Severe bullous disorders, KELA reimbursement

L12_PEMPHIKELA

vesiculobullous skin disease: Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)

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:

  • KELA reimbursements: KELA codes 135

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

73

4. Check minimum number of events

None

73

5. Include endpoints

None

73

6. Filter based on genotype QC (FinnGen only)

73

Control definitions (FinnGen only)

Control exclude
L12_BULLOUS

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2

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 753 435 305
Only index persons 495 299 196
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 70.06 70.07 70.21
Only index persons 68.20 68.53 67.69

-FinnGen-

Key figures

All Female Male
Number of individuals 73 36 37
Unadjusted period prevalence (%) 0.01 0.01 0.02
Median age at first event (years) 64.29 60.80 67.69

-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
63
Matched controls
632
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
135
Kela drug reimbursment
Pemphigus
+∞
90.4
63
*
L12.0
ICD-10 Finland
Bullous pemphigoid
+∞
51.1
42
*
L04AX01
ATC
azathioprine; systemic
131.4
37.8
38
7
H02AB06
ATC
prednisolone; systemic
42.4
23.4
60
201
D07AC01
ATC
betamethasone; topical
12.0
17.7
48
132
D07AD01
ATC
clobetasol; topical
10.2
14.4
33
61
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
12.3
13.9
27
36
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
8.4
13.7
45
144
L12.9
ICD-10 Finland
Pemphigoid, unspecified
+∞
10.7
10
*
J04BA02
ATC
dapsone; oral
116.7
9.7
10
*
E0000UV
ATC
NA
5.4
9.0
40
153
L10.0
ICD-10 Finland
Pemphigus vulgaris
+∞
8.5
8
*
L12.1
ICD-10 Finland
Cicatricial pemphigoid
+∞
8.5
8
*
M05BA04
ATC
alendronic acid; oral
7.1
8.2
21
41
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
10.9
7.5
14
16
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
7.8
6.7
15
24
L10.2
ICD-10 Finland
Pemphigus foliaceus
+∞
6.3
6
*
D07BB04
ATC
hydrocortisone butyrate and antiseptics; topical
5.3
6.1
19
47

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
48
239
3.94
7.38
14.5
6.0
3.1
2.6
%
0.84
48
224
47
232
3.88
7.30
14.5
6.0
0.8
0.6
%
1.29
47
218
48
243
3.85
7.11
14.8
6.4
9.3
8.5
%
1.12
48
229
38
176
3.42
6.26
14.3
4.9
—
—
—
0
0
57
420
2.63
2.99
4.5
4.4
14.3
14.6
mm/h
0.04
52
377
23
115
2.46
2.92
11.7
6.6
—
—
—
0
0
27
148
2.31
2.79
2.0
1.7
296.0
468.7
pmol/l
3.83
21
128
15
67
2.56
2.37
1.2
1.6
—
—
—
0
0
7
20
3.75
2.11
1.3
1.1
—
—
—
0
0
5
10
5.27
2.10
6.8
5.2
106.0
104.4
mmol/l
—
5
10
5
10
5.27
2.10
6.8
5.2
13.0
10.2
mmol/l
—
5
10
29
186
1.93
1.88
3.6
4.1
—
—
—
0
0
38
268
1.87
1.84
8.6
9.4
1.3
1.3
inr
—
10
85
33
224
1.86
1.79
3.5
4.0
—
—
—
0
0
12
56
2.37
1.72
2.5
1.8
—
—
—
0
0
48
389
1.68
1.26
4.3
4.6
—
—
—
0
0
24
163
1.70
1.23
3.6
4.2
—
—
—
0
0
24
168
1.64
1.09
4.5
4.2
0.0
0.0
estimate
—
9
62
60
527
1.78
1.05
6.4
6.4
42.4
40.8
mmol/mol
0.45
55
484
61
540
1.79
1.01
20.5
16.6
26.1
26.2
mg/l
0.01
53
433
63
566
1.83
0.95
22.4
15.6
—
—
—
0
0
36
287
1.50
0.90
4.4
4.3
0.0
0.0
estimate
—
9
63
10
57
1.87
0.89
1.1
1.3
—
—
—
0
0
11
65
1.82
0.88
4.8
5.5
113.0
119.7
g/l
0.54
11
65
36
289
1.48
0.87
4.7
5.9
0.0
0.0
estimate
—
9
63
60
537
1.66
0.85
4.5
5.1
6.0
6.1
mmol/l
0.13
53
484
8
47
1.79
0.84
4.6
3.5
—
—
—
0
0
11
67
1.76
0.80
1.9
4.0
—
—
—
0
0
9
53
1.79
0.79
3.8
4.6
—
—
—
0
0
36
293
1.45
0.79
4.3
4.3
0.0
0.0
estimate
—
8
59
32
255
1.45
0.78
2.2
2.0
79.4
92.2
pmol/l
0.97
19
119
13
189
0.62
0.77
4.2
4.4
—
—
—
0
0
9
55
1.72
0.77
2.6
6.5
—
—
—
0
0
9
58
1.63
0.73
1.1
1.2
—
—
—
0
0
7
41
1.78
0.72
2.7
2.0
209.4
107.6
ng/l
—
7
35
7
42
1.74
0.71
3.0
1.3
—
—
—
0
0
57
512
1.52
0.70
4.5
4.6
2.0
2.0
mu/l
0.06
51
451
22
166
1.47
0.70
3.4
3.4
—
—
—
0
0
25
195
1.43
0.67
3.1
3.2
158.9
49.3
mg/l
0.67
19
131
8
49
1.71
0.65
1.4
2.1
—
—
—
0
0
25
197
1.41
0.63
5.6
4.4
7.4
7.4
ph
—
5
41
5
30
1.71
0.62
2.0
4.4
—
—
—
0
0
58
529
1.47
0.60
4.0
5.0
1.5
1.4
mmol/l
0.58
53
471
62
573
1.54
0.59
29.0
19.7
82.5
81.9
umol/l
0.07
62
573
0
23
0.00
0.59
0.0
5.2
—
—
—
0
0
6
37
1.68
0.57
2.0
3.0
0.6
0.7
%
—
6
37
6
37
1.68
0.57
1.7
3.0
1.1
1.2
%
—
6
37
56
512
1.40
0.53
3.6
4.4
1.1
1.3
mmol/l
1.10
50
455
22
176
1.36
0.50
2.1
2.4
—
—
—
0
0
5
31
1.66
0.44
1.4
2.0
1.1
1.9
g/l
—
5
25
0
15
0.00
0.41
0.0
2.5
—
—
—
0
0
0
15
0.00
0.41
0.0
3.3
—
—
—
0
0
0
15
0.00
0.41
0.0
3.3
—
3.9
—
0
15
0
15
0.00
0.41
0.0
3.3
—
108.1
—
0
15
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
2.5
—
11.7
—
0
17
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
46
417
1.28
0.40
3.8
4.1
—
—
—
0
0
9
122
0.70
0.39
1.2
1.4
—
—
—
0
0
5
36
1.42
0.39
3.0
3.1
—
—
—
0
0
57
532
1.33
0.39
4.1
5.0
4.4
4.5
mmol/l
0.10
52
480
6
43
1.43
0.36
1.3
1.7
—
—
—
0
0
25
213
1.26
0.36
3.8
3.9
48.9
7.5
mg/mmol
0.69
20
140
15
185
0.76
0.35
2.7
3.2
0.1
0.3
e6/l
—
10
144
10
125
0.77
0.25
4.8
2.6
2.5
2.5
mmol/l
—
10
107
5
38
1.34
0.24
1.8
3.7
—
7.5
—
0
7
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
3.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
10
81
1.27
0.20
55.5
26.1
—
1.5
—
0
5
7
57
1.25
0.19
4.1
3.6
—
—
—
0
0
27
246
1.15
0.18
14.1
10.8
0.0
0.0
e9/l
0.71
21
206
7
88
0.77
0.15
2.6
2.1
—
—
—
0
0
22
200
1.14
0.14
4.0
3.2
—
—
—
0
0
13
113
1.18
0.14
4.5
3.0
14.9
132.4
ng/l
1.35
13
97
16
143
1.15
0.13
8.2
6.4
—
—
—
0
0
10
86
1.19
0.11
1.1
1.3
—
—
—
0
0
5
47
1.07
0.09
1.0
1.6
—
—
—
0
0
16
174
0.90
0.08
2.2
3.2
—
—
—
0
0
22
206
1.10
0.08
2.0
2.1
—
—
—
0
0
14
128
1.12
0.07
4.0
4.0
—
—
—
0
0
44
453
0.93
0.06
27.7
17.2
38.0
38.6
%
0.13
27
284
12
110
1.11
0.05
2.2
2.6
0.9
0.8
mmol/l
0.46
12
100
11
103
1.08
0.02
1.5
1.3
1.1
1.3
u/ml
—
6
26
23
223
1.05
0.01
3.1
3.9
182.1
52.6
e6/l
0.63
15
164
20
202
0.99
0.00
2.8
3.3
17.4
51.8
e6/l
1.07
15
159
0
5
0.00
0.00
0.0
1.4
—
293.8
—
0
5
0
7
0.00
0.00
0.0
2.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
4.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
5.0
—
58.2
—
0
5
0
7
0.00
0.00
0.0
2.1
—
9.9
—
0
7
0
5
0.00
0.00
0.0
1.2
—
6.2
—
0
5
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
5
51
0.98
0.00
1.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
0
5
0.00
0.00
0.0
3.6
—
8.8
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
4.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint L12_PEMPHIKELA and mortality.

Females

Parameter HR [95% CI] p-value
L12_PEMPHIKELA 1.276 [0.98, 1.66] 0.067
Birth year 0.998 [0.99, 1.01] 0.707

During the follow-up period (1.1.1998 — 31.12.2019), 108 out of 247 females with L12_PEMPHIKELA died.

Males

Parameter HR [95% CI] p-value
L12_PEMPHIKELA 1.912 [1.27, 2.89] 0.002
Birth year 0.989 [0.98, 1.0] 0.016

During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 176 males with L12_PEMPHIKELA died.

Mortality risk

Mortality risk for people of age

years, who have L12_PEMPHIKELA.

N-year risk Females Males
1 0.133% 0.453%
5 0.775% 2.226%
10 2.036% 5.532%
15 4.081% 10.457%
20 7.01% 17.319%

Relationships between endpoints

Index endpoint: L12_PEMPHIKELA – Severe bullous disorders, KELA reimbursement

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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