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.

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Endpoint definition

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 M94.1
  • Cause of death: ICD-10 M94.1

2 out of 7 registries used, show all original rules.

83

4. Check minimum number of events

None

83

5. Include endpoints

None

83

6. Filter based on genotype QC (FinnGen only)

80

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

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

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 80 56 24
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 51.31 49.81 54.81

-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
83
Matched controls
830
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
M94.1
ICD-10 Finland
Relapsing polychondritis
+∞
119.5
83
*
L04AX03
ATC
methotrexate; systemic
23.8
49.9
51
52
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
16.1
37.2
45
57
H02AB06
ATC
prednisolone; systemic
8.4
15.6
68
292
L01BA01
ATC
methotrexate; systemic
18.7
12.0
18
12
H61.0
ICD-10 Finland
Perichondritis of external ear
+∞
11.7
11
*
L04AX01
ATC
azathioprine; systemic
19.0
11.4
17
11
P01BA02
ATC
hydroxychloroquine; oral
6.2
10.4
21
43
H02AB07
ATC
prednisone; oral
5.4
9.7
23
55
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.3
9.6
40
149
A46
ICD-10 Finland
Erysipelas
5.0
8.2
21
53
H62.0*A46
ICD-10 Finland
Otitis externa in erysipelas
49.9
7.9
9
*
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
7.1
7.4
18
31
J01FF01
ATC
clindamycin; systemic
3.5
7.0
36
150
R03BA05
ATC
fluticasone; inhalant
3.8
6.9
26
88
H60.1
ICD-10 Finland
Cellulitis of external ear
24.9
6.8
9
*
J01DB01
ATC
cefalexin; oral
9.8
6.8
80
607
J01FA06
ATC
roxithromycin; oral
3.3
6.6
49
252
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.2
6.5
42
199
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
4.8
6.4
16
39
M94.9
ICD-10 Finland
Disorder of cartilage, unspecified
+∞
6.3
6
*

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
43
106
7.34
18.73
1.8
1.3
342.50
469.23
titre
0.50
16
26
66
312
6.45
12.47
14.5
5.7
2.89
2.73
%
0.24
66
291
65
305
6.22
12.34
14.4
5.6
0.77
0.73
%
0.34
65
280
66
316
6.31
12.16
14.8
5.9
8.93
8.09
%
1.77
66
295
25
53
6.32
12.12
2.3
1.9
11.81
9.85
g/l
0.96
25
47
66
318
6.25
12.01
14.0
5.6
57.05
57.86
%
0.26
66
298
66
323
6.09
11.64
14.6
5.7
28.31
28.01
%
0.09
66
303
67
332
6.28
11.64
13.9
6.2
—
—
—
0
0
20
43
5.81
9.40
1.7
1.7
1.16
1.03
g/l
0.38
20
38
44
182
4.02
9.04
11.6
6.9
—
—
—
0
0
60
345
3.67
6.83
5.0
3.5
0.00
0.00
estimate
-0.00
12
78
60
347
3.63
6.73
6.5
4.8
0.00
0.00
estimate
-0.00
12
75
60
350
3.58
6.57
5.0
3.5
0.00
0.00
estimate
-0.00
12
71
75
534
5.19
6.54
9.7
3.9
10.73
10.16
mm/h
0.16
75
486
47
239
3.23
6.44
3.9
3.1
43.88
48.01
e6/l
0.05
33
171
71
472
4.49
6.14
8.1
3.6
—
—
—
0
0
16
33
5.75
5.81
1.2
1.2
—
—
—
0
0
40
197
2.99
5.62
2.8
2.6
70.92
27.68
e6/l
0.34
32
159
32
141
3.07
5.44
3.9
3.6
—
—
—
0
0
23
83
3.45
5.42
2.3
1.3
—
—
—
0
0
33
150
2.99
5.30
1.6
1.3
10.40
39.19
iu/ml
—
10
48
18
57
3.76
5.12
3.4
4.4
0.00
0.00
%
—
5
17
32
146
2.94
5.07
1.7
1.3
1.76
2.38
g/l
2.32
25
95
9
10
9.92
4.92
1.2
1.2
—
—
—
0
0
16
48
3.89
4.90
1.4
1.5
—
—
—
0
0
18
59
3.62
4.87
4.5
4.3
0.00
0.25
%
—
5
20
19
65
3.49
4.82
4.3
4.2
0.67
0.75
%
—
6
26
7
5
15.09
4.66
1.1
1.0
—
—
—
0
0
7
6
12.57
4.36
1.3
1.3
—
—
—
0
0
49
298
2.57
4.24
5.4
5.4
1.21
1.22
mmol/l
0.23
43
250
8
12
7.24
3.77
1.4
1.3
—
—
—
0
0
34
182
2.47
3.76
2.8
2.5
0.15
0.42
e6/l
1.20
29
141
29
147
2.50
3.58
1.3
1.3
1.12
9.04
u/ml
1.65
13
59
16
59
3.12
3.56
4.8
4.1
0.40
0.53
%
—
5
20
34
187
2.39
3.50
3.6
3.4
7.42
7.41
ph
—
5
37
8
14
6.19
3.43
1.3
1.4
—
—
—
0
0
35
197
2.34
3.41
3.9
2.2
—
—
—
0
0
26
128
2.50
3.39
6.2
4.5
—
—
—
0
0
20
88
2.68
3.25
1.2
1.5
—
—
—
0
0
7
13
5.77
2.93
1.4
1.8
—
—
—
0
0
19
86
2.57
2.91
1.6
1.4
—
—
—
0
0
28
153
2.25
2.85
2.6
1.7
0.49
1.32
mg/l
1.84
23
124
29
162
2.21
2.79
1.3
1.3
4.59
0.93
u/ml
—
9
45
22
110
2.36
2.73
1.5
1.5
—
—
—
0
0
11
36
3.36
2.68
1.3
1.1
—
—
—
0
0
59
441
2.17
2.59
5.7
3.7
—
34.57
—
0
7
9
26
3.75
2.57
8.2
8.5
23.67
24.30
mmol/l
—
9
26
19
92
2.38
2.52
1.1
1.3
—
—
—
0
0
14
59
2.65
2.45
2.1
1.3
—
—
—
0
0
26
146
2.14
2.43
2.5
2.1
10.42
5.51
e6/l
0.42
26
131
15
67
2.51
2.34
6.2
6.0
105.73
103.79
mmol/l
0.84
15
67
32
197
2.02
2.34
6.2
3.7
0.00
0.00
estimate
-0.00
12
73
7
18
4.14
2.30
3.4
3.1
—
—
—
0
0
18
89
2.31
2.27
1.7
2.0
—
—
—
0
0
29
178
1.97
2.11
2.8
2.4
—
—
—
0
0
11
44
2.73
2.11
7.6
5.7
—
—
—
0
0
41
283
1.89
2.10
3.8
3.5
35.77
36.26
g/l
0.24
41
267
8
28
3.05
1.92
1.7
2.4
0.56
0.73
%
—
8
28
8
29
2.94
1.84
2.8
2.8
128.13
133.48
g/l
—
8
29
15
75
2.22
1.83
2.9
1.7
22.27
25.11
%
0.40
15
64
9
36
2.68
1.80
6.9
4.3
23.89
24.50
mmol/l
—
9
36
41
295
1.77
1.76
23.2
10.0
1.32
1.15
inr
0.61
19
91
5
13
4.02
1.74
1.4
1.1
—
—
—
0
0
11
49
2.44
1.72
3.3
2.4
—
—
—
0
0
22
131
1.92
1.71
2.9
2.5
598.18
553.38
mosm/kgh2o
0.30
22
111
8
31
2.74
1.71
1.8
2.4
1.04
1.51
%
—
8
31
14
73
2.10
1.55
1.4
1.7
—
—
—
0
0
31
212
1.74
1.55
5.4
3.1
—
—
—
0
0
5
15
3.48
1.54
1.2
1.3
—
—
—
0
0
10
46
2.33
1.46
7.6
5.3
0.99
1.36
mmol/l
—
10
46
40
299
1.65
1.41
2.5
1.9
—
—
—
0
0
29
199
1.70
1.41
2.1
2.2
—
—
—
0
0
19
115
1.85
1.40
4.5
3.1
182.00
167.84
ng/l
—
8
79
11
55
2.15
1.34
1.2
1.2
45.87
143.88
iu/ml
—
6
20
40
302
1.63
1.34
4.3
2.6
123.44
101.56
ug/l
0.36
40
282
11
56
2.11
1.29
3.1
3.3
—
—
—
0
0
50
402
1.61
1.28
4.0
3.9
6.21
6.61
mmol/l
1.07
50
376
21
135
1.74
1.27
2.0
1.8
—
—
—
0
0
16
95
1.85
1.25
3.8
1.7
11.99
14.46
umol/l
0.88
16
85
8
39
2.16
1.19
1.8
1.3
—
—
—
0
0
32
238
1.56
1.10
2.0
1.9
92.21
95.78
pmol/l
0.17
20
128
33
249
1.54
1.06
4.4
3.7
17.57
45.94
ng/l
1.02
21
159
7
36
2.03
0.99
1.1
1.1
—
—
—
0
0
13
78
1.79
0.98
3.5
2.1
286.31
358.76
nmol/l
0.66
13
71
70
630
1.71
0.96
32.6
14.2
14.38
14.90
%
0.57
70
619
22
289
0.68
0.79
2.3
2.8
—
—
—
0
0
6
34
1.82
0.78
2.8
1.9
—
—
—
0
0
56
493
1.42
0.72
4.3
3.5
—
—
—
0
0
5
26
1.98
0.72
3.6
3.4
24.68
24.75
mmol/l
—
5
26
7
47
1.53
0.49
1.6
2.7
3.79
8.83
e9/l
—
7
40
78
749
1.69
0.48
18.1
10.9
—
—
—
0
0
11
77
1.49
0.48
1.0
1.3
—
—
—
0
0
5
31
1.65
0.44
1.2
1.3
—
—
—
0
0
0
17
0.00
0.41
0.0
1.6
—
24.96
—
0
17
16
195
0.78
0.33
3.0
3.7
3.17
8.31
mg/mmol
—
10
119
15
184
0.77
0.33
2.5
3.1
14.81
54.54
mg/l
—
9
121
7
54
1.32
0.31
2.3
1.4
—
—
—
0
0
7
56
1.27
0.30
1.1
1.1
—
—
—
0
0
11
138
0.77
0.28
1.7
1.7
474.82
483.59
pmol/l
0.05
11
119
9
75
1.22
0.26
3.3
2.7
6.87
7.88
umol/l
—
9
64
5
38
1.34
0.23
1.0
1.0
—
—
—
0
0
10
79
1.30
0.23
3.3
2.9
0.95
1.01
mmol/l
—
10
74
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
91.59
—
0
11
0
10
0.00
0.21
0.0
1.2
—
271.80
—
0
5
0
14
0.00
0.20
0.0
1.4
—
50.64
—
0
14
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
17
191
0.86
0.16
1.2
1.5
—
—
—
0
0
9
81
1.12
0.15
1.1
1.3
—
—
—
0
0
10
87
1.17
0.10
2.4
1.2
—
—
—
0
0
6
55
1.10
0.09
1.3
3.8
—
—
—
0
0
6
55
1.10
0.09
1.2
2.0
—
—
—
0
0
5
62
0.79
0.08
1.0
1.8
—
—
—
0
0
20
189
1.08
0.05
5.0
3.6
—
—
—
0
0
56
549
1.06
0.04
5.9
4.3
14.75
14.62
pmol/l
0.13
56
513
17
177
0.95
0.01
6.4
5.1
1.93
1.82
ug/l
0.06
17
161
6
67
0.89
0.00
2.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
17.3
—
1439.14
—
0
7
0
9
0.00
-0.00
0.0
1.0
—
22.23
—
0
9
0
7
0.00
-0.00
0.0
14.4
—
877.57
—
0
7
70
700
1.00
-0.00
3.7
4.5
1.53
1.50
mmol/l
0.20
70
647
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.7
—
5.52
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
66
0.90
-0.00
14.0
2.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

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
FinnGen
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