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
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
115 |
4. Check minimum number of eventsNone |
115 |
5. Include endpointsNone |
115 |
6. Filter based on genotype QC (FinnGen only) |
115 |
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 | 115 | 91 | 24 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.01 |
| Median age at first event (years) | 56.45 | 55.78 | 58.95 |
-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 (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
- 104
- Matched controls
- 1038
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
L94.9
ICD-10 Finland
Localized connective tissue disorder, unspecified
+∞
68.5
58
*
L94.8
ICD-10 Finland
Other specified localized connective tissue disorders
+∞
57.8
50
*
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
24.5
34.3
51
39
L94.0
ICD-10 Finland
Localized scleroderma [morphea]
+∞
20.5
19
*
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
100.6
16.1
17
*
P01BA02
ATC
hydroxychloroquine; oral
9.8
15.9
34
49
L98.4
ICD-10 Finland
Chronic ulcer of skin, not elsewhere classified
62.3
14.3
16
*
M32.9
ICD-10 Finland
Systemic lupus erythematosus, unspecified
147.0
12.7
13
*
D07AC13
ATC
mometasone; topical
4.2
10.2
50
188
XX9XE
NOMESCO Finland
Other ultrasound examination
+∞
9.5
9
*
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
13.3
9.4
16
14
E0000UV
ATC
NA
3.8
9.4
61
284
M35.9
ICD-10 Finland
Systemic involvement of connective tissue, unspecified
40.5
9.2
11
*
L04AX01
ATC
azathioprine; systemic
8.7
8.9
19
26
S97
ICPC
Chronic ulcer skin
10.9
8.6
16
17
L95.9
ICD-10 Finland
Vasculitis limited to skin, unspecified
+∞
8.4
8
*
M34.9
ICD-10 Finland
Systemic sclerosis, unspecified
+∞
8.4
8
*
QDG20
NOMESCO Finland
Operation for chronic ulcer or fistula of skin of lower limb
86.0
7.5
8
*
L30.9
ICD-10 Finland
Dermatitis, unspecified
4.1
7.3
30
93
L04AA01
ATC
[U] ciclosporin; systemic
21.9
7.3
10
5
L04AA06
ATC
mycophenolic acid; systemic
32.5
7.3
9
*
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
6.2
7.2
19
36
A46
ICD-10 Finland
Erysipelas
4.5
7.2
26
71
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.0
6.8
60
323
D02AE01
ATC
carbamide; topical
6.3
6.7
17
31
S18
ICPC
Laceration/cut
3.0
6.6
56
292
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.9
6.3
52
266
L93.0
ICD-10 Finland
Discoid lupus erythematosus
+∞
6.3
6
*
L95.8
ICD-10 Finland
Other vasculitis limited to skin
+∞
6.3
6
*
I83.0
ICD-10 Finland
Varicose veins of lower extremities with ulcer
13.7
6.2
10
8
NK4XE
NOMESCO Finland
Joint ultrasound examination not elsewhere classified
6.1
6.1
16
30
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
30
7.86
13.22
5.6
2.1
—
—
—
0
0
16
23
7.92
10.87
1.6
1.3
4.6
1.8
u/ml
—
5
7
10
10
10.86
8.77
1.3
1.2
—
—
—
0
0
10
10
10.86
8.77
1.3
1.2
—
—
—
0
0
10
11
9.86
8.21
1.4
1.2
—
—
—
0
0
10
11
9.86
8.21
1.4
1.2
—
—
—
0
0
10
11
9.86
8.21
1.4
1.2
—
—
—
0
0
85
544
3.16
7.04
17.8
8.1
3.7
4.0
e9/l
0.78
79
475
12
23
5.71
6.15
1.2
1.2
—
—
—
0
0
11
21
5.69
5.64
1.3
2.1
—
—
—
0
0
23
82
3.26
5.36
3.7
3.5
—
—
—
0
0
100
754
3.50
5.30
11.7
6.6
77.0
76.1
u/l
0.13
93
697
65
402
2.42
5.10
3.0
2.3
79.9
77.5
nmol/l
0.25
57
354
64
414
2.23
4.28
8.9
5.2
1.2
1.2
mmol/l
0.08
56
380
44
244
2.30
4.27
4.0
2.6
346.6
9284.2
umol/l
1.82
38
205
68
456
2.20
4.10
10.0
5.8
1.2
1.2
mmol/l
0.26
55
389
93
732
2.41
3.49
7.3
3.9
19.1
11.7
mm/h
3.31
88
672
51
322
2.05
3.43
3.5
2.9
2.4
2.4
mmol/l
0.26
45
284
69
486
2.05
3.43
4.0
3.6
0.0
0.0
estimate
0.00
15
92
68
477
2.04
3.41
3.9
3.6
0.0
0.0
estimate
0.00
13
97
6
7
8.96
3.30
1.7
5.9
—
—
—
0
0
8
16
5.29
3.11
1.4
1.8
—
—
—
0
0
6
8
7.83
3.09
1.8
1.4
—
—
—
0
0
7
12
6.13
3.07
1.9
1.1
—
—
—
0
0
11
35
3.37
3.02
3.6
2.6
—
—
—
0
0
14
52
2.93
3.01
2.1
1.8
183.1
135.7
ng/l
0.22
14
46
5
5
10.37
3.00
1.0
1.0
—
—
—
0
0
67
481
1.94
3.00
5.2
4.9
0.0
0.0
estimate
0.00
15
96
44
274
1.98
3.00
3.0
3.0
851.9
1098.1
ng/l
0.34
38
233
58
398
1.92
2.97
5.9
3.8
35.6
35.7
g/l
0.05
52
375
31
171
2.11
2.92
1.4
1.2
22.7
28.9
iu/ml
0.19
11
64
6
9
6.96
2.90
1.8
1.3
—
—
—
0
0
5
6
8.64
2.77
1.4
1.5
—
—
—
0
0
7
14
5.25
2.77
1.9
1.2
—
—
—
0
0
8
19
4.44
2.73
1.3
1.1
—
—
—
0
0
54
372
1.85
2.65
2.0
1.9
96.6
97.9
pmol/l
0.09
31
168
14
56
2.71
2.64
1.1
1.3
—
—
—
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
30
172
2.01
2.53
1.2
1.2
3.7
9.8
u/ml
1.04
11
74
7
16
4.58
2.51
1.7
1.1
—
—
—
0
0
5
8
6.47
2.39
1.0
1.5
—
—
—
0
0
5
8
6.47
2.39
1.0
1.1
—
—
—
0
0
37
235
1.85
2.30
1.9
1.5
18.6
21.3
nmol/l
0.58
32
191
5
9
5.75
2.23
1.4
1.3
—
—
—
0
0
7
19
3.85
2.19
1.1
1.6
—
—
—
0
0
8
25
3.36
2.14
1.3
1.1
—
—
—
0
0
5
10
5.17
2.09
5.2
1.0
—
—
—
0
0
47
332
1.70
1.99
6.3
2.9
—
—
—
0
0
39
265
1.71
1.89
4.0
3.8
0.0
0.0
estimate
0.00
15
95
35
231
1.74
1.88
3.3
2.1
—
—
—
0
0
25
150
1.85
1.83
3.4
2.8
2.8
3.1
e6/l
0.05
18
86
10
44
2.39
1.58
2.8
2.2
35.2
44.6
u/l
—
10
39
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
2.96
1.52
1.5
1.6
—
—
—
0
0
87
749
1.66
1.52
5.6
4.1
14.9
14.9
pmol/l
0.00
78
683
7
28
2.59
1.47
2.3
1.4
—
—
—
0
0
23
146
1.72
1.40
5.4
2.3
0.8
0.8
mmol/l
0.54
23
134
100
901
1.84
1.39
6.3
4.9
2.0
1.8
mu/l
0.55
90
822
30
208
1.60
1.31
1.4
1.3
0.5
1.5
u/ml
—
8
59
5
18
2.85
1.30
2.2
2.3
19.0
26.4
mmol/l
—
5
12
105
970
1.95
1.20
24.8
12.5
23.9
22.0
mg/l
0.22
89
737
19
121
1.68
1.14
11.2
8.1
—
—
—
0
0
5
22
2.33
1.04
2.0
1.9
—
—
—
0
0
5
22
2.33
1.04
1.0
1.1
—
—
—
0
0
39
301
1.45
1.03
2.7
2.9
32.5
28.7
u/l
0.38
39
287
23
159
1.56
1.01
3.2
2.6
0.4
0.8
e6/l
0.90
16
94
35
266
1.45
0.99
4.0
3.0
0.2
0.6
e6/l
1.27
27
200
29
215
1.47
0.93
2.5
1.8
0.5
0.9
mg/l
2.61
22
172
72
627
1.40
0.93
3.3
2.9
64.3
44.4
u/l
1.05
64
589
8
46
1.79
0.84
1.4
1.4
—
—
—
0
0
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
19
137
1.46
0.70
1.9
1.6
—
—
—
0
0
54
466
1.30
0.67
4.2
3.6
—
—
—
0
0
8
49
1.68
0.63
1.4
1.5
—
—
—
0
0
15
202
0.70
0.56
1.7
1.4
—
—
—
0
0
12
83
1.50
0.54
3.8
2.3
53.0
60.4
ml/min/173m2
—
6
33
23
182
1.33
0.52
1.7
1.5
—
—
—
0
0
33
276
1.27
0.50
6.8
3.8
17.3
10.1
mg/mmol
0.26
20
170
44
383
1.24
0.48
4.0
3.6
22.4
41.4
ng/l
0.86
33
256
43
374
1.24
0.47
4.1
3.6
—
—
—
0
0
8
55
1.49
0.44
1.1
1.5
—
—
—
0
0
15
114
1.36
0.43
4.7
4.8
38.7
33.0
%
—
10
68
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.9
—
—
—
0
0
96
918
1.28
0.38
22.4
12.2
83.2
80.7
ml/min/173m2
0.54
84
729
106
1026
1.42
0.37
19.9
9.7
26.8
24.8
u/l
0.60
101
986
6
42
1.45
0.36
1.5
1.3
—
—
—
0
0
11
83
1.36
0.33
1.2
1.8
—
—
—
0
0
94
906
1.21
0.27
7.3
5.3
39.8
39.3
mmol/mol
0.14
86
844
94
907
1.20
0.26
4.8
3.8
1.2
1.3
mmol/l
0.22
89
828
99
962
1.21
0.23
5.2
4.9
2.5
2.8
mmol/l
1.67
93
884
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
4.4
—
95.6
—
0
14
97
946
1.16
0.18
5.1
4.3
4.6
4.7
mmol/l
0.83
91
869
9
106
0.84
0.13
4.3
4.7
1.3
1.4
mmol/l
—
9
82
96
940
1.13
0.13
5.1
4.3
1.5
1.5
mmol/l
0.06
91
861
17
153
1.13
0.12
4.2
4.7
1.6
1.8
ug/l
0.10
17
136
11
97
1.15
0.09
2.2
1.6
—
—
—
0
0
11
97
1.15
0.09
1.8
1.6
—
—
—
0
0
5
60
0.83
0.08
6.0
5.2
1.2
1.5
%
—
5
60
92
935
0.92
0.08
5.5
4.4
5.9
5.9
mmol/l
0.12
84
853
8
90
0.88
0.07
2.6
2.0
—
—
—
0
0
12
127
0.94
0.02
4.0
3.7
25.5
23.4
%
—
7
59
10
94
1.07
0.01
1.5
1.5
1.8
1.4
%
—
10
81
11
105
1.05
0.00
2.8
4.0
5.6
8.1
ug/l
—
6
85
59
586
1.01
0.00
2.9
3.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
14.1
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
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
—
138.8
—
0
5
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
5
49
1.02
0.00
5.4
5.0
24.8
24.5
mmol/l
—
5
49
0
6
0.00
0.00
0.0
1.0
—
121.0
—
0
6
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.5
—
13.6
—
0
6
8
81
0.99
0.00
2.4
1.9
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
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
51
0.98
0.00
3.0
1.8
—
—
—
0
0
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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