epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
54 |
4. Check minimum number of eventsNone |
54 |
5. Include endpointsNone |
54 |
6. Filter based on genotype QC (FinnGen only) |
54 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q8
- Name in latin
- Epidermolysis bullosa
Similar endpoints
↥List of similar endpoints to
Epidermolysis bullosa
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 489 | 266 | 222 |
| Only index persons | 416 | 226 | 190 |
| 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 | 22.22 | 27.80 | 15.49 |
| Only index persons | 22.99 | 28.57 | 16.35 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 54 | 33 | 21 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 27.18 | 34.31 | 15.99 |
-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
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
- 54
- Matched controls
- 540
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q81.0
ICD-10 Finland
Epidermolysis bullosa simplex
+∞
26.2
23
*
Q81.9
ICD-10 Finland
Epidermolysis bullosa, unspecified
+∞
15.3
14
*
Q81.2
ICD-10 Finland
Epidermolysis bullosa dystrophica
+∞
13.0
12
*
Q81.1
ICD-10 Finland
Epidermolysis bullosa letalis
+∞
13.0
12
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
15.6
9.9
16
14
Q81.8
ICD-10 Finland
Other epidermolysis bullosa
+∞
9.7
9
*
Z31.5
ICD-10 Finland
Genetic counselling
10.1
7.2
14
18
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
12
22
6.69
4.95
19.9
7.0
116.92
121.41
g/l
0.34
12
22
13
27
5.99
4.89
18.5
6.9
10.92
15.36
kpa
2.03
13
27
13
27
5.99
4.89
18.5
6.9
5.05
5.25
kpa
0.28
13
27
9
13
8.05
4.36
21.7
9.7
22.80
24.58
mmol/l
—
9
13
29
147
3.10
4.03
19.8
10.7
1.06
1.17
inr
—
7
47
9
17
6.12
3.69
8.0
5.9
0.61
0.78
%
—
9
17
9
17
6.12
3.69
8.0
5.9
1.19
1.24
%
—
9
17
6
9
7.33
2.95
2.5
1.4
—
—
—
0
0
31
203
2.24
2.15
3.9
3.2
0.00
0.00
estimate
—
8
39
7
20
3.86
2.13
1.6
2.3
—
—
—
0
0
31
204
2.22
2.12
3.8
3.2
0.00
0.00
estimate
—
8
35
13
58
2.63
2.11
1.7
2.0
—
—
—
0
0
23
137
2.18
1.98
3.2
3.8
—
—
—
0
0
19
105
2.25
1.95
3.9
3.3
0.00
0.00
estimate
—
8
39
25
156
2.12
1.90
12.0
7.3
35.26
37.17
g/l
0.97
25
149
30
201
2.11
1.89
5.3
4.6
0.00
0.00
estimate
—
8
38
10
40
2.83
1.78
9.7
9.5
103.90
104.02
mmol/l
—
10
40
10
41
2.76
1.76
1.6
1.9
—
—
—
0
0
10
42
2.69
1.73
1.9
1.8
—
—
—
0
0
6
19
3.42
1.71
3.5
9.8
92.00
100.21
%
—
6
19
26
174
1.95
1.57
4.2
2.7
—
—
—
0
0
7
28
2.72
1.51
5.0
3.7
—
—
—
0
0
5
16
3.33
1.47
3.8
11.4
3.26
2.84
g/l
—
5
16
19
118
1.94
1.39
2.8
2.9
21.14
20.14
ng/l
0.04
14
60
13
70
2.13
1.38
3.1
2.3
60.83
74.18
ng/l
—
6
39
5
105
0.42
1.17
1.4
2.3
—
—
—
0
0
23
161
1.75
1.13
21.8
10.3
1.18
1.22
mmol/l
2.28
23
150
11
60
2.05
1.12
1.6
1.6
445.00
521.82
pmol/l
0.43
11
55
7
33
2.28
1.10
1.6
1.4
—
—
—
0
0
49
438
2.28
1.03
27.6
13.0
3.83
3.92
mmol/l
1.17
49
429
49
437
2.31
1.03
27.3
12.7
139.02
139.74
mmol/l
1.40
49
429
9
51
1.92
1.00
7.6
13.1
5.50
5.73
kpa
—
9
51
14
89
1.77
0.92
5.0
2.5
—
—
—
0
0
8
43
2.01
0.92
1.8
4.8
191.38
256.05
u/l
—
8
43
5
99
0.46
0.88
1.4
2.1
—
—
—
0
0
22
164
1.58
0.80
3.7
2.8
—
—
—
0
0
9
56
1.73
0.77
2.3
2.9
2.42
2.42
mmol/l
—
9
46
49
449
1.98
0.75
22.3
12.8
28.88
20.52
mg/l
0.82
40
310
7
40
1.86
0.75
14.7
15.5
24.67
24.95
mmol/l
—
7
40
5
30
1.73
0.63
1.4
2.0
23.64
23.73
iu/l
—
5
23
0
19
0.00
0.61
0.0
1.1
—
—
—
0
0
0
19
0.00
0.61
0.0
1.5
—
2.57
—
0
14
43
387
1.55
0.56
3.7
3.5
1.44
1.49
mmol/l
0.37
43
369
6
39
1.60
0.55
7.7
13.7
24.00
23.59
mmol/l
—
6
39
43
390
1.50
0.50
3.9
3.6
4.70
4.68
mmol/l
0.04
43
374
7
47
1.56
0.50
2.3
1.5
1381.00
1138.66
nmol/l
—
7
34
43
391
1.49
0.49
4.3
3.8
2.94
2.83
mmol/l
0.28
43
374
17
135
1.38
0.42
3.3
3.8
2.32
2.35
mmol/l
0.41
17
124
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
0
16
0.00
0.42
0.0
1.3
—
—
—
0
0
5
35
1.47
0.40
11.2
5.4
—
—
—
0
0
5
76
0.62
0.39
1.4
2.2
1.96
1.37
%
—
5
71
20
168
1.30
0.34
3.2
3.3
69.93
72.80
nmol/l
0.15
20
155
42
391
1.33
0.31
3.5
3.5
—
—
—
0
0
10
77
1.37
0.28
1.1
1.6
17.79
20.78
nmol/l
—
10
66
33
305
1.21
0.22
4.6
4.0
60.27
39.79
u/l
0.60
33
294
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
51.78
—
0
11
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
5.72
—
0
5
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
7
62
1.15
0.18
1.4
2.2
379.71
346.00
nmol/l
—
7
56
10
83
1.25
0.17
2.2
4.4
323.80
329.47
umol/l
—
10
77
16
141
1.19
0.16
2.0
1.5
—
—
—
0
0
5
45
1.12
0.10
1.8
1.7
—
—
—
0
0
39
383
1.07
0.02
12.4
9.7
86.16
93.82
ml/min/173m2
0.84
30
287
35
352
0.98
0.00
4.1
4.1
35.30
37.97
mmol/mol
1.98
35
335
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
5
0.00
-0.00
0.0
1.0
—
139.60
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
2.40
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
92.40
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
74
0.94
-0.00
1.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
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
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
394.20
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
102.50
—
0
6
Mortality – FinRegistry
↥Association
Association between endpoint Q17_EPIDERMOL_BULLOSA and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_EPIDERMOL_BULLOSA.| 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: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
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
Loading data