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.

Suggest a new description

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 — 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.	69
4. Check minimum number of events None	69
5. Include endpoints None	69
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	53	16
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	48.35	49.08	45.93

-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 (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
58: Matched controls
578

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

M31.4

ICD-10 Finland

Aortic arch syndrome [Takayasu]

+∞

80.4

202

Kela drug reimbursment

Connective tissue diseases, rheumatoid arthritis and comparable disease

30.8

24.8

L04AX03

ATC

methotrexate; systemic (immunosuppressants)

24.2

20.7

H02AB06

ATC

prednisolone; systemic

13.3

15.3

185

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

8.1

12.5

124

GD1AA

NOMESCO Finland

Thorax X-ray examination

7.3

11.4

143

NK4XE

NOMESCO Finland

Joint ultrasound examination not elsewhere classified

16.8

11.3

L04AX01

ATC

azathioprine; systemic

17.9

9.3

M31.5

ICD-10 Finland

Giant cell arteritis with polymyalgia rheumatica

+∞

8.5

PAW37

NOMESCO Finland

Biopsy of temporal artery

+∞

8.5

NK6QA

NOMESCO Finland

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

9.5

8.2

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

7.7

8.2

R70.0

ICD-10 Finland

Elevated erythrocyte sedimentation rate

22.1

8.0

M35.3

ICD-10 Finland

Polymyalgia rheumatica

29.6

7.9

M34.1

ICD-10 Finland

CR(E)ST syndrome

+∞

7.4

PD5CG

NOMESCO Finland

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

+∞

7.4

4467A

ICD-9 Finland

Polyarteritis nodosa and allied conditions, Takayasu's disease

+∞

7.4

ZX120

NOMESCO Finland

Intravenous

8.8

7.1

TNX10

NOMESCO Finland

Arthrocentesis, unspecified region, unspecified region

10.8

7.0

M05BA04

ATC

alendronic acid; oral

9.3

6.9

TPH04

NOMESCO Finland

Cathetrisation of vein

5.0

6.7

I77.6

ICD-10 Finland

Arteritis, unspecified

78.1

6.6

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

17.03

18.35

1.1

1.2

—

(3037522) Nuclear Ab [Titer] in Serum

8.18

16.75

1.6

1.4

960.0

409.2

titre

—

(42870588) Differential panel, method unspecified - Blood

169

8.73

16.68

20.2

4.6

—

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

267

9.35

12.74

9.0

8.4

1.2

mmol/l

1.58

225

(3018418) pH of Serum or Plasma

165

5.97

12.13

4.1

3.5

7.4

—

(3023368) Bacteria identified in Blood by Culture

130

5.60

11.66

5.3

4.7

—

(3004588) Protein electrophoresis panel - Serum or Plasma

10.08

11.02

1.5

1.3

—

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

294

5.80

8.70

5.8

4.5

0.0

estimate

—

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

296

5.73

8.57

3.9

3.2

0.0

estimate

—

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

300

5.60

8.32

4.0

3.3

0.0

estimate

—

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

8.33

8.28

1.8

1.1

0.2

g/l

0.33

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

8.33

8.28

1.8

1.1

1.2

g/l

0.01

(3037467) Urinalysis macro (dipstick) panel - Urine

414

8.52

8.27

8.8

4.0

—

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

9.58

7.78

1.6

1.1

—

(3032080) INR in Blood by Coagulation assay

199

4.08

7.55

10.1

7.3

1.2

inr

0.11

(3015736) pH of Urine

235

4.14

7.30

3.7

2.8

—

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

228

3.80

6.65

3.7

2.4

78.8

75.0

nmol/l

0.41

206

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

138

3.67

6.52

4.2

3.0

—

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

7.14

6.14

2.0

1.3

—

(3018095) Leukocytes [#/volume] in Urine

195

3.50

6.14

6.4

3.4

51.4

e6/l

0.00

134

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

4.78

6.11

1.3

1.5

—

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

17.81

5.55

1.3

1.0

—

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

6.33

5.50

1.5

1.4

—

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

187

3.11

5.10

4.2

3.0

31.4

28.0

u/l

0.48

176

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

184

3.00

4.79

5.5

2.6

—

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

4.48

4.79

1.2

—

(3044889) 12 lead EKG panel

390

4.06

4.78

4.8

3.3

—

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

221

2.93

4.56

5.5

5.1

33.6

35.5

g/l

1.13

214

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

3.16

4.34

3.0

3.2

0.8

mmol/l

0.25

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

3.25

4.27

4.1

2.4

0.5

1.1

e6/l

0.88

(40760892) CBC W Ordered Manual Differential panel - Blood

132

2.89

4.22

11.4

4.1

—

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

8.86

4.18

1.8

1.1

0.1

0.0

g/l

—

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

8.86

4.18

1.8

1.1

0.0

g/l

—

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

8.86

4.18

1.0

1.1

—

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

10.94

4.11

5.1

2.6

4.6

7.8

e9/l

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

10.94

4.11

5.1

4.7

60.1

70.3

—

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

10.94

4.11

1.1

1.6

—

(3000494) Fungus identified in Specimen by Culture

3.49

4.06

1.4

1.9

—

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

8.05

3.98

1.3

—

(36304419) Bacteria [Presence] in Urine

151

2.75

3.95

5.1

2.4

—

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

115

2.84

3.90

2.0

1.4

2.5

3.1

g/l

0.49

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

7.37

3.79

1.3

1.1

—

(3034770) Mitochondria Ab [Titer] in Serum

7.37

3.79

1.3

—

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

7.37

3.79

1.8

2.1

9.2

10.0

mg/l

—

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

8.49

3.65

1.9

1.1

0.0

g/l

—

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

8.49

3.65

1.9

1.1

0.0

g/l

—

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

2.83

3.61

6.9

4.0

87.1

41.9

ng/l

0.31

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

9.24

3.33

1.2

1.0

—

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

9.24

3.33

1.2

1.0

—

(4306422)

6.93

3.27

1.0

1.1

—

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

2.85

3.22

4.7

2.5

2.2

4.0

e6/l

0.39

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

3.66

3.21

1.7

1.6

—

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

8.07

3.12

1.2

1.8

—

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

2.64

3.11

1.5

1.6

—

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

6.35

3.10

1.6

1.5

—

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

113

2.55

3.07

1.3

1.2

51.5

7.1

u/ml

—

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

3.00

2.92

1.9

1.6

—

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

4.88

2.89

1.4

1.3

—

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

2.94

2.82

1.9

1.6

—

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

8.85

2.79

1.0

1.7

—

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

400

2.61

2.79

5.6

4.2

—

423.9

—

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

111

2.44

2.75

1.3

21.3

38.5

iu/ml

—

(40758558) Short blood count panel - Blood

151

2.29

2.68

17.0

6.9

—

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

7.58

2.59

1.2

1.7

—

(40768797) Stomach Pathology biopsy report

2.59

2.51

1.1

1.2

—

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

118

2.27

2.37

1.6

2.1

—

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

5.89

2.25

1.2

1.1

—

(4268621)

5.89

2.25

2.2

1.9

—

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

2.39

2.25

2.1

1.7

—

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

2.44

2.24

1.6

1.5

—

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

2.85

2.22

4.5

4.1

80.3

69.7

ng/l

0.16

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

205

2.05

2.18

4.9

3.0

175.1

37.7

ng/l

0.50

126

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

3.48

2.17

13.6

30.4

—

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

3.77

2.11

17.4

4.4

25.1

mmol/l

—

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

5.29

2.10

1.0

1.6

—

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

4.27

2.08

1.3

1.5

—

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

0.00

1.97

0.0

2.0

—

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

240

1.93

1.90

4.1

3.1

—

(3044640) Blood type and Crossmatch panel - Blood

187

1.95

1.88

2.5

2.1

—

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

137

2.02

1.86

2.4

2.1

—

(3019060) Gas panel - Arterial blood

2.98

1.86

6.0

21.0

—

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

4.40

1.85

1.0

1.5

—

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

2.68

1.85

3.9

4.6

5.9

5.7

kpa

—

(3012516) Albumin [Mass/volume] in Urine

146

1.99

1.83

3.4

2.8

1690.0

43.8

mg/l

0.48

(3042936) Bacteria identified in Isolate by Culture

2.15

1.80

2.8

2.5

—

(3000991) Gas panel - Venous blood

2.88

1.79

17.9

10.9

—

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

0.00

1.78

0.0

1.9

—

(3020682) Albumin/Creatinine [Ratio] in Urine

156

1.94

1.77

3.6

3.8

8.8

8.2

mg/mmol

0.05

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

165

1.92

1.75

4.3

3.2

0.0

estimate

—

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

132

1.98

1.73

2.6

1.6

0.8

1.1

mg/l

0.69

100

(3009542) Hematocrit [Volume Fraction] of Blood

535

2.56

1.70

37.0

14.0

39.3

39.7

0.25

410

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

2.43

1.67

2.2

2.9

21.4

27.6

u/l

0.96

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

2.69

1.65

3.4

4.4

123.4

127.1

g/l

—

(3025941) Bacteria identified in Stool by Culture

2.69

1.65

1.3

—

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

3.51

1.55

1.0

1.5

—

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

3.51

1.55

2.2

2.5

—

(40768443) Skin Pathology biopsy report

3.03

1.54

1.8

1.4

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.89

1.47

2.5

2.3

—

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

2.89

1.47

3.8

1.5

93.0

94.9

—

(40761536) Microorganisms panel - Urine sediment

2.32

1.41

2.5

3.5

—

(3019150) Specific gravity of Urine by Refractometry

141

1.82

1.40

5.0

2.9

1.0

kg/l

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.76

1.40

21.7

11.8

0.8

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.76

1.40

21.7

11.9

95.0

92.2

—

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

117

1.86

1.36

1.4

1.6

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.64

1.33

21.7

11.4

2.0

—

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

205

1.72

1.32

2.5

1.8

91.5

104.5

pmol/l

0.85

101

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

2.53

1.27

1.2

1.4

—

(3041096) Erythrocytes [Presence] in Urine by Automated

172

1.71

1.24

3.0

2.9

—

(3017732) Neutrophils [#/volume] in Blood

2.17

1.23

2.2

2.5

6.8

3.9

e9/l

—

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

544

2.04

1.22

32.7

12.0

83.6

84.9

ml/min/173m2

0.16

440

(3007853) Bacteria identified in Skin by Aerobe culture

1.99

1.18

2.9

1.7

—

(40761535) Cells panel - Urine sediment

2.13

1.16

5.5

2.8

—

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

297

1.62

1.14

4.5

4.3

—

(3013512) EKG study

176

1.66

1.13

6.1

3.2

—

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

2.48

1.11

4.4

2.1

130.8

202.5

—

(3026008) Bacteria identified in Urine by Culture

188

1.61

1.05

4.5

2.8

—

(36660697) Celiac disease serology panel - Serum

1.96

0.98

1.4

1.0

—

(3002256) Pathology report gross observation

1.84

0.96

1.2

—

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

460

1.66

0.94

5.0

4.2

14.6

14.7

pmol/l

0.01

424

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

2.17

0.92

1.7

1.6

—

(3045414) Leukocytes [Presence] in Urine

2.17

0.92

1.3

1.6

—

(3000492) Spirometry study

1.88

0.88

1.6

1.2

—

(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

—

325.1

—

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

2.17

0.76

2.8

3.8

25.3

24.3

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

1.92

0.70

1.8

1.6

—

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

553

1.65

0.70

6.0

4.9

1.7

1.8

mu/l

0.23

512

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

401

1.44

0.67

3.8

2.8

61.0

40.0

u/l

1.33

384

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

1.57

0.63

1.8

3.0

2.5

mmol/l

0.12

(3019225) pH of Specimen

1.61

0.62

5.3

4.0

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.84

0.60

5.0

2.4

4.8

4.4

kpa

—

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

0.00

0.60

0.0

2.1

—

(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

1.57

0.57

4.2

3.3

—

(40768804) Tissue Pathology biopsy report

241

1.35

0.53

2.1

2.0

—

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

0.60

0.49

4.8

4.5

36.8

33.0

—

(3022145) Colonoscopy Study observation

1.51

0.49

1.4

1.3

—

(3022621) pH of Urine by Test strip

1.44

0.46

1.6

2.4

—

(3009343) pH of Capillary blood

1.66

0.44

4.6

1.5

—

7.4

—

(3008898) HLA-B27 [Presence]

1.55

0.42

1.0

—

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

0.00

0.42

0.0

5.9

—

31.6

—

(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

—

(1761868) Lipid panel - Serum or Plasma

218

0.76

0.38

3.2

2.8

—

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

428

0.80

0.35

3.9

3.5

—

(4010399)

1.38

0.24

1.4

—

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

1.30

0.23

5.8

2.8

4.8

4.4

pmol/l

—

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

0.00

0.21

0.0

1.0

—

(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

—

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

0.00

0.21

0.0

1.4

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.1

—

(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

—

15.0

—

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

0.00

0.20

0.0

1.5

—

(21494755) Public health laboratory ask at order entry panel

0.75

0.18

1.2

1.4

—

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

1.18

0.10

1.0

1.4

—

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

1.06

0.09

3.0

1.8

—

(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

176

1.03

0.00

1.4

1.6

—

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

0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

299.6

—

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

0.00

0.0

1.1

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

2.4

—

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

0.00

0.0

1.2

—

14.0

—

(4035726)

0.98

0.00

1.8

1.4

—

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

0.00

0.0

1.0

—

(44806118)

0.00

0.0

1.3

—

(4211845)

0.00

0.0

1.3

—

(3006270) Folate [Moles/volume] in Blood

0.00

0.0

1.2

—

280.6

—

(44790047)

0.00

0.0

1.3

—

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

0.00

0.0

13.1

—

788.6

—

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

0.00

0.0

1.3

—

(4146454)

0.00

0.0

4.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

3.5

—

57.3

—

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

0.00

0.0

1.0

—

(44790048)

0.00

0.0

1.3

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.0

—

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

0.84

0.00

1.0

1.6

—

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

0.00

0.0

18.1

—

1442.9

—

(44790049)

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

3.6

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.7

—

2.2

—

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

0.00

-0.00

0.0

1.6

—

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: 1

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints