Relapsing polychondritis

M13_RELAPSPOLYCHONDR

relapsing polychondritis: Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.

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 — M94.1 Cause of death: ICD-10 — M94.1 2 out of 7 registries used, show all original rules.	81
4. Check minimum number of events None	81
5. Include endpoints None	81
6. Filter based on genotype QC (FinnGen only)	81

Control definitions (FinnGen only)

Control exclude: M13_OTHERBONE

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: M94
Name in latin: Polychondritis recidiva

NAME	M13_RELAPSPOLYCHONDR
CONTROL_EXCLUDE	M13_OTHERBONE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	M941
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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	M941
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Relapsing polychondritis 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	349	227	121
Only index persons	333	217	116
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	52.03	50.64	54.42
Only index persons	51.38	50.03	53.90

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	81	56	25
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	51.72	49.92	55.76

-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
67: Matched controls
670

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

M94.1

ICD-10 Finland

Relapsing polychondritis

+∞

96.2

L04AX03

ATC

methotrexate; systemic (immunosuppressants)

30.1

28.6

202

Kela drug reimbursment

Connective tissue diseases, rheumatoid arthritis and comparable disease

16.2

19.7

H02AB06

ATC

prednisolone; systemic

7.6

12.3

222

L01BA01

ATC

methotrexate; systemic (folic acid analog.)

15.7

9.4

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

4.6

8.0

134

L04AX01

ATC

azathioprine; systemic

11.2

7.2

A46

ICD-10 Finland

Erysipelas

6.8

7.1

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

4.1

6.6

122

H62.0*A46

ICD-10 Finland

Otitis externa in erysipelas

76.9

6.5

P01BA02

ATC

hydroxychloroquine; oral

6.1

6.3

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.8

6.2

173

J01FA06

ATC

roxithromycin; oral

3.7

6.1

193

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3037522) Nuclear Ab [Titer] in Serum

103

7.04

17.39

1.9

1.3

360.0

469.2

titre

0.39

(3022096) Basophils/100 leukocytes in Blood

297

6.50

12.49

14.5

5.6

0.8

0.7

0.30

272

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

6.51

12.41

2.3

1.9

11.8

9.9

g/l

0.95

(3006504) Eosinophils/100 leukocytes in Blood

303

6.30

12.02

14.7

5.7

2.9

2.7

0.20

280

(3019069) Monocytes/100 leukocytes in Blood

306

6.20

11.79

14.9

6.0

9.0

8.1

2.35

285

(3018010) Neutrophils/100 leukocytes in Blood

308

6.14

11.64

14.2

5.7

57.2

58.0

0.26

288

(3002030) Lymphocytes/100 leukocytes in Blood

313

5.98

11.27

14.8

5.8

28.3

27.8

0.14

290

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

6.00

9.67

1.7

1.2

1.0

g/l

0.35

(42870588) Differential panel, method unspecified - Blood

216

4.21

9.31

13.3

4.9

—

(40758558) Short blood count panel - Blood

176

4.08

9.01

11.8

6.9

—

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

7.15

8.49

1.7

1.6

—

(3015736) pH of Urine

263

3.94

8.15

3.4

3.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

5.80

7.79

1.2

—

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

7.80

7.35

1.5

1.3

—

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

336

3.56

6.44

5.1

3.5

0.0

estimate

0.00

(3013707) Erythrocyte sedimentation rate by Westergren method

517

5.16

6.37

9.8

3.9

11.0

10.3

mm/h

0.18

469

(3018095) Leukocytes [#/volume] in Urine

234

3.24

6.31

3.9

3.2

45.2

48.7

e6/l

0.04

168

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

339

3.50

6.29

6.7

4.9

0.0

estimate

0.00

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

342

3.45

6.13

5.1

3.5

0.0

estimate

0.00

(3037467) Urinalysis macro (dipstick) panel - Urine

460

4.38

5.89

8.2

3.6

—

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

5.90

5.70

1.3

1.0

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.52

5.55

2.3

1.3

—

(3002582) Erythrocytes [#/volume] in Urine

192

2.99

5.49

2.9

2.7

72.9

27.4

e6/l

0.35

155

(3025159) Blasts/100 leukocytes in Blood

3.92

5.41

3.4

4.3

0.0

—

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

4.18

5.36

1.4

1.6

—

(40760892) CBC W Ordered Manual Differential panel - Blood

180

2.94

5.28

7.4

5.4

—

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

144

3.02

5.24

1.6

1.3

10.4

41.2

iu/ml

—

(3021440) Promyelocytes/100 leukocytes in Blood

3.77

5.13

4.5

4.3

0.0

0.3

—

(3017181) Myelocytes/100 leukocytes in Blood

3.63

5.07

4.3

4.1

0.6

0.8

—

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

140

2.97

5.02

3.9

3.6

—

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

9.95

4.92

1.2

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

9.95

4.92

1.2

—

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

9.95

4.92

1.2

—

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

9.95

4.92

1.2

—

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

9.95

4.92

1.2

—

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

9.95

4.92

1.2

—

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

142

2.92

4.87

1.7

1.4

1.8

2.4

g/l

2.21

(4062490)

15.12

4.66

1.1

1.0

—

(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum

12.60

4.36

1.3

—

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

290

2.61

4.25

5.5

1.2

mmol/l

0.31

240

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

177

2.59

4.06

2.8

2.5

0.1

0.4

e6/l

1.71

137

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

7.92

3.96

1.1

1.2

—

(3026008) Bacteria identified in Urine by Culture

188

2.52

3.89

3.8

2.3

—

(3002179) Metamyelocytes/100 leukocytes in Blood

3.25

3.78

4.8

4.1

0.4

0.8

—

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

7.26

3.77

1.4

1.3

—

(3018418) pH of Serum or Plasma

183

2.48

3.73

3.6

3.4

7.4

—

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

2.87

3.66

1.2

1.5

—

(3008898) HLA-B27 [Presence]

3.95

3.62

1.3

1.1

—

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

219

2.27

3.18

3.3

2.8

—

(3000494) Fungus identified in Specimen by Culture

2.68

3.14

1.6

1.5

—

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

141

2.37

3.08

1.3

1.1

9.0

u/ml

1.51

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

105

2.50

3.04

1.5

—

(3023368) Bacteria identified in Blood by Culture

127

2.40

3.03

6.4

4.6

—

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

10.53

3.02

1.2

1.0

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

5.78

2.93

1.3

1.4

—

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

5.78

2.93

1.4

1.8

—

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

8.77

2.78

1.0

1.5

—

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

229

2.13

2.77

3.0

3.1

33.4

32.5

u/l

0.07

215

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

142

2.22

2.64

2.5

2.1

9.7

5.6

e6/l

0.34

125

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

432

2.21

2.62

5.8

3.7

—

34.6

—

(40768797) Stomach Pathology biopsy report

2.42

2.58

1.1

1.3

—

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

159

2.16

2.58

1.3

4.6

0.9

u/ml

—

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

2.46

2.2

1.7

—

(3042936) Bacteria identified in Isolate by Culture

2.41

2.46

1.7

2.1

—

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

275

1.99

2.38

5.5

3.6

—

(3052851) Hemolysis interference index of Serum or Plasma

4.15

2.31

3.4

3.1

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

2.57

2.30

2.7

4.0

236.6

250.0

u/l

0.30

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

278

1.96

2.29

3.8

3.5

35.8

36.2

g/l

0.19

261

(36304419) Bacteria [Presence] in Urine

174

2.04

2.28

2.8

2.4

—

(3000492) Spirometry study

2.62

2.26

2.2

1.3

—

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

5.83

2.24

1.2

1.7

—

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

5.83

2.24

1.2

1.7

—

(3000991) Gas panel - Venous blood

2.80

2.20

7.6

5.8

—

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

152

2.05

2.18

2.7

1.7

0.5

1.3

mg/l

1.73

123

(3026782) Osmolality of Urine

126

2.02

1.93

2.6

2.5

598.6

558.4

mosm/kgh2o

0.27

106

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

3.06

1.92

2.8

128.1

133.2

g/l

—

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

2.76

1.87

6.9

4.4

23.9

24.5

mmol/l

—

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

194

1.87

1.85

6.5

3.7

0.0

estimate

0.00

(3012544) pH of Venous blood

2.49

1.79

3.3

2.4

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.84

1.78

1.8

2.5

1.0

1.5

—

(3019832) Treponema pallidum Ab [Presence] in Serum

2.17

1.66

1.4

1.7

—

(3002385) Erythrocyte distribution width [Ratio]

590

2.14

1.65

32.6

14.6

14.0

13.6

1.54

578

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

2.85

1.62

1.1

1.4

—

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

102

1.98

1.61

2.7

2.3

0.9

0.8

e6/l

—

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

3.15

1.61

1.3

1.8

—

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

127

1.88

1.56

1.8

1.4

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

2.11

1.55

2.6

1.8

21.3

24.9

0.54

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

2.02

1.55

2.6

0.8

3.5

e6/l

—

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

112

1.91

1.52

4.5

3.2

182.0

167.8

ng/l

—

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

286

1.70

1.52

3.6

2.6

124.2

103.1

ug/l

0.33

266

(3041096) Erythrocytes [Presence] in Urine by Automated

205

1.74

1.50

5.5

3.1

—

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

129

1.85

1.49

2.0

1.8

—

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

2.64

1.49

1.9

1.4

—

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

2.47

1.48

1.4

1.6

—

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

2.86

1.46

1.3

2.0

—

(3044640) Blood type and Crossmatch panel - Blood

198

1.72

1.45

2.1

2.2

—

(3032080) INR in Blood by Coagulation assay

245

1.67

1.39

19.0

5.6

1.3

1.1

inr

0.67

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

301

1.65

1.38

3.1

3.9

—

(40768804) Tissue Pathology biopsy report

292

1.65

1.37

2.6

1.9

—

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

392

1.63

1.30

4.1

4.0

6.2

6.6

mmol/l

1.11

366

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

2.51

1.27

9.8

8.0

—

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

2.73

1.23

1.6

1.4

—

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

2.14

1.22

2.7

1.6

—

(3025941) Bacteria identified in Stool by Culture

2.16

1.19

1.8

1.3

—

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

138

1.70

1.18

1.9

2.2

—

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

2.47

1.10

1.0

2.0

—

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

2.01

1.06

1.2

48.8

149.6

iu/ml

—

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

1.77

1.06

3.6

1.8

11.8

14.3

umol/l

0.86

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

2.35

1.05

1.4

1.1

—

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

232

1.54

1.04

2.0

1.8

90.9

96.8

pmol/l

0.29

123

(40768443) Skin Pathology biopsy report

2.09

1.03

1.1

—

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

1.82

1.02

3.5

2.1

286.3

361.6

nmol/l

0.70

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

1.97

1.02

2.7

1.6

—

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

244

1.51

0.97

4.4

3.7

17.6

46.2

ng/l

1.02

158

(40761535) Cells panel - Urine sediment

1.93

0.97

3.3

—

(3003338) MCHC [Mass/volume]

604

1.63

0.86

30.1

15.3

331.8

332.1

g/l

0.12

604

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.82

0.78

2.8

1.9

—

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

1.98

0.72

3.6

3.4

24.7

24.8

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

1.98

0.72

2.6

1.5

—

(1761868) Lipid panel - Serum or Plasma

281

0.70

0.67

2.3

2.8

—

(3044889) 12 lead EKG panel

482

1.36

0.59

4.4

3.5

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

0.00

0.59

0.0

2.3

—

2.3

—

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

1.59

0.55

3.4

3.6

—

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

467

1.32

0.51

3.6

3.2

—

(3017732) Neutrophils [#/volume] in Blood

1.61

0.50

1.6

2.2

3.8

e9/l

—

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

136

0.70

0.42

1.8

1.7

483.1

476.0

pmol/l

—

117

(3016701) Glucose [Moles/volume] in Serum or Plasma --2 hours post dose glucose

0.00

0.41

0.0

1.2

—

8.2

—

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

0.00

0.41

0.0

1.7

—

25.0

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.41

0.0

1.1

—

1.1

—

(21494755) Public health laboratory ask at order entry panel

1.44

0.39

1.0

1.3

—

(1002224) Polysomnography panel

1.41

0.39

1.0

—

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

1.41

0.38

2.3

2.1

—

(40761511) CBC panel - Blood by Automated count

730

1.66

0.37

18.2

11.1

—

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

1.50

0.37

1.7

1.2

—

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

1.43

0.36

1.0

1.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

635

1.32

0.35

25.8

12.5

39.7

39.9

0.06

481

(3020682) Albumin/Creatinine [Ratio] in Urine

194

0.78

0.32

3.4

3.8

3.2

8.4

mg/mmol

—

118

(3012516) Albumin [Mass/volume] in Urine

183

0.78

0.32

2.5

3.1

14.8

55.3

mg/l

—

118

(36660697) Celiac disease serology panel - Serum

1.27

0.30

1.1

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

1.22

0.26

3.3

2.7

6.9

7.9

umol/l

—

(40768795) Lymph node Pathology biopsy report

0.00

0.21

0.0

1.1

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

1.3

—

(3008295) Osmolality of Serum or Plasma

0.00

0.21

0.0

1.2

—

271.8

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.21

0.0

1.8

—

91.8

—

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.1

—

0.8

—

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

1.24

0.20

1.2

1.9

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.20

0.0

1.4

—

50.6

—

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

1.23

0.17

2.5

2.1

—

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

1.19

0.16

3.3

3.0

1.0

mmol/l

—

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

1.17

0.16

3.9

6.1

—

(3022145) Colonoscopy Study observation

1.12

0.15

1.1

1.3

—

(3002256) Pathology report gross observation

1.20

0.13

2.4

1.2

—

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

186

0.89

0.10

1.2

1.5

—

(4010399)

1.12

0.09

2.5

1.4

—

(3019225) pH of Specimen

1.10

0.09

1.3

3.8

—

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

0.79

0.08

1.0

1.8

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

1.04

0.07

1.4

1.7

1.3

1.4

—

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

532

1.05

0.02

5.9

4.3

14.6

14.7

pmol/l

0.01

496

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

177

0.95

0.01

6.4

5.1

1.9

1.8

ug/l

0.06

161

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

684

1.06

0.01

3.7

4.5

1.5

mmol/l

0.18

630

(3013512) EKG study

188

1.01

0.00

5.3

3.6

—

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

144

0.97

0.00

1.3

1.4

—

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

141

0.99

0.00

5.1

4.5

24.5

20.8

—

(40761536) Microorganisms panel - Urine sediment

0.92

0.00

14.0

2.8

—

(4281824)

0.00

0.0

1.0

—

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

0.95

0.00

2.0

1.6

—

(3006571) Polymorphonuclear cells/100 leukocytes in Synovial fluid

0.00

0.0

1.6

—

56.8

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.00

0.00

2.0

1.3

—

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

0.00

0.0

14.4

—

877.6

—

(3013637) Mi-2 Ab [Presence] in Serum

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

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

4.8

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

2.3

—

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

0.00

0.0

1.0

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.0

—

(42529598) SUMO-activating enzyme subunit 1 Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

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

0.00

0.0

2.2

—

(42529582) MDA5 Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

5.7

—

127.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.1

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

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

0.00

0.0

17.3

—

1439.1

—

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

0.00

0.0

1.4

—

(42528593) TIF1-gamma Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

(3020717) Zinc [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

22.2

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

0.0

2.7

—

5.5

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

2.4

—

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

0.00

0.0

4.8

—

Mortality – FinRegistry

↥

Association

Association between endpoint M13_RELAPSPOLYCHONDR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have M13_RELAPSPOLYCHONDR.

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_RELAPSPOLYCHONDR – Relapsing polychondritis

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

Relapsing polychondritis

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