No definition available.
Other congenital musculoskeletal deformities
DOID EFO Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI
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. |
128 |
4. Check minimum number of eventsNone |
128 |
5. Include endpointsNone |
128 |
6. Filter based on genotype QC (FinnGen only) |
117 |
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 deformitates musculosceletales congenitae
Similar endpoints
↥List of similar endpoints to
Other congenital musculoskeletal deformities
based on the number of shared cases.
Similar with more cases:
- Other congenital musculoskeletal deformities, including avohilmo
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations and deformations of the musculoskeletal system, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2341 | 1201 | 1140 |
| Only index persons | 1848 | 977 | 871 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.04 | 0.03 |
| Median age at first event (years) | |||
| Whole population | - | 5.95 | 2.58 |
| Only index persons | 8.22 | 9.78 | 6.48 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 117 | 85 | 32 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.01 |
| Median age at first event (years) | 15.45 | 16.20 | 13.44 |
-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
- 122
- Matched controls
- 1220
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q68.8
ICD-10 Finland
Other specified congenital musculoskeletal deformities
+∞
50.6
45
*
Q68.1
ICD-10 Finland
Congenital deformity of hand
+∞
37.4
34
*
Q68.0
ICD-10 Finland
Congenital deformity of sternocleidomastoid muscle
+∞
24.8
23
*
Q68.2
ICD-10 Finland
Congenital deformity of knee
+∞
17.1
16
*
NAL22
NOMESCO Finland
Myotomy or tenotomy of spine or neck
85.0
7.5
8
*
Q74.3
ICD-10 Finland
Arthrogryposis multiplex congenita
+∞
7.4
7
*
Q74.88
ICD-10 Finland
Other specified congenital malformations of limb(s)
+∞
6.3
6
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.7
6.1
46
225
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
23
87
3.03
4.82
8.2
17.6
24.57
24.96
mmol/l
0.26
23
87
25
101
2.86
4.66
4.4
10.4
5.94
5.64
kpa
0.93
25
96
22
86
2.90
4.34
7.7
13.4
105.36
105.15
mmol/l
0.09
22
86
75
534
2.05
3.58
6.2
6.5
5.83
6.01
mmol/l
0.61
70
478
20
83
2.69
3.52
3.0
11.3
23.53
23.67
mmol/l
0.08
20
83
56
380
1.88
2.89
9.7
10.7
1.21
1.22
mmol/l
1.24
56
362
10
34
3.11
2.34
4.8
12.8
0.83
0.63
%
—
10
34
10
34
3.11
2.34
4.6
12.9
1.41
1.46
%
—
10
34
8
23
3.65
2.31
6.0
4.7
27.29
23.66
mmol/l
—
8
23
10
37
2.85
2.12
7.9
16.8
0.59
0.63
%
—
10
37
22
120
2.02
2.10
12.7
11.6
1.20
1.19
mmol/l
0.01
22
109
27
160
1.88
2.04
3.6
4.2
5.75
16.61
mg/mmol
0.73
16
102
10
39
2.70
1.99
8.5
16.2
1.25
1.21
%
—
10
39
26
154
1.87
1.96
2.2
3.8
4.54
4.00
e6/l
0.11
11
76
39
265
1.69
1.86
4.4
4.3
0.00
0.01
estimate
0.50
11
99
23
133
1.90
1.86
3.9
2.9
62.13
340.41
ng/l
0.77
15
66
61
468
1.61
1.80
2.8
3.1
—
—
estimate
—
0
0
18
97
2.00
1.77
1.3
1.3
—
—
—
0
0
10
42
2.50
1.66
8.6
14.6
23.10
24.93
mmol/l
—
10
42
49
365
1.57
1.59
1.9
1.8
1.52
1.30
mmol/l
0.64
44
332
33
223
1.66
1.59
1.9
1.6
—
—
—
0
0
68
546
1.55
1.59
4.9
4.0
0.00
0.00
estimate
-0.00
13
100
26
166
1.72
1.54
2.1
3.6
0.65
0.86
e6/l
0.15
11
86
51
388
1.54
1.49
5.2
3.7
0.25
0.01
estimate
0.67
12
84
44
324
1.56
1.49
1.8
1.7
100.93
97.35
pmol/l
0.24
23
168
6
23
2.69
1.38
1.2
1.7
—
—
—
0
0
8
34
2.45
1.32
4.6
3.4
35.75
89.03
ng/l
—
8
34
66
545
1.46
1.24
4.9
3.9
0.00
0.00
estimate
-0.00
13
101
17
102
1.77
1.24
2.4
1.5
—
—
—
0
0
5
19
2.70
1.23
1.2
1.4
—
—
—
0
0
65
538
1.45
1.19
4.9
3.9
0.00
0.00
estimate
-0.00
13
101
41
311
1.48
1.18
4.6
4.2
—
—
—
0
0
35
257
1.51
1.17
4.8
3.7
1.02
1.02
kg/l
0.11
25
177
0
35
0.00
1.17
0.0
2.5
—
—
—
0
0
17
104
1.74
1.17
2.5
1.5
—
—
—
0
0
8
40
2.07
1.14
1.4
1.3
—
—
—
0
0
15
89
1.78
1.14
8.8
11.2
1.38
0.79
mmol/l
—
9
64
33
241
1.51
1.13
2.4
2.7
—
—
—
0
0
13
75
1.82
1.07
1.8
1.7
—
—
—
0
0
9
46
2.03
1.06
1.8
1.3
—
—
—
0
0
29
210
1.50
1.03
2.4
2.2
—
—
—
0
0
32
237
1.47
1.02
2.7
2.3
—
—
—
0
0
0
31
0.00
0.98
0.0
2.5
—
—
—
0
0
6
29
2.12
0.90
8.0
5.5
56.75
61.92
%
—
6
29
33
253
1.42
0.88
3.9
3.8
0.17
0.21
e6/l
0.18
26
181
39
309
1.39
0.86
4.5
3.3
0.00
0.00
estimate
-0.00
12
87
6
31
1.98
0.85
1.2
1.1
—
—
—
0
0
6
32
1.92
0.83
1.8
1.5
—
—
—
0
0
6
32
1.92
0.83
2.2
1.2
—
—
—
0
0
11
67
1.71
0.78
2.5
3.0
—
—
—
0
0
6
34
1.80
0.77
1.0
1.3
—
—
—
0
0
104
977
1.44
0.68
15.8
12.8
3.93
3.91
mmol/l
0.36
104
954
5
28
1.82
0.67
1.0
1.0
—
—
—
0
0
104
979
1.42
0.65
15.7
12.7
139.55
139.66
mmol/l
0.24
104
960
11
71
1.60
0.64
9.8
9.7
24.45
24.04
mmol/l
0.35
11
71
10
63
1.64
0.64
5.4
4.6
96.10
95.30
%
—
10
63
19
140
1.42
0.63
2.5
1.8
—
—
—
0
0
70
626
1.28
0.63
8.2
11.0
3.79
3.83
e9/l
0.06
65
538
8
53
1.54
0.60
3.0
2.4
0.94
1.16
ug/l
—
8
48
17
126
1.41
0.55
1.8
1.7
3.50
3.42
mmol/l
—
10
85
12
86
1.44
0.46
1.4
1.7
—
—
—
0
0
10
69
1.49
0.46
1.5
1.6
51.34
47.74
ug/l
—
10
69
16
122
1.36
0.45
1.6
1.5
—
—
—
0
0
29
243
1.25
0.43
3.2
2.6
274.38
17.81
ng/l
0.48
12
99
0
17
0.00
0.41
0.0
1.0
—
—
—
0
0
5
34
1.49
0.41
1.0
1.3
—
—
—
0
0
8
61
1.33
0.40
3.9
5.6
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
5
35
1.45
0.40
2.0
1.6
—
—
—
0
0
26
218
1.24
0.38
1.6
1.4
159.80
20.77
iu/ml
—
6
67
10
72
1.42
0.38
2.9
2.0
—
—
—
0
0
6
44
1.38
0.35
1.3
1.7
—
—
—
0
0
33
371
0.85
0.30
2.7
2.4
—
—
—
0
0
12
96
1.28
0.25
1.2
1.5
327.17
286.72
miu/ml
—
6
52
18
153
1.21
0.24
1.9
1.8
3.13
3.38
ratio
0.30
11
116
109
1064
1.23
0.23
12.7
9.9
23.13
25.39
u/l
1.23
109
1041
35
384
0.88
0.23
1.4
1.5
0.65
1.64
u/ml
—
10
86
110
1075
1.24
0.22
16.0
12.7
64.74
66.62
umol/l
0.27
110
1060
8
103
0.76
0.22
1.9
1.6
79.67
56.44
ug/l
—
8
88
5
42
1.20
0.21
1.8
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
11.38
—
0
10
0
10
0.00
0.21
0.0
1.0
—
0.00
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
0.00
—
0
10
0
10
0.00
0.21
0.0
1.0
—
2.93
—
0
10
0
10
0.00
0.21
0.0
1.0
—
3.73
—
0
10
0
10
0.00
0.21
0.0
1.0
—
7.57
—
0
10
0
10
0.00
0.21
0.0
1.0
—
1.00
—
0
10
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
5.42
—
0
10
0
10
0.00
0.21
0.0
1.0
—
0.00
—
0
10
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
132.54
—
0
12
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
13.17
—
0
14
96
986
0.88
0.18
4.6
4.0
—
—
—
0
0
9
79
1.15
0.15
1.2
1.5
—
—
—
0
0
108
1062
1.15
0.13
15.7
12.3
21.99
20.10
mg/l
0.24
94
818
21
193
1.11
0.10
1.2
1.3
8.73
7.36
u/ml
—
7
78
38
400
0.93
0.10
2.8
2.5
—
—
—
0
0
5
46
1.09
0.09
1.6
2.2
—
—
—
0
0
41
429
0.93
0.09
2.4
1.9
—
—
—
0
0
6
58
1.04
0.08
1.2
1.5
—
—
—
0
0
7
63
1.12
0.08
1.3
1.5
—
—
—
0
0
8
77
1.04
0.07
1.8
1.9
7.93
13.60
nmol/l
—
8
70
88
871
1.04
0.02
11.0
9.5
99.76
100.16
ml/min/173m2
0.06
78
767
10
104
0.96
0.00
1.0
1.0
—
—
—
0
0
90
903
0.99
0.00
4.7
3.7
4.66
4.64
mmol/l
0.07
90
872
13
128
1.02
0.00
6.2
2.2
816.40
8291.47
u/l
—
5
51
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
6.2
—
25.89
—
0
9
0
5
0.00
-0.00
0.0
2.6
—
918.80
—
0
5
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
83.22
—
0
9
0
6
0.00
-0.00
0.0
1.3
—
73.67
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.3
—
256.00
—
0
7
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
360.83
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
6.08
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
12.44
—
0
9
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.01
—
0
5
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI.| 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_MUSCULOS_DEFORMITI – Other congenital musculoskeletal deformities
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