No definition available.
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. |
299 |
4. Check minimum number of eventsNone |
299 |
5. Include endpointsNone |
299 |
6. Filter based on genotype QC (FinnGen only) |
299 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q6[5-9]|Q7
- Name in latin
- Aliae malformationes congenitae membrorum
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of limb(s)
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- 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 | 4390 | 2208 | 2179 |
| Only index persons | 3749 | 1902 | 1847 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.06 | 0.06 | 0.06 |
| Only index persons | 0.07 | 0.07 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 10.78 | 11.62 | 9.91 |
| Only index persons | 11.95 | 12.39 | 11.49 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 299 | 207 | 92 |
| Unadjusted period prevalence (%) | 0.06 | 0.07 | 0.04 |
| Median age at first event (years) | 14.08 | 13.78 | 14.76 |
-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
- 261
- Matched controls
- 2610
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q74.1
ICD-10 Finland
Congenital malformation of knee
+∞
68.9
63
*
Q74.88
ICD-10 Finland
Other specified congenital malformations of limb(s)
411.2
37.0
36
*
Q74.83
ICD-10 Finland
Congenital limb asymmetri, unspecified
+∞
29.8
28
*
Q74.9
ICD-10 Finland
Unspecified congenital malformation of limb(s)
+∞
24.3
23
*
Q74.81
ICD-10 Finland
Congenital overgrowth of limb(s)
+∞
22.2
21
*
NFK20
NOMESCO Finland
Epiphysiodesis of femur
62.7
20.2
23
*
Q74.01
ICD-10 Finland
Madelung's deformity
+∞
17.9
17
*
Q74.3
ICD-10 Finland
Arthrogryposis multiplex congenita
+∞
16.8
16
*
NGU20
NOMESCO Finland
Removal of internal fixation device from knee or lower leg
18.7
15.9
24
14
Q74.82
ICD-10 Finland
Congenital undergrowth of limb(s)
+∞
15.8
15
*
Z31.5
ICD-10 Finland
Genetic counselling
5.2
12.8
41
91
Q74.80
ICD-10 Finland
Congenital brachydactyli
+∞
12.6
12
*
NFK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of femur
+∞
12.6
12
*
Q74.28
ICD-10 Finland
Other congenital malformations of lower limb(s), including pelvic girdle
+∞
11.5
11
*
NGK20
NOMESCO Finland
Epiphysiodesis of knee or lower leg
125.3
11.5
12
*
L82
ICPC
Congenital anomaly musculoskeletal
+∞
10.5
10
*
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
9.7
10.2
20
22
ZXA10
NOMESCO Finland
Bilateral
3.3
9.5
52
185
NFU20
NOMESCO Finland
Removal of internal fixation device from femur
18.4
9.5
14
8
Q68.8
ICD-10 Finland
Other specified congenital musculoskeletal deformities
103.6
9.5
10
*
Q74.00
ICD-10 Finland
Accessory carpal bones
+∞
9.4
9
*
Q66.0
ICD-10 Finland
Talipes equinovarus
+∞
9.4
9
*
NGK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of knee or lower leg
38.1
9.1
11
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.8
8.4
60
253
NJ2MA
NOMESCO Finland
Measurement of mechanical axis of lower leg with X-ray
8.6
8.2
17
21
M25.5
ICD-10 Finland
Pain in joint
2.4
8.2
78
390
R4110
NOMESCO Finland
Physiotherapy
2.4
8.0
76
376
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
12.4
7.7
13
11
SPAT1229
SPAT
Assessment of need for aid
7.2
7.4
17
25
M17.1
ICD-10 Finland
Other primary gonarthrosis
4.1
6.7
25
66
M21.7
ICD-10 Finland
Unequal limb length (acquired)
14.8
6.4
10
7
9165
FHL
Removal of osteosynthesis material
18.6
6.3
9
5
75598
ICD-8 Finland
Other congenital anomalies of limbs, Alia definita
+∞
6.3
6
*
Q74.02
ICD-10 Finland
Cleidocranial dysostosis
+∞
6.3
6
*
Q74.20
ICD-10 Finland
Congenital fusion of sacroiliac joint
+∞
6.3
6
*
Q68.1
ICD-10 Finland
Congenital deformity of hand
+∞
6.3
6
*
TNH36
NOMESCO Finland
Custom molded cast of pes equinovarus
+∞
6.3
6
*
Q74.2
ICD-10 Finland
Other congenital malformations of lower limb(s), including pelvic girdle
+∞
6.3
6
*
9472
FHL
Soft tissue biopsy (muscle, tumor) under general anesthesia or operating room
+∞
6.3
6
*
M21.0
ICD-10 Finland
Valgus deformity, not elsewhere classified
27.4
6.3
8
*
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.4
6.1
55
264
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
52
246
2.35
6.60
1.9
2.1
392.2
382.8
nmol/l
0.10
47
229
32
128
2.68
5.76
5.0
5.7
78.8
64.5
ng/l
0.21
32
119
105
680
1.84
5.62
4.2
3.3
—
—
—
0
0
15
40
3.90
5.15
1.8
1.8
—
—
—
0
0
88
554
1.83
5.08
3.9
3.1
0.3
0.2
e6/l
0.24
62
405
61
345
1.96
4.87
3.1
2.8
2.2
0.6
e6/l
1.17
33
193
177
1389
1.67
4.47
8.5
9.2
4.1
3.8
e9/l
0.91
154
1210
26
107
2.57
4.44
2.3
1.6
—
—
—
0
0
114
810
1.66
4.16
13.6
7.8
1.2
1.2
mmol/l
1.24
108
755
22
86
2.68
4.15
1.7
1.4
—
—
—
0
0
57
334
1.87
4.07
3.3
2.9
2.3
3.1
e6/l
0.48
28
184
99
703
1.61
3.52
6.7
5.3
35.9
37.7
g/l
2.27
88
667
179
1469
1.54
3.30
6.9
5.8
84.5
85.7
u/l
0.10
174
1378
121
915
1.54
3.23
4.9
5.6
11.1
13.0
umol/l
0.48
115
864
249
2220
1.73
3.13
16.2
9.6
3.9
3.9
mmol/l
0.17
242
2140
134
1042
1.52
3.12
4.0
3.9
—
—
—
0
0
5
5
10.14
2.99
2.0
2.0
—
—
—
0
0
150
1207
1.49
2.89
8.5
4.7
6.2
6.2
mmol/l
0.08
136
1067
47
289
1.74
2.85
1.8
1.6
400.6
26070474.2
pmol/l
0.50
37
257
37
212
1.85
2.83
12.0
7.8
1.1
0.9
mmol/l
0.23
25
147
117
899
1.50
2.81
10.9
7.5
1.2
1.2
mmol/l
1.24
106
783
12
42
2.93
2.78
1.1
2.4
—
—
—
0
0
37
214
1.83
2.75
12.1
7.8
5.0
5.0
kpa
0.05
37
203
9
25
3.68
2.59
3.3
4.0
9.7
8.8
%
—
9
25
6
11
5.54
2.55
1.2
1.6
7.4
9.8
u/l
—
6
11
58
389
1.61
2.55
3.0
3.3
313.0
3169.5
umol/l
1.08
52
352
114
888
1.46
2.50
3.4
2.5
70.7
70.5
nmol/l
0.02
109
821
41
252
1.73
2.50
2.4
2.3
2.5
2.4
mmol/l
1.37
31
214
9
26
3.54
2.50
3.3
3.8
20.6
27.4
%
—
9
26
25
131
1.99
2.49
24.0
7.2
-0.2
0.7
mmol/l
0.65
16
101
7
16
4.45
2.49
1.7
1.3
—
—
—
0
0
41
254
1.71
2.43
1.6
1.8
—
—
—
0
0
9
27
3.40
2.41
3.9
3.7
—
—
—
0
0
5
8
6.33
2.38
2.0
1.5
77.4
51.6
nmol/l
—
5
8
31
181
1.80
2.26
1.7
1.6
—
—
—
0
0
30
177
1.77
2.12
1.7
1.5
—
—
—
0
0
38
240
1.67
2.11
7.1
8.6
1.6
1.3
mmol/l
0.28
32
184
7
20
3.56
2.06
1.7
1.3
—
—
—
0
0
28
164
1.78
2.03
14.0
8.5
9.9
9.8
kpa
0.30
28
158
30
181
1.73
1.97
7.7
9.6
24.2
23.7
mmol/l
0.50
30
174
8
27
3.02
1.95
1.6
1.2
—
—
—
0
0
29
174
1.74
1.95
1.5
1.8
13.9
15.0
iu/l
0.08
21
133
16
78
2.11
1.94
1.2
1.7
—
—
—
0
0
81
617
1.43
1.94
1.7
1.6
97.2
98.5
pmol/l
0.08
40
328
36
231
1.63
1.90
2.4
2.5
21.3
24.8
%
0.68
29
209
92
724
1.39
1.82
4.0
3.4
30.3
29.3
u/l
0.16
87
693
76
579
1.42
1.81
2.4
2.6
2.4
2.4
mmol/l
0.14
66
521
29
178
1.70
1.81
14.1
8.1
24.3
24.1
mmol/l
0.18
29
178
190
1678
1.36
1.80
4.6
3.7
37.3
37.2
mmol/mol
0.07
183
1587
34
220
1.62
1.74
7.6
8.8
5.4
5.1
kpa
0.30
34
214
8
30
2.71
1.73
1.1
1.4
—
—
—
0
0
241
2220
1.44
1.72
18.3
12.5
13.5
13.2
%
1.35
234
2187
19
104
1.88
1.71
30.8
7.7
122.8
123.8
g/l
0.06
19
97
64
483
1.41
1.60
1.5
1.7
1.5
1.4
mmol/l
0.34
57
431
62
466
1.42
1.59
3.3
2.6
1.3
0.8
mg/l
0.68
49
330
208
1881
1.35
1.57
11.0
7.4
101.3
99.8
ml/min/173m2
0.42
160
1407
37
253
1.53
1.52
3.8
4.3
5.7
9.0
umol/l
0.91
29
209
131
1120
1.30
1.44
3.5
3.0
0.0
0.0
estimate
0.00
20
226
42
302
1.45
1.37
2.9
2.4
8116.3
2981.6
u/l
0.41
18
133
181
1622
1.29
1.36
5.2
3.7
10.1
8.2
mm/h
1.24
170
1512
205
1870
1.31
1.34
4.4
3.9
14.4
14.4
pmol/l
0.13
195
1728
25
162
1.59
1.31
1.5
1.9
5.5
7.7
u/l
1.00
16
121
5
18
2.81
1.29
1.0
1.2
—
—
—
0
0
16
92
1.78
1.27
3.1
2.6
0.2
0.2
e6/l
0.27
16
87
131
1134
1.28
1.27
3.5
3.1
0.0
0.0
estimate
0.00
16
223
23
147
1.61
1.27
1.6
2.1
12.4
12.4
nmol/l
0.00
17
129
36
256
1.46
1.25
7.1
4.2
1544.9
697.0
ng/l
0.47
26
206
9
45
2.03
1.24
2.0
1.6
—
—
—
0
0
10
50
2.03
1.18
5.3
7.5
—
647.7
—
0
9
232
2167
1.32
1.17
5.0
4.4
1.8
2.3
mu/l
0.49
220
2042
10
51
1.99
1.12
1.7
1.5
—
—
—
0
0
256
2431
1.37
1.11
10.0
7.8
29.6
25.2
u/l
1.75
248
2352
23
153
1.55
1.10
2.5
2.4
—
—
—
0
0
127
1120
1.23
1.00
4.8
4.4
0.0
0.0
estimate
0.00
20
234
37
279
1.37
0.96
4.2
2.6
303.3
480.4
ng/l
0.34
25
145
9
51
1.79
0.95
1.8
1.4
—
—
—
0
0
62
506
1.28
0.95
2.8
2.1
—
—
—
0
0
9
52
1.75
0.93
1.1
1.1
—
—
—
0
0
24
168
1.47
0.93
3.1
4.7
0.2
0.2
g/l
0.02
24
161
70
585
1.26
0.88
3.6
3.1
0.0
0.0
estimate
0.50
18
232
47
375
1.30
0.85
1.3
1.3
10.6
23.8
iu/ml
—
10
107
14
89
1.60
0.82
2.6
1.6
0.2
0.2
g/l
0.82
14
83
8
47
1.72
0.81
2.4
4.3
3.4
7.0
u/ml
—
8
40
61
508
1.25
0.80
2.8
2.3
20.5
26.6
ng/l
0.30
26
204
27
200
1.38
0.79
1.6
1.4
258.2
305.1
mu/l
0.77
27
180
18
123
1.49
0.79
2.3
2.0
69.1
84.0
ml/min/173m2
—
7
46
0
26
0.00
0.79
0.0
1.3
—
—
—
0
0
5
24
2.10
0.75
2.8
1.7
—
—
—
0
0
5
24
2.10
0.75
1.2
1.5
—
—
—
0
0
7
38
1.86
0.74
1.1
1.5
—
—
—
0
0
34
428
0.77
0.72
1.4
1.5
—
—
—
0
0
14
93
1.53
0.71
2.6
1.6
1.1
1.2
g/l
0.34
14
86
67
574
1.22
0.68
2.6
2.6
2.8
2.7
mg/l
0.17
61
496
21
280
0.73
0.66
1.7
1.5
—
—
—
0
0
5
29
1.74
0.64
1.2
1.6
—
—
—
0
0
95
847
1.18
0.63
3.2
3.0
—
—
—
0
0
225
2344
0.84
0.62
3.8
3.9
—
—
—
0
0
0
20
0.00
0.60
0.0
1.3
—
—
—
0
0
95
850
1.17
0.60
1.7
1.5
0.6
2.2
u/ml
1.81
20
200
204
1935
1.17
0.60
3.7
2.9
5.7
5.5
mmol/l
0.53
186
1792
8
54
1.49
0.57
1.1
1.2
—
—
—
0
0
252
2443
1.20
0.52
15.3
9.6
22.7
20.1
mg/l
0.52
194
1774
16
118
1.38
0.51
1.8
1.7
—
—
—
0
0
10
67
1.51
0.50
1.5
1.1
—
—
—
0
0
44
375
1.20
0.49
1.2
1.2
3.2
8.9
u/ml
1.24
14
151
7
47
1.50
0.48
1.0
1.3
—
—
—
0
0
165
1562
1.13
0.44
3.3
3.1
41.4
31.0
u/l
0.83
156
1505
8
56
1.44
0.43
1.0
1.3
—
57.1
—
0
5
6
94
0.63
0.43
1.3
1.5
—
—
—
0
0
13
96
1.37
0.42
1.2
1.3
—
—
—
0
0
15
114
1.33
0.41
1.5
1.3
—
—
—
0
0
205
1972
1.13
0.40
3.9
3.3
2.9
2.8
mmol/l
1.25
194
1855
5
35
1.44
0.39
1.2
1.4
—
—
—
0
0
11
80
1.39
0.39
3.7
2.9
147.5
114.6
ng/l
0.10
11
75
27
225
1.22
0.38
1.8
1.7
—
—
—
0
0
5
36
1.40
0.38
1.2
1.4
—
—
—
0
0
5
37
1.36
0.37
1.2
1.0
—
—
—
0
0
9
70
1.29
0.37
2.3
2.2
—
—
—
0
0
42
369
1.16
0.35
1.9
1.6
1.3
1.4
%
0.30
37
334
20
239
0.83
0.31
1.4
1.5
—
—
—
0
0
7
55
1.28
0.30
4.4
2.0
1.1
0.7
nmol/l
—
7
46
15
122
1.24
0.27
1.4
1.5
—
—
—
0
0
251
2463
1.12
0.26
16.7
11.0
40.4
40.2
%
0.23
204
2108
203
1975
1.09
0.25
3.7
3.2
4.7
4.6
mmol/l
0.42
192
1871
10
78
1.29
0.24
1.5
2.0
41.3
39.7
u/l
—
10
72
18
152
1.20
0.24
3.5
3.3
21.1
22.1
%
—
7
41
14
115
1.23
0.24
3.3
3.6
5.7
9.8
umol/l
—
9
87
57
528
1.10
0.22
2.3
1.9
—
—
—
0
0
5
40
1.25
0.22
1.8
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
3.9
—
101.5
—
0
11
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
2.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
1071.0
—
0
13
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
6
50
1.20
0.20
1.2
1.3
—
—
—
0
0
6
50
1.20
0.20
1.2
1.3
—
—
—
0
0
200
1958
1.06
0.17
3.5
3.1
1.4
1.5
mmol/l
2.24
190
1847
51
545
0.92
0.17
1.5
1.5
—
—
—
0
0
18
204
0.87
0.16
1.4
1.6
—
—
—
0
0
6
77
0.77
0.16
1.0
1.2
—
—
—
0
0
25
226
1.12
0.15
1.1
1.0
—
—
—
0
0
26
236
1.11
0.15
1.3
1.3
65.2
139.1
iu/ml
—
10
90
16
180
0.88
0.13
1.3
1.8
—
—
—
0
0
5
46
1.09
0.09
1.2
1.5
—
—
—
0
0
15
165
0.90
0.09
1.3
1.5
—
—
—
0
0
18
165
1.10
0.09
5.4
5.0
—
—
—
0
0
81
834
0.96
0.09
2.3
2.5
—
—
—
0
0
100
976
1.04
0.08
2.2
1.8
—
—
—
0
0
5
61
0.82
0.08
1.2
2.2
—
—
—
0
0
7
64
1.10
0.08
1.3
2.3
—
—
—
0
0
6
72
0.83
0.07
1.7
2.0
—
—
—
0
0
6
75
0.80
0.07
1.5
1.2
—
—
—
0
0
6
75
0.80
0.07
1.0
1.2
—
—
—
0
0
8
75
1.07
0.07
1.3
1.6
—
0.0
—
0
16
8
78
1.03
0.07
1.5
2.7
67.5
105.4
e6/l
—
8
63
20
213
0.93
0.06
1.4
1.4
—
—
—
0
0
20
213
0.93
0.06
1.4
1.4
—
—
—
0
0
20
213
0.93
0.06
1.4
1.4
—
—
—
0
0
20
213
0.93
0.06
1.4
1.4
—
—
—
0
0
13
119
1.10
0.06
1.8
1.6
—
—
—
0
0
44
428
1.03
0.04
2.0
1.8
—
—
—
0
0
23
220
1.05
0.03
1.4
1.3
—
—
—
0
0
12
128
0.93
0.02
1.2
1.2
—
—
—
0
0
188
1870
1.01
0.02
3.3
2.9
1.3
1.2
mmol/l
1.52
178
1766
29
282
1.03
0.02
1.5
1.4
—
—
—
0
0
76
767
0.99
0.01
2.1
2.3
—
—
—
0
0
16
157
1.02
0.00
2.1
2.1
—
—
—
0
0
12
116
1.04
0.00
1.4
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
3.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
9
91
0.99
0.00
1.1
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
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
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
6.3
—
0
6
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
7
0.00
0.00
0.0
2.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_LIMBS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_LIMBS.| 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_OTHER_CONGEN_MALFO_LIMBS – Other congenital malformations of limb(s)
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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