

ICD-10 Finland

Necrotizing vasculopathy, unspecified

+∞

6.3

M05BA07

ATC

risedronic acid; oral

14.3

6.3

A02BC02

ATC

pantoprazole; systemic

4.8

6.1

369

I35.1

ICD-10 Finland

Aortic (valve) insufficiency

10.6

6.0

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3037522) Nuclear Ab [Titer] in Serum

7.96

16.45

1.6

1.4

960.00

394.29

titre

—

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

269

8.59

12.45

9.0

8.4

1.20

1.23

mmol/l

1.67

227

(40760892) CBC W Ordered Manual Differential panel - Blood

259

7.47

11.83

23.7

5.2

—

(3018418) pH of Serum or Plasma

168

5.70

11.73

4.1

3.5

7.41

7.40

—

(3023368) Bacteria identified in Blood by Culture

131

5.46

11.48

5.3

4.5

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

16.80

10.86

1.1

1.2

—

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

5.82

9.05

3.1

2.2

451.70

387.08

nmol/l

0.17

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

296

5.46

8.48

5.8

4.4

0.00

estimate

—

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

300

5.33

8.22

3.9

3.1

0.00

estimate

—

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

5.71

8.20

4.2

2.0

7.77

10.74

g/l

2.27

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

302

5.27

8.10

4.0

3.2

0.00

estimate

—

(3037467) Urinalysis macro (dipstick) panel - Urine

417

7.23

7.74

8.8

4.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

9.98

7.24

1.5

1.3

—

(3022217) INR in Platelet poor plasma by Coagulation assay

237

3.74

6.56

19.2

10.2

1.16

1.24

inr

0.25

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

138

3.63

6.50

4.2

3.0

—

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

231

3.65

6.41

3.7

2.3

78.78

74.86

nmol/l

0.43

209

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

4.76

6.11

1.3

1.5

—

(3018095) Leukocytes [#/volume] in Urine

196

3.43

6.03

6.4

3.3

51.39

50.01

e6/l

0.01

135

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

8.27

5.72

1.8

1.1

0.22

0.24

g/l

0.33

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

8.27

5.72

1.8

1.1

1.21

g/l

0.01

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

17.78

5.55

1.3

1.0

—

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

9.50

5.26

1.6

1.1

—

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

192

3.14

5.26

4.1

3.0

31.00

28.19

u/l

0.39

180

(3044889) 12 lead EKG panel

397

4.09

4.86

4.7

3.4

—

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

185

2.95

4.71

5.5

2.6

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

7.09

4.48

2.0

1.3

—

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

226

2.80

4.27

5.5

5.0

33.58

35.59

g/l

1.17

217

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

8.85

4.18

1.0

1.1

—

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

8.85

4.18

1.8

1.1

0.00

g/l

—

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

8.85

4.18

1.7

1.1

0.13

0.00

g/l

—

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

3.19

4.17

4.1

2.5

0.53

1.02

e6/l

0.84

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

6.29

4.15

1.5

1.4

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

10.93

4.10

1.1

1.6

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

10.93

4.10

5.1

4.7

60.14

70.29

—

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

10.93

4.10

5.1

2.6

4.57

7.77

e9/l

—

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

3.03

4.07

3.0

3.2

0.82

0.81

mmol/l

0.23

(3017181) Myelocytes/100 leukocytes in Blood

3.73

4.03

9.7

4.0

1.00

0.53

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

8.04

3.98

1.3

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

4.45

3.95

1.2

—

(3000494) Fungus identified in Specimen by Culture

3.41

3.94

1.4

1.9

—

(36304419) Bacteria [Presence] in Urine

153

2.68

3.82

5.1

2.5

—

(3034770) Mitochondria Ab [Titer] in Serum

7.36

3.79

1.3

—

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

7.36

3.79

1.3

1.1

—

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

7.36

3.79

1.8

2.1

9.21

10.04

mg/l

—

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

117

2.77

3.75

2.0

1.5

2.50

3.13

g/l

0.49

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

8.48

3.65

1.9

1.1

0.00

g/l

—

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

8.48

3.65

1.9

1.1

0.00

g/l

—

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

101

2.72

3.38

6.9

3.9

81.69

42.35

ng/l

0.28

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

9.22

3.33

1.2

1.0

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

9.22

3.33

1.2

1.0

—

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

2.80

3.14

4.7

2.7

2.15

4.15

e6/l

0.45

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

8.06

3.12

1.2

1.8

—

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

6.34

3.10

1.6

1.5

—

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

113

2.54

3.06

1.3

1.2

51.53

6.96

u/ml

—

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

2.60

3.04

1.5

1.6

—

(21494815) CD4 cells/100 lymphocytes in Specimen

10.62

3.02

2.4

1.2

50.00

43.52

—

(40768797) Stomach Pathology biopsy report

2.75

2.93

1.1

1.2

—

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

4.87

2.89

1.4

1.3

—

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

3.64

2.88

1.7

1.6

—

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

3.03

2.81

14.4

9.4

104.38

104.22

mmol/l

0.04

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

2.88

2.73

1.9

1.6

—

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

401

2.52

2.70

5.6

4.3

—

17.57

—

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

112

2.41

2.69

1.3

1.2

21.29

37.68

iu/ml

—

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

2.82

2.64

1.9

1.6

—

(40758558) Short blood count panel - Blood

152

2.26

2.62

17.0

6.9

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

7.58

2.59

1.2

1.7

—

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

7.58

2.59

1.0

1.7

—

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

207

2.12

2.42

4.8

2.9

175.14

36.85

ng/l

0.51

128

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

119

2.24

2.31

1.6

2.1

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

5.88

2.25

2.2

1.9

—

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

5.88

2.25

1.2

1.1

—

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

2.84

2.20

4.5

4.1

80.27

69.66

ng/l

0.16

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

2.40

2.17

1.6

1.5

—

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

3.48

2.17

13.6

30.4

—

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

2.32

2.12

2.1

1.7

—

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

4.27

2.08

1.3

1.5

—

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

3.58

2.02

17.4

4.3

25.06

25.15

mmol/l

—

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

4.80

1.97

1.0

1.6

—

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

0.00

1.97

0.0

2.0

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

3.42

1.93

2.4

2.3

—

(3044640) Blood type and Crossmatch panel - Blood

187

1.94

1.87

2.5

2.1

—

(3019060) Gas panel - Arterial blood

2.98

1.85

6.0

21.0

—

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

242

1.89

1.83

4.1

3.0

—

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

138

1.99

1.81

2.4

2.1

—

(3042936) Bacteria identified in Isolate by Culture

2.15

1.80

2.8

2.5

—

(3000991) Gas panel - Venous blood

2.88

1.78

17.9

10.9

—

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

0.00

1.78

0.0

1.9

—

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

4.05

1.74

1.0

1.5

—

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

165

1.92

1.74

4.3

3.2

0.00

estimate

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

2.67

1.73

3.9

4.6

5.93

5.72

kpa

—

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

2.78

1.72

3.4

4.5

123.38

126.55

g/l

—

(3012516) Albumin [Mass/volume] in Urine

149

1.93

1.71

3.4

2.8

1689.96

42.87

mg/l

0.48

(3025941) Bacteria identified in Stool by Culture

2.69

1.65

1.3

—

(3020682) Albumin/Creatinine [Ratio] in Urine

159

1.89

1.65

3.6

3.5

8.81

7.99

mg/mmol

0.07

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

2.37

1.60

2.2

2.9

21.36

27.78

u/l

1.00

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

136

1.90

1.57

2.6

1.6

0.76

1.13

mg/l

0.65

103

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

3.50

1.55

1.0

1.5

—

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

3.50

1.55

2.2

2.5

—

(40768443) Skin Pathology biopsy report

3.02

1.54

1.8

1.4

—

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

2.88

1.47

3.8

1.5

93.00

94.91

—

(3019150) Specific gravity of Urine by Refractometry

140

1.83

1.43

5.0

2.8

1.02

1.01

kg/l

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.75

1.40

21.7

11.8

0.80

0.79

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.75

1.40

21.7

11.9

95.03

92.20

—

(40761536) Microorganisms panel - Urine sediment

2.26

1.35

2.4

3.5

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.64

1.33

21.7

11.4

2.00

1.98

—

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

120

1.80

1.25

1.4

1.6

—

(3017732) Neutrophils [#/volume] in Blood

2.17

1.23

2.2

2.5

6.81

3.86

e9/l

—

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

2.43

1.21

1.2

1.3

—

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

209

1.66

1.20

2.5

1.8

91.46

104.65

pmol/l

0.87

104

(3041096) Erythrocytes [Presence] in Urine by Automated

174

1.68

1.18

3.0

2.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.99

1.17

2.9

1.7

—

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

2.61

1.17

5.0

4.9

25.20

24.69

mmol/l

—

(40761535) Cells panel - Urine sediment

2.13

1.16

5.5

2.8

—

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

297

1.61

1.13

3.1

2.6

—

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

2.48

1.11

4.4

2.1

130.80

202.52

—

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

555

2.02

1.08

32.1

11.7

83.58

84.86

ml/min/173m2

0.15

451

(3000492) Spirometry study

2.05

1.07

1.6

1.2

—

(3013512) EKG study

179

1.62

1.04

6.1

3.2

—

(36660697) Celiac disease serology panel - Serum

1.95

0.98

1.4

1.0

—

(3026008) Bacteria identified in Urine by Culture

191

1.57

0.97

4.5

2.9

—

(3002256) Pathology report gross observation

1.83

0.96

1.3

1.2

—

(3045414) Leukocytes [Presence] in Urine

2.17

0.92

1.3

1.6

—

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

2.02

0.86

1.7

1.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.75

0.85

1.2

1.7

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.81

0.0

1.6

—

325.07

—

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

467

1.56

0.79

5.0

4.2

14.65

14.70

pmol/l

0.07

431

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

2.26

0.78

2.8

3.9

25.32

24.42

mmol/l

—

(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

1.84

0.67

1.8

1.6

—

(3019225) pH of Specimen

1.61

0.62

5.3

3.9

—

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

1.55

0.61

1.8

3.0

2.48

2.47

mmol/l

0.15

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

0.00

0.60

0.0

2.1

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.83

0.60

5.0

2.4

4.75

4.39

kpa

—

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

0.00

0.59

0.0

1.7

—

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

1.54

0.56

4.2

3.3

—

(1761868) Lipid panel - Serum or Plasma

227

0.72

0.51

3.2

2.8

—

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

411

1.35

0.50

3.8

2.8

61.05

40.45

u/l

1.28

394

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

560

1.50

0.49

6.0

4.9

1.73

1.80

mu/l

0.26

519

(40768804) Tissue Pathology biopsy report

243

1.33

0.49

2.1

2.0

—

(3022621) pH of Urine by Test strip

1.48

0.47

1.6

2.4

—

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

436

0.76

0.47

3.9

3.4

—

(3009343) pH of Capillary blood

1.66

0.44

4.6

1.5

—

7.45

—

(3008898) HLA-B27 [Presence]

1.55

0.42

1.0

—

(3022145) Colonoscopy Study observation

1.44

0.41

1.4

1.3

—

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

0.00

0.40

0.0

1.4

—

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

0.00

0.40

0.0

2.1

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.39

0.40

1.2

1.5

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.61

0.38

4.8

4.5

36.80

33.15

—

(4200892) Spirometry reversibility

1.34

0.24

1.4

—

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

1.30

0.23

5.8

2.8

4.78

4.40

pmol/l

—

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

0.00

0.21

0.0

1.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.20

0.0

1.9

—

15.04

—

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

0.00

0.20

0.0

1.5

—

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

0.00

0.20

0.0

4.4

—

32.45

—

(21494755) Public health laboratory ask at order entry panel

0.72

0.18

1.2

1.4

—

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

1.15

0.10

1.0

1.4

—

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

1.08

0.09

3.0

1.9

—

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

0.79

0.08

1.0

1.6

—

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

0.83

0.08

11.2

5.7

—

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

120

0.90

0.05

1.9

1.3

—

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

177

1.02

0.00

1.4

1.6

—

(4035726) Immunohistochemistry procedure

0.98

0.00

1.8

1.4

—

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

0.00

-0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

12.8

—

801.75

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.5

—

57.33

—

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

0.00

-0.00

0.0

1.2

—

13.97

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

4.2

—

(3030429) Borrelia sp DNA [Identifier] 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

1.0

—

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

0.00

-0.00

0.0

1.6

—

(40763324) Parainfluenza virus 1 RNA [Presence] in Isolate by NAA with probe detection

0.00

-0.00

0.0

1.3

—

(3006270) Folate [Moles/volume] in Blood

0.00

-0.00

0.0

1.2

—

280.60

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

-0.00

0.0

1.5

—

8.77

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

18.4

—

1401.38

—

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

0.00

-0.00

0.0

1.1

—

(40763470) Parainfluenza virus 4 RNA [Presence] in Isolate by NAA with probe detection

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

2.7

—

2.24

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.1

—

299.63

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint M13_TAKAYASU and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have M13_TAKAYASU.

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: M13_TAKAYASU – Aortic arch syndrome [Takayasu]

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

Aortic arch syndrome [Takayasu]

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints