connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.
Other and unspecified localized connective tissue disorders
DOID EFO Endpoint Browser PheWeb
L12_LOCALCONNECTISSUENAS
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
123 |
4. Check minimum number of eventsNone |
123 |
5. Include endpointsNone |
123 |
6. Filter based on genotype QC (FinnGen only) |
112 |
Control definitions (FinnGen only)
- Control exclude
- L12_OTHERSKINSUBCUTIS
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Other and unspecified localized connective tissue disorders
based on the number of shared cases.
Similar with more cases:
- Other localized connective tissue disorders
- Other disorders of skin and subcutaneous tissue
- Diseases of the skin and subcutaneous tissue
- Any operation in hilmo
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 731 | 517 | 209 |
| Only index persons | 668 | 476 | 192 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 57.42 | 58.15 | 55.57 |
| Only index persons | 56.17 | 56.81 | 54.57 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 112 | 89 | 23 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.01 |
| Median age at first event (years) | 56.28 | 55.98 | 57.43 |
-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
- 117
- Matched controls
- 1170
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L94.9
ICD-10 Finland
Localized connective tissue disorder, unspecified
1611.7
80.4
69
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
25.4
67.5
59
45
L94.8
ICD-10 Finland
Other specified localized connective tissue disorders
+∞
60.8
53
*
P01BA02
ATC
hydroxychloroquine; oral
10.3
29.7
41
58
L94.0
ICD-10 Finland
Localized scleroderma [morphea]
253.2
21.3
21
*
L04AX01
ATC
azathioprine; systemic
24.2
15.8
22
11
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
37.3
15.4
19
6
L04AX03
ATC
methotrexate; systemic
6.4
15.3
30
60
L98.4
ICD-10 Finland
Chronic ulcer of skin, not elsewhere classified
49.2
14.5
17
*
A46
ICD-10 Finland
Erysipelas
5.2
13.6
35
89
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
5.4
13.2
31
73
D07AC13
ATC
mometasone; topical
4.0
12.2
55
213
M32.9
ICD-10 Finland
Systemic lupus erythematosus, unspecified
39.3
11.6
14
*
M35.9
ICD-10 Finland
Systemic involvement of connective tissue, unspecified
28.4
11.5
15
6
E0000UV, ,
ATC
3.8
11.3
71
339
S97
ICPC
Chronic ulcer skin
6.5
11.1
20
36
XX9XE
NOMESCO Finland
Other ultrasound examination
66.2
10.8
12
*
M34.9
ICD-10 Finland
Systemic sclerosis, unspecified
+∞
10.6
10
*
D07AD01
ATC
clobetasol; topical
4.0
9.9
35
112
D07AC01
ATC
betamethasone; topical
3.4
9.9
60
275
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.4
9.4
75
401
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
13.0
9.4
16
14
M13.9
ICD-10 Finland
Arthritis, unspecified
5.6
8.7
18
37
L95.9
ICD-10 Finland
Vasculitis limited to skin, unspecified
96.7
8.5
9
*
QDG20
NOMESCO Finland
Operation for chronic ulcer or fistula of skin of lower limb
+∞
8.4
8
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.1
8.4
65
335
L04AA01
ATC
[U] ciclosporin
36.1
8.2
10
*
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
6.9
8.1
20
34
H02AB07
ATC
prednisone; oral
3.9
7.8
26
79
L93.0
ICD-10 Finland
Discoid lupus erythematosus
+∞
7.4
7
*
I83.0
ICD-10 Finland
Varicose veins of lower extremities with ulcer
21.7
7.3
10
5
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
4.0
7.1
23
68
TNX10
NOMESCO Finland
Arthrocentesis, unspecified region, unspecified region
4.8
7.0
17
40
D02AE01
ATC
carbamide; topical
6.7
6.9
17
29
E000001, ,
ATC
3.1
6.6
34
136
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
3.8
6.5
22
67
RD210, ,
NOMESCO Finland
73.7
6.5
7
*
L04AA06
ATC
mycophenolic acid; systemic
12.0
6.4
11
10
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
4.4
6.2
17
44
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
3.8
6.0
20
60
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
30
44
8.82
20.62
4.9
1.9
4.72
6.47
iu/ml
—
8
13
15
12
14.12
9.16
1.5
1.3
—
—
—
0
0
13
12
12.01
7.51
1.4
1.3
—
—
—
0
0
12
10
13.20
7.26
1.3
1.3
—
—
—
0
0
17
28
6.91
7.09
1.7
1.3
4.62
2.19
u/ml
—
5
10
12
11
11.99
6.97
1.5
1.4
—
—
—
0
0
12
11
11.99
6.97
1.4
1.3
—
—
—
0
0
12
11
11.99
6.97
1.4
1.3
—
—
—
0
0
25
81
3.65
6.80
4.3
2.9
69.59
66.87
g/l
0.62
19
74
89
593
3.09
6.58
20.1
8.9
3.68
4.00
e9/l
0.80
81
513
10
7
15.45
6.52
1.4
1.0
—
—
—
0
0
17
32
6.03
6.46
1.5
1.2
—
—
—
0
0
77
517
2.43
4.92
10.1
6.2
1.21
1.22
mmol/l
0.48
65
451
48
264
2.39
4.83
3.9
2.8
341.52
329.43
umol/l
0.34
42
229
54
317
2.31
4.64
3.4
3.2
833.03
1088.85
ng/l
0.42
48
266
46
253
2.35
4.58
3.7
2.2
2.99
2.82
mg/l
0.23
41
219
103
809
3.28
4.54
13.3
7.6
77.19
76.40
u/l
0.11
98
757
12
24
5.44
4.46
1.2
2.1
—
—
—
0
0
71
473
2.27
4.44
9.3
5.7
1.21
1.21
mmol/l
0.01
64
442
71
479
2.23
4.23
3.4
2.6
78.96
79.20
nmol/l
0.02
62
435
12
26
5.02
4.19
2.2
2.8
13.60
10.12
mg/l
0.58
12
26
23
96
2.74
4.04
3.9
3.4
—
—
—
0
0
80
574
2.25
4.00
4.5
3.7
0.00
0.00
estimate
-0.00
16
126
15
49
3.36
3.97
2.5
2.2
36.33
44.19
u/l
0.95
15
43
81
585
2.25
3.97
4.7
3.7
0.00
0.00
estimate
-0.00
16
119
80
580
2.20
3.81
4.7
3.7
0.00
12.89
estimate
0.50
17
126
67
455
2.11
3.77
7.2
4.1
36.05
36.00
g/l
0.02
61
432
66
448
2.09
3.69
2.3
2.1
102.07
98.86
pmol/l
0.24
40
215
57
371
2.05
3.53
6.0
3.2
—
—
—
0
0
8
15
5.64
3.25
1.8
1.1
—
—
—
0
0
16
63
2.78
3.11
1.2
1.4
—
—
—
0
0
6
8
7.83
3.09
1.7
6.3
319.67
962.50
mg
—
6
8
5
5
10.36
3.00
1.0
1.0
—
—
—
0
0
35
201
2.06
2.97
1.5
1.3
22.73
27.99
iu/ml
0.16
11
73
9
22
4.34
2.95
1.3
1.6
—
—
—
0
0
6
9
6.95
2.90
1.0
1.6
—
—
—
0
0
9
23
4.15
2.84
1.7
1.2
—
—
—
0
0
48
315
1.89
2.75
4.2
3.8
0.00
0.00
estimate
-0.00
15
114
42
264
1.92
2.74
3.4
2.2
—
—
—
0
0
6
10
6.25
2.73
1.8
1.3
—
—
—
0
0
8
20
4.21
2.62
1.8
1.2
—
—
—
0
0
6
11
5.68
2.57
1.8
1.3
—
—
—
0
0
10
32
3.32
2.50
1.3
1.2
—
—
—
0
0
32
189
1.95
2.47
1.3
1.3
3.30
9.59
u/ml
1.22
13
80
8
22
3.82
2.41
1.3
1.1
—
—
—
0
0
5
8
6.47
2.39
2.0
1.4
—
—
—
0
0
5
8
6.47
2.39
2.0
1.4
—
—
—
0
0
5
8
6.47
2.39
2.0
1.4
—
—
—
0
0
47
319
1.79
2.35
2.2
1.7
18.12
21.44
nmol/l
0.96
41
266
8
23
3.65
2.31
1.8
2.2
21.68
25.52
mmol/l
—
8
23
30
180
1.90
2.20
3.5
3.2
2.84
3.48
e6/l
0.15
19
88
7
19
3.85
2.18
2.1
1.1
—
—
—
0
0
5
10
5.17
2.09
2.2
1.1
—
—
—
0
0
45
311
1.73
2.07
3.8
3.3
0.57
0.56
e6/l
0.01
35
220
13
57
2.44
2.06
2.0
2.0
131.54
149.87
ng/l
0.09
13
51
37
242
1.77
2.06
2.5
1.8
1.29
1.17
mg/l
0.10
31
194
9
32
2.96
2.05
1.6
1.5
—
—
—
0
0
7
21
3.48
2.00
1.1
1.6
—
—
—
0
0
6
16
3.89
1.96
1.3
1.3
—
—
—
0
0
9
34
2.78
1.91
2.2
1.6
—
—
—
0
0
6
17
3.66
1.86
1.3
1.1
—
—
—
0
0
7
24
3.03
1.75
1.4
1.6
—
—
—
0
0
110
1010
2.49
1.70
28.2
14.7
23.75
22.10
mg/l
0.21
97
815
6
19
3.27
1.68
1.3
1.3
—
—
—
0
0
5
14
3.68
1.63
6.4
1.1
—
—
—
0
0
25
157
1.75
1.57
1.8
1.7
—
—
—
0
0
46
340
1.58
1.56
3.0
3.1
31.07
28.55
u/l
0.28
46
322
29
194
1.66
1.46
3.2
3.1
0.50
0.85
e6/l
0.85
18
102
63
510
1.51
1.37
3.3
2.6
—
—
estimate
—
0
0
5
18
2.85
1.30
1.4
1.3
—
—
—
0
0
92
814
1.61
1.28
6.4
4.7
14.96
14.96
pmol/l
0.00
85
748
12
64
1.98
1.23
3.3
2.6
25.21
24.58
mmol/l
0.29
12
64
26
177
1.60
1.22
5.5
2.4
0.77
0.81
mmol/l
0.60
26
164
7
31
2.34
1.12
1.7
1.5
—
—
—
0
0
105
970
1.80
1.12
7.5
5.6
1.91
1.85
mu/l
0.24
96
895
19
122
1.67
1.11
11.2
8.2
—
—
—
0
0
21
142
1.58
1.01
7.5
5.2
104.62
104.28
mmol/l
0.12
21
142
34
260
1.43
0.93
1.5
1.3
0.51
1.97
u/ml
—
9
69
6
28
2.20
0.93
1.8
2.5
—
—
—
0
0
10
56
1.86
0.91
1.4
1.6
—
—
—
0
0
50
415
1.36
0.84
4.7
3.9
24.86
38.88
ng/l
0.63
39
285
6
34
1.80
0.77
1.2
1.2
—
—
—
0
0
6
34
1.80
0.77
1.2
1.2
—
—
—
0
0
15
102
1.54
0.72
4.3
2.8
2.89
1.80
mmol/l
0.74
15
89
104
985
1.50
0.64
26.8
14.9
82.13
80.67
ml/min/173m2
0.28
97
903
5
30
1.70
0.62
1.2
1.1
—
—
—
0
0
10
64
1.62
0.61
4.3
6.3
24.01
24.52
mmol/l
—
10
64
0
23
0.00
0.59
0.0
2.0
—
—
—
0
0
8
54
1.52
0.58
1.4
1.4
—
—
—
0
0
6
39
1.57
0.54
1.5
1.3
—
—
—
0
0
17
127
1.40
0.53
5.2
5.0
38.90
33.30
%
—
10
73
75
687
1.26
0.52
3.8
3.2
58.70
43.72
u/l
0.85
69
653
25
202
1.30
0.49
1.7
1.7
—
—
—
0
0
15
113
1.38
0.45
1.9
1.7
—
—
—
0
0
67
612
1.22
0.45
2.9
3.1
—
—
—
0
0
8
55
1.49
0.44
1.1
1.5
—
—
—
0
0
16
123
1.35
0.43
1.6
1.7
—
—
—
0
0
48
426
1.21
0.43
4.3
3.5
0.00
0.00
estimate
-0.00
14
101
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
18
222
0.78
0.39
2.0
1.4
—
—
—
0
0
39
344
1.20
0.36
7.0
3.9
14.87
10.33
mg/mmol
0.19
21
208
14
110
1.31
0.33
3.0
4.5
4.60
9.15
ug/l
—
8
89
7
52
1.37
0.32
2.3
2.1
—
—
—
0
0
12
93
1.32
0.31
3.2
3.0
53.00
61.92
ml/min/173m2
—
6
39
35
313
1.17
0.27
4.4
3.1
0.00
0.00
estimate
-0.00
13
100
40
437
0.87
0.25
2.2
2.0
1.23
1.33
mmol/l
0.69
34
370
5
39
1.29
0.23
1.6
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
5.4
—
100.29
—
0
14
9
78
1.17
0.16
2.8
1.3
—
—
—
0
0
99
968
1.15
0.16
8.3
6.1
39.51
38.82
mmol/mol
0.24
91
907
99
1006
0.90
0.10
6.2
4.9
1.53
1.55
mmol/l
0.15
94
928
18
164
1.12
0.10
5.1
5.3
1.99
1.73
ug/l
0.19
18
143
6
56
1.08
0.09
9.0
3.1
53.27
50.30
%
—
6
56
7
64
1.10
0.08
2.9
2.3
—
—
—
0
0
8
73
1.10
0.08
5.2
6.4
0.64
0.65
%
—
8
73
8
76
1.06
0.07
5.2
6.3
1.21
1.42
%
—
8
76
9
88
1.02
0.07
5.3
2.2
0.33
0.20
e6/l
—
9
82
100
1012
0.92
0.06
6.2
5.0
4.49
4.70
mmol/l
1.44
94
936
98
992
0.93
0.06
6.3
4.9
5.90
5.84
mmol/l
0.15
89
911
10
92
1.10
0.03
2.8
1.9
—
—
—
0
0
11
103
1.08
0.02
1.7
2.2
3.48
3.21
ratio
0.68
11
85
14
133
1.06
0.01
3.9
4.0
22.54
23.16
%
—
8
61
103
1023
1.06
0.01
6.5
5.8
2.47
2.70
mmol/l
2.19
97
949
11
116
0.94
0.01
1.7
1.5
1.75
1.38
%
0.80
11
99
96
957
1.02
0.00
5.4
4.1
1.25
1.24
mmol/l
0.07
91
877
10
102
0.98
0.00
3.0
2.2
—
—
—
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
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
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
—
138.80
—
0
5
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.5
—
13.62
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
44.78
—
0
6
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
117.71
—
0
7
0
6
0.00
-0.00
0.0
1.3
—
29.85
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
57.17
—
0
6
Mortality – FinRegistry
↥Association
Association between endpoint L12_LOCALCONNECTISSUENAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_LOCALCONNECTISSUENAS | 2.205 [1.66, 2.92] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.115 |
During the follow-up period (1.1.1998 — 31.12.2019), 126 out of 480 females with L12_LOCALCONNECTISSUENAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_LOCALCONNECTISSUENAS | 3.039 [1.96, 4.7] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.013 |
During the follow-up period (1.1.1998 — 31.12.2019), 61 out of 193 males with L12_LOCALCONNECTISSUENAS died.
Mortality risk
Mortality risk for people of age
years, who have L12_LOCALCONNECTISSUENAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.166% | 0.67% |
| 5 | 1.212% | 3.887% |
| 10 | 3.173% | 9.209% |
| 15 | 5.842% | 17.341% |
| 20 | 9.921% | 27.853% |
Relationships between endpoints
↥Index endpoint: L12_LOCALCONNECTISSUENAS – Other and unspecified localized connective tissue disorders
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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