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 |
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. |
116 |
4. Check minimum number of eventsNone |
116 |
5. Include endpointsNone |
116 |
6. Filter based on genotype QC (FinnGen only) |
111 |
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 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 | 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 | 111 | 88 | 23 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.01 |
| Median age at first event (years) | 56.44 | 56.18 | 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
- 116
- Matched controls
- 1160
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L94.9
ICD-10 Finland
Localized connective tissue disorder, unspecified
+∞
79.6
67
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
23.7
62.7
56
44
L94.8
ICD-10 Finland
Other specified localized connective tissue disorders
+∞
62.2
54
*
P01BA02
ATC
hydroxychloroquine; oral
9.6
27.5
40
60
L94.0
ICD-10 Finland
Localized scleroderma [morphea]
253.7
21.3
21
*
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
74.9
17.3
19
*
L04AX01
ATC
azathioprine; systemic
24.3
15.8
22
11
L98.4
ICD-10 Finland
Chronic ulcer of skin, not elsewhere classified
65.7
15.2
17
*
A46
ICD-10 Finland
Erysipelas
5.3
13.4
33
81
L04AX03
ATC
methotrexate; systemic
5.7
12.9
28
61
M32.9
ICD-10 Finland
Systemic lupus erythematosus, unspecified
39.4
11.6
14
*
D07AC13
ATC
mometasone; topical
3.9
11.4
53
208
202
Kela drug reimbursment
Connective tissue diseases, rheumatoid arthritis and comparable disease
5.0
11.3
29
73
M34.9
ICD-10 Finland
Systemic sclerosis, unspecified
+∞
10.6
10
*
E0000UV, ,
ATC
3.6
10.5
69
335
XX9XE
NOMESCO Finland
Other ultrasound examination
44.1
10.2
12
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.5
9.8
71
363
D07AD01
ATC
clobetasol; topical
4.0
9.5
33
104
M35.9
ICD-10 Finland
Systemic involvement of connective tissue, unspecified
20.7
9.2
13
7
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
12.2
9.1
16
15
D07AC01
ATC
betamethasone; topical
3.3
9.0
57
265
L95.9
ICD-10 Finland
Vasculitis limited to skin, unspecified
96.8
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
8.3
63
322
L04AA01
ATC
[U] ciclosporin
36.1
8.2
10
*
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
4.4
7.6
21
55
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
6.5
7.5
19
34
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
5.1
7.5
17
38
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
TNX10
NOMESCO Finland
Arthrocentesis, unspecified region, unspecified region
4.9
7.2
17
39
E000001, ,
ATC
3.3
7.2
34
130
S97
ICPC
Chronic ulcer skin
6.5
7.1
18
32
M13.9
ICD-10 Finland
Arthritis, unspecified
4.8
7.0
17
40
H02AB07
ATC
prednisone; oral
3.7
6.9
25
80
D02AE01
ATC
carbamide; topical
6.4
6.8
17
30
L04AA06
ATC
mycophenolic acid; systemic
13.3
6.7
11
9
S18
ICPC
Laceration/cut
2.7
6.6
66
378
RD210, ,
NOMESCO Finland
73.7
6.5
7
*
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
4.3
6.4
18
48
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
3.8
6.4
21
63
R21
ICD-10 Finland
Rash and other nonspecific skin eruption
6.2
6.3
16
29
SPAT1148
SPAT
Treatment of chronic ulcer or burn
3.5
6.2
24
80
L30.9
ICD-10 Finland
Dermatitis, unspecified
3.1
6.2
31
122
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
20
32
7.32
8.48
5.6
2.1
—
—
—
0
0
23
67
4.03
7.29
4.4
3.1
69.98
66.65
g/l
0.76
18
59
16
24
7.55
7.11
1.6
1.4
4.62
2.04
u/ml
—
5
8
86
552
3.16
7.07
18.4
8.1
3.70
4.02
e9/l
0.76
80
481
11
9
13.34
6.73
1.4
1.2
—
—
—
0
0
11
9
13.34
6.73
1.4
1.2
—
—
—
0
0
11
10
12.00
6.45
1.5
1.2
—
—
—
0
0
11
10
12.00
6.45
1.5
1.2
—
—
—
0
0
11
10
12.00
6.45
1.5
1.2
—
—
—
0
0
101
763
3.50
5.32
11.8
6.6
77.15
76.19
u/l
0.13
94
706
23
84
3.17
5.14
3.7
3.5
—
—
—
0
0
65
407
2.36
4.88
3.0
2.3
79.89
77.68
nmol/l
0.23
57
358
12
24
5.45
4.46
1.2
1.2
—
—
—
0
0
11
20
5.96
4.41
1.3
2.1
—
—
—
0
0
65
421
2.24
4.34
8.8
5.0
1.21
1.22
mmol/l
0.08
57
389
69
463
2.21
4.16
9.9
5.6
1.21
1.22
mmol/l
0.33
56
399
44
248
2.25
4.07
4.0
2.6
346.58
9071.88
umol/l
1.82
38
210
52
323
2.11
3.70
4.2
2.9
2.36
2.36
mmol/l
0.18
47
287
94
739
2.43
3.56
7.4
3.9
19.03
11.75
mm/h
3.29
89
678
70
494
2.05
3.45
4.0
3.6
0.00
0.00
estimate
-0.00
15
93
69
488
2.02
3.34
4.0
3.6
0.00
0.00
estimate
-0.00
15
104
6
7
8.95
3.30
1.7
5.3
—
—
—
0
0
12
35
3.70
3.22
3.4
2.6
—
—
—
0
0
45
277
2.02
3.19
3.0
3.0
835.04
1102.65
ng/l
0.39
39
236
59
400
1.97
3.18
6.5
3.7
35.59
35.76
g/l
0.09
53
378
21
95
2.48
3.13
3.7
2.7
30.50
28.62
u/l
0.20
16
79
6
8
7.83
3.09
1.8
1.4
—
—
—
0
0
68
489
1.94
3.03
5.3
4.9
0.00
0.00
estimate
-0.00
15
97
14
52
2.92
3.01
2.1
1.8
183.07
133.77
ng/l
0.23
14
46
5
5
10.36
3.00
1.0
1.0
—
—
—
0
0
8
17
4.97
2.97
1.4
1.8
—
—
—
0
0
7
13
5.65
2.91
1.9
1.1
—
—
—
0
0
6
9
6.96
2.90
2.0
1.3
—
—
—
0
0
6
9
6.96
2.90
2.0
1.3
—
—
—
0
0
6
9
6.96
2.90
1.8
1.3
—
—
—
0
0
31
172
2.09
2.87
1.4
1.2
22.73
29.07
iu/ml
0.20
11
65
55
374
1.89
2.85
2.0
1.9
96.48
98.57
pmol/l
0.15
32
169
61
430
1.88
2.82
23.5
11.2
1.33
1.18
inr
0.45
16
134
9
24
3.97
2.73
1.3
1.1
—
—
—
0
0
8
19
4.44
2.73
1.3
1.1
—
—
—
0
0
7
15
4.89
2.64
1.9
1.2
—
—
—
0
0
5
7
7.40
2.57
2.0
1.4
—
—
—
0
0
5
7
7.40
2.57
2.0
1.4
—
—
—
0
0
5
7
7.40
2.57
2.0
1.4
—
—
—
0
0
5
7
7.40
2.57
1.4
1.4
—
—
—
0
0
30
171
2.02
2.57
1.2
1.2
3.75
10.22
u/ml
1.12
11
74
7
16
4.58
2.51
1.7
1.1
—
—
—
0
0
7
16
4.58
2.51
1.9
1.2
—
—
—
0
0
14
58
2.61
2.48
1.1
1.3
—
—
—
0
0
5
8
6.47
2.39
1.0
1.1
—
—
—
0
0
5
8
6.47
2.39
1.0
1.5
—
—
—
0
0
37
239
1.80
2.16
1.9
1.5
18.59
21.37
nmol/l
0.61
32
194
5
10
5.17
2.09
5.2
1.0
—
—
—
0
0
5
10
5.17
2.09
1.4
1.3
—
—
—
0
0
7
20
3.65
2.09
1.1
1.5
—
—
—
0
0
11
44
2.66
2.08
2.6
2.2
34.45
44.56
u/l
1.33
11
39
36
233
1.79
2.08
3.3
2.1
—
—
—
0
0
48
340
1.70
2.02
6.2
2.9
—
—
—
0
0
10
39
2.71
2.00
2.1
2.9
25.15
24.57
mmol/l
—
10
39
26
155
1.87
1.94
3.3
2.9
2.68
3.45
e6/l
0.18
19
87
39
270
1.67
1.75
4.0
3.7
0.00
0.00
estimate
-0.00
15
96
102
909
2.01
1.67
6.4
4.9
2.00
1.84
mu/l
0.76
92
831
88
755
1.69
1.59
5.8
4.1
14.90
14.94
pmol/l
0.06
79
689
8
33
2.53
1.57
1.6
1.5
—
—
—
0
0
5
15
3.43
1.54
1.4
1.1
—
—
—
0
0
6
21
2.95
1.52
1.5
1.6
—
—
—
0
0
31
209
1.66
1.52
1.5
1.3
0.50
1.53
u/ml
—
8
59
7
29
2.50
1.41
2.3
1.4
—
—
—
0
0
23
148
1.69
1.33
5.4
2.4
0.77
0.81
mmol/l
0.54
23
136
5
18
2.85
1.30
2.2
2.3
19.04
26.31
mmol/l
—
5
18
40
299
1.52
1.25
3.0
2.9
32.60
28.90
u/l
0.38
40
285
106
978
1.97
1.24
24.9
12.5
23.63
21.81
mg/l
0.21
90
742
19
122
1.67
1.11
11.2
8.2
—
—
—
0
0
24
164
1.58
1.11
3.1
2.8
0.41
0.89
e6/l
1.24
17
95
30
218
1.51
1.06
2.5
1.8
0.54
0.86
mg/l
2.15
23
174
36
272
1.47
1.06
3.9
3.0
0.23
0.55
e6/l
0.94
29
201
5
22
2.33
1.04
1.0
1.1
—
—
—
0
0
73
632
1.42
1.00
3.3
2.9
64.35
44.66
u/l
1.06
65
592
17
114
1.58
0.85
8.4
4.5
104.06
104.09
mmol/l
0.01
17
114
6
32
1.92
0.83
1.8
1.4
—
—
—
0
0
6
33
1.86
0.80
1.2
1.2
—
—
—
0
0
6
33
1.86
0.80
1.2
1.2
—
—
—
0
0
0
24
0.00
0.80
0.0
1.6
—
—
—
0
0
0
24
0.00
0.80
0.0
1.6
—
—
—
0
0
0
24
0.00
0.80
0.0
1.6
—
—
—
0
0
0
27
0.00
0.78
0.0
1.7
—
—
—
0
0
5
23
2.22
0.77
2.0
1.8
—
—
—
0
0
55
472
1.31
0.72
3.1
2.3
—
—
—
0
0
8
49
1.68
0.63
1.4
1.4
—
—
—
0
0
19
141
1.42
0.61
1.9
1.6
—
—
—
0
0
8
52
1.58
0.61
1.4
1.5
—
—
—
0
0
15
203
0.70
0.58
1.7
1.4
—
—
—
0
0
23
183
1.32
0.50
1.7
1.5
—
—
—
0
0
12
85
1.46
0.49
3.6
2.7
53.00
61.85
ml/min/173m2
—
6
33
107
1033
1.46
0.46
20.2
9.7
26.87
24.84
u/l
0.66
102
992
44
386
1.23
0.44
4.0
3.6
22.38
40.78
ng/l
0.84
33
260
8
55
1.49
0.44
1.1
1.5
—
—
—
0
0
33
282
1.24
0.42
6.6
3.6
17.30
10.28
mg/mmol
0.25
20
174
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.9
—
—
—
0
0
43
380
1.21
0.40
4.1
3.6
—
—
—
0
0
15
116
1.34
0.39
4.7
4.8
38.70
33.01
%
—
10
70
6
41
1.49
0.36
1.5
1.3
—
—
—
0
0
97
933
1.24
0.32
23.1
12.2
83.39
80.93
ml/min/173m2
0.55
85
739
95
912
1.23
0.32
4.8
3.8
1.23
1.25
mmol/l
0.15
90
833
95
912
1.23
0.32
7.3
5.3
39.80
39.36
mmol/mol
0.13
87
848
11
84
1.34
0.31
1.2
1.8
—
—
—
0
0
100
967
1.25
0.29
5.3
4.9
2.53
2.75
mmol/l
1.68
94
887
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
98
953
1.18
0.21
5.1
4.3
4.56
4.73
mmol/l
0.85
92
876
0
14
0.00
0.20
0.0
4.4
—
95.64
—
0
14
97
946
1.15
0.17
5.1
4.3
1.54
1.55
mmol/l
0.09
92
867
12
102
1.20
0.16
2.7
4.0
5.03
8.19
ug/l
—
7
84
9
107
0.83
0.13
4.3
4.7
1.26
1.27
mmol/l
—
9
85
17
152
1.14
0.13
4.2
4.7
1.64
1.78
ug/l
0.10
17
135
11
95
1.17
0.12
1.5
1.5
1.74
1.39
%
0.75
11
82
5
61
0.81
0.08
6.0
5.2
0.60
0.67
%
—
5
61
5
62
0.80
0.08
6.0
5.1
1.18
1.53
%
—
5
62
93
944
0.93
0.07
5.5
4.4
5.92
5.87
mmol/l
0.12
85
860
107
1076
0.93
0.07
39.3
18.5
38.91
39.81
%
0.87
102
1010
8
91
0.87
0.07
2.6
2.0
—
—
—
0
0
11
101
1.10
0.04
1.8
1.6
—
—
—
0
0
11
101
1.10
0.04
2.2
1.6
—
—
—
0
0
60
589
1.04
0.04
2.9
3.0
—
—
—
0
0
12
127
0.94
0.02
4.0
3.7
25.47
23.39
%
—
7
59
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
50
1.00
-0.00
5.4
4.8
24.82
24.44
mmol/l
—
5
50
5
50
1.00
-0.00
3.0
1.7
—
—
—
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
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
8
82
0.97
-0.00
2.4
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
14.14
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
29.85
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
121.00
—
0
6
(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
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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