No definition available.
Congenital musculoskeletal deformities of head, face, spine and chest
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST
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. |
463 |
4. Check minimum number of eventsNone |
463 |
5. Include endpointsNone |
463 |
6. Filter based on genotype QC (FinnGen only) |
463 |
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
- Deformitates musculosceletales congenitae capitis, faciei, columnae vertebralis et thoracis
Similar endpoints
↥List of similar endpoints to
Congenital musculoskeletal deformities of head, face, spine and chest
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 | 7857 | 2299 | 5551 |
| Only index persons | 5984 | 1736 | 4248 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.13 | 0.07 | 0.16 |
| Only index persons | 0.13 | 0.06 | 0.16 |
| Median age at first event (years) | |||
| Whole population | 12.97 | 11.53 | 13.53 |
| Only index persons | 14.71 | 14.54 | 14.78 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 463 | 205 | 258 |
| Unadjusted period prevalence (%) | 0.09 | 0.07 | 0.11 |
| Median age at first event (years) | 21.55 | 27.14 | 17.12 |
-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
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
- 408
- Matched controls
- 4082
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q67.6
ICD-10 Finland
Pectus excavatum
2699.0
182.7
163
*
GAF03
NOMESCO Finland
Correction of pectus excavatum
+∞
61.0
57
*
GAF10
NOMESCO Finland
Removal of prosthetic material after correction of malformation of chest wall
+∞
58.8
55
*
Q67.48
ICD-10 Finland
Other specified congenital deformity of skull, face or jaw
+∞
54.4
51
*
Q67.4
ICD-10 Finland
Other congenital deformities of skull, face and jaw
+∞
50.0
47
*
Q67.7
ICD-10 Finland
Pectus carinatum
501.1
46.2
45
*
Q67.0
ICD-10 Finland
Facial asymmetry
+∞
33.8
32
*
DJD20
NOMESCO Finland
Plastic repair of septum of nose
11.1
29.3
57
59
Q67.3
ICD-10 Finland
Plagiocephaly
277.2
26.0
26
*
Q67.5
ICD-10 Finland
Congenital deformity of spine
+∞
25.3
24
*
Q67.40
ICD-10 Finland
Other congenital deformities of skull, face and jaw
+∞
24.2
23
*
Q67.8
ICD-10 Finland
Other congenital deformities of chest
+∞
20.0
19
*
WX408
NOMESCO Finland
General anesthesy, balanced
2.7
16.5
140
660
WX302
NOMESCO Finland
Thoracal epidural anesthesy
7.6
15.4
36
51
Z31.5
ICD-10 Finland
Genetic counselling
5.0
14.8
49
109
AA6AD
NOMESCO Finland
Cranial bones CT examination
55.3
13.9
16
*
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
16.5
12.3
19
12
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
17.0
11.8
18
11
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.2
11.7
152
860
K07.10
ICD-10 Finland
Asymmetry of jaw
66.9
11.7
13
*
75630
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Pectus excavatum
+∞
11.5
11
*
DLD20
NOMESCO Finland
Rhinoplasty
36.1
11.3
14
*
ZZF00
NOMESCO Finland
Graft of adipose tissue
25.9
11.2
15
6
ZZG00
NOMESCO Finland
Graft of cartilage
61.6
10.7
12
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.0
10.5
63
233
Q37.1
ICD-10 Finland
Cleft hard palate with unilateral cleft lip
+∞
10.5
10
*
Q67.2
ICD-10 Finland
Dolichocephaly
+∞
10.5
10
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
41.1
10.0
12
*
N02AX02
ATC
tramadol; systemic, rectal
2.1
9.5
123
685
7548A
ICD-9 Finland
Certain congenital musculoskeletal deformities, Other specified nonteratogenic anomalies[PECTUS EXCAVATUM]
+∞
9.4
9
*
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
16.0
9.1
14
9
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.3
8.5
85
420
5853
FHL
Anterior thoracoplasty (funnel breast, chicken breast)
+∞
8.4
8
*
GAD00
NOMESCO Finland
Thoracoplasty without plombage
+∞
8.4
8
*
TPH07
NOMESCO Finland
Cathetrisation of artery
3.3
8.0
40
131
Q17.2
ICD-10 Finland
Microtia
81.5
7.4
8
*
M41.4
ICD-10 Finland
Neuromuscular scoliosis
81.5
7.4
8
*
R4110
NOMESCO Finland
Physiotherapy
2.1
7.4
95
519
5859
FHL
Other operations in this group (eg removal of fixation plate)
+∞
7.3
7
*
Q87.03
ICD-10 Finland
Syndrome Goldenhar
+∞
7.3
7
*
M41.9
ICD-10 Finland
Scoliosis, unspecified
8.2
7.2
15
19
EDC10
NOMESCO Finland
Sagittal osteotomy of ramus of mandible
20.4
7.2
10
5
SBB00
NOMESCO Finland
Fotograf of mouth and teeth
3.2
7.0
35
116
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.1
6.8
85
461
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.2
6.6
73
375
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.2
6.5
70
354
SJX10
NOMESCO Finland
Short check-up visit for orthodontisk therapy
2.6
6.5
48
202
Q87.09
ICD-10 Finland
Other congenital malformations that mainly affect the appearance of the face
70.9
6.4
7
*
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
18.4
6.3
9
5
GAF96
NOMESCO Finland
Other correction of malformation of chest wall
+∞
6.3
6
*
Q75.00
ICD-10 Finland
Coronary craniosynostosis
+∞
6.3
6
*
Q87.4
ICD-10 Finland
Marfan syndrome
27.1
6.2
8
*
-69
ICPC
Other reason for encounter NEC
4.3
6.1
21
51
SAA03
NOMESCO Finland
Extended examination of mouth
1.7
6.1
188
1375
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
47
211
2.37
6.52
4.2
3.0
61.1
75.7
ml/min/173m2
0.88
13
93
55
268
2.19
6.30
4.6
10.2
1.6
0.6
mmol/l
1.06
46
210
33
127
2.72
6.28
4.5
12.6
25.2
24.0
mmol/l
1.41
33
121
243
1893
1.60
5.74
4.5
5.6
6.1
6.4
mmol/l
1.30
220
1725
127
876
1.62
4.82
4.2
3.3
0.1
0.2
e6/l
1.32
102
650
386
3460
1.70
4.32
13.0
12.3
139.8
139.6
mmol/l
0.67
376
3361
386
3469
1.68
4.17
13.0
12.3
3.9
3.9
mmol/l
0.35
376
3356
58
341
1.80
3.93
4.0
8.3
105.4
104.4
mmol/l
0.92
58
335
405
3705
1.74
3.86
12.9
11.2
25.7
21.7
mg/l
1.44
313
2739
369
3300
1.58
3.83
14.8
14.1
13.4
13.3
%
0.37
364
3252
340
3001
1.50
3.62
9.6
9.4
97.9
95.3
ml/min/173m2
1.35
280
2355
187
1504
1.41
3.16
6.1
8.3
1.2
1.2
mmol/l
0.50
165
1312
77
526
1.56
2.97
3.2
2.9
1.1
0.7
e6/l
0.34
52
298
399
3692
1.58
2.95
12.6
12.4
40.6
40.8
%
0.23
330
3095
74
506
1.55
2.84
5.1
3.1
442.3
695.7
ng/l
0.31
52
317
170
1370
1.38
2.76
5.8
8.3
1.2
1.2
mmol/l
0.54
159
1269
154
1221
1.39
2.76
5.5
5.8
38.0
37.2
g/l
1.06
145
1152
102
753
1.45
2.71
2.1
2.5
—
—
—
0
0
140
1100
1.39
2.63
4.1
3.4
—
—
—
0
0
446
4277
2.17
2.61
17.7
16.4
138.8
138.5
g/l
0.17
438
4233
73
510
1.51
2.55
3.2
3.1
2.9
2.2
e6/l
0.23
48
284
47
297
1.65
2.51
1.8
1.7
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
16
69
2.37
2.51
2.4
7.2
0.3
0.4
u/ml
1.86
11
41
41
250
1.70
2.50
3.1
3.0
—
—
—
0
0
81
591
1.45
2.29
3.1
3.4
670.3
1189.4
ng/l
1.02
66
476
177
1471
1.33
2.26
3.7
4.1
—
—
—
0
0
47
308
1.59
2.19
1.9
1.7
—
—
—
0
0
8
26
3.11
2.02
1.0
1.6
—
—
—
0
0
61
435
1.46
1.95
1.8
1.8
—
—
—
0
0
403
3814
1.44
1.87
9.4
9.0
25.8
29.0
u/l
3.20
390
3705
6
143
0.41
1.54
2.2
1.7
—
—
—
0
0
10
44
2.30
1.54
1.2
1.7
—
—
—
0
0
5
15
3.36
1.52
1.2
1.9
—
—
—
0
0
5
15
3.36
1.52
7.4
6.1
—
—
—
0
0
6
21
2.88
1.51
1.5
1.4
1.0
0.9
g/l
—
6
21
9
40
2.27
1.41
1.0
1.2
—
—
—
0
0
266
2423
1.23
1.40
7.1
7.0
88.0
85.1
u/l
0.33
250
2292
47
342
1.42
1.39
1.8
2.3
15.1
13.9
nmol/l
0.36
41
307
8
161
0.49
1.38
2.3
1.6
—
—
—
0
0
54
404
1.38
1.36
5.6
8.5
2.2
1.4
mmol/l
1.30
45
311
10
48
2.11
1.28
2.3
3.7
—
—
—
0
0
41
297
1.42
1.25
9.4
10.8
7.6
6.7
mmol/l
0.38
41
289
36
255
1.45
1.24
3.6
2.5
1730.4
3965.9
u/l
0.64
12
114
183
1621
1.21
1.23
3.6
3.3
0.0
0.0
estimate
0.00
29
311
185
1642
1.21
1.21
3.7
3.3
0.0
0.0
estimate
0.00
31
310
117
992
1.24
1.19
1.5
1.7
106.6
96.7
pmol/l
0.80
54
510
22
331
0.65
1.18
1.5
1.5
—
—
—
0
0
0
33
0.00
1.16
0.0
1.1
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
35
0.00
1.15
0.0
1.1
—
—
—
0
0
237
2161
1.20
1.15
9.1
10.1
3.8
3.9
e9/l
0.39
215
1855
46
346
1.37
1.15
6.2
7.3
2.4
1.1
mmol/l
1.12
32
247
35
251
1.43
1.14
5.7
7.7
9.7
9.5
kpa
0.37
35
237
182
1622
1.20
1.13
4.9
4.6
0.0
0.0
estimate
0.00
31
323
10
51
1.98
1.12
1.3
1.1
—
—
—
0
0
21
137
1.56
1.07
1.3
1.6
—
—
—
0
0
81
669
1.26
1.04
2.2
3.1
8820.7
4485.7
umol/l
0.31
75
599
12
68
1.79
1.01
1.0
1.2
—
1.1
—
0
5
7
35
2.02
1.00
1.0
1.1
—
—
—
0
0
10
174
0.57
0.98
1.4
1.2
—
—
—
0
0
0
29
0.00
0.98
0.0
1.0
—
—
—
0
0
37
278
1.36
0.95
1.7
1.3
879.3
245.9
u/ml
0.38
37
254
6
27
2.24
0.93
1.8
2.3
0.1
0.1
nmol/l
—
6
15
29
211
1.40
0.91
1.3
1.6
—
—
—
0
0
23
160
1.46
0.90
1.5
1.7
—
—
—
0
0
8
42
1.92
0.89
1.4
1.9
—
—
—
0
0
83
703
1.22
0.87
1.9
2.6
0.9
0.9
mg/l
0.03
54
507
11
64
1.74
0.87
8.2
4.1
3.3
4.0
e9/l
0.78
11
64
6
31
1.95
0.84
2.0
1.5
—
—
—
0
0
27
199
1.38
0.80
4.9
4.7
3.0
63.6
ug/l
0.83
19
157
0
24
0.00
0.79
0.0
1.0
—
1388.8
—
0
24
6
33
1.83
0.79
1.3
2.0
—
—
—
0
0
0
25
0.00
0.79
0.0
1.0
—
—
—
0
0
12
74
1.64
0.79
1.3
1.3
—
—
—
0
0
0
26
0.00
0.78
0.0
1.0
—
—
—
0
0
0
27
0.00
0.77
0.0
1.2
—
—
—
0
0
14
91
1.56
0.76
2.4
2.3
298.7
327.1
ug/l
0.08
14
85
9
53
1.71
0.76
1.3
1.7
—
—
—
0
0
11
67
1.66
0.75
8.3
4.4
52.5
55.0
%
0.35
11
67
32
411
0.76
0.75
1.6
1.5
—
—
—
0
0
5
24
2.09
0.74
1.8
5.7
20.1
23.1
ug/l
—
5
24
10
159
0.62
0.73
1.4
1.3
—
—
—
0
0
6
106
0.56
0.73
1.3
1.2
—
—
—
0
0
105
926
1.17
0.72
2.1
2.6
50.9
55.4
u/l
0.96
91
866
147
1331
1.15
0.72
2.7
2.6
73.7
71.8
nmol/l
0.44
137
1226
61
512
1.22
0.71
1.3
1.3
40.1
32.7
iu/ml
0.10
21
149
9
144
0.62
0.70
1.8
1.9
35.1
39.5
u/l
—
9
133
261
2463
1.14
0.68
4.6
3.9
8.2
8.5
mm/h
0.19
248
2293
11
167
0.65
0.67
1.5
1.4
—
—
—
0
0
11
167
0.65
0.67
1.5
1.4
—
—
—
0
0
18
128
1.42
0.66
1.1
1.1
—
—
—
0
0
36
287
1.28
0.66
1.3
1.3
—
—
—
0
0
282
2678
1.14
0.66
3.5
3.7
14.6
14.6
pmol/l
0.04
259
2450
11
166
0.65
0.65
1.5
1.4
—
—
—
0
0
11
166
0.65
0.65
1.5
1.4
—
—
—
0
0
26
198
1.33
0.65
2.0
1.8
20.0
16.9
iu/l
0.19
18
156
8
128
0.62
0.65
1.4
1.4
—
—
—
0
0
13
187
0.69
0.62
1.5
1.5
—
—
—
0
0
5
30
1.67
0.61
1.0
1.2
—
—
—
0
0
15
105
1.44
0.60
1.1
1.9
—
—
—
0
0
0
20
0.00
0.60
0.0
1.7
—
—
—
0
0
0
20
0.00
0.60
0.0
1.7
—
—
—
0
0
0
20
0.00
0.60
0.0
1.7
—
—
—
0
0
0
20
0.00
0.60
0.0
1.7
—
—
—
0
0
0
21
0.00
0.60
0.0
1.1
—
—
—
0
0
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
0
22
0.00
0.59
0.0
1.2
—
—
—
0
0
0
22
0.00
0.59
0.0
1.0
—
101.8
—
0
12
12
173
0.69
0.58
1.8
1.7
—
—
—
0
0
0
23
0.00
0.58
0.0
1.1
—
—
—
0
0
0
23
0.00
0.58
0.0
1.3
—
10.4
—
0
23
0
23
0.00
0.58
0.0
1.1
—
—
—
0
0
0
23
0.00
0.58
0.0
1.0
—
93.5
—
0
13
23
176
1.32
0.57
2.2
1.3
—
—
—
0
0
11
73
1.52
0.56
1.0
1.2
—
46.6
—
0
6
16
217
0.73
0.56
1.6
1.4
—
—
—
0
0
6
38
1.59
0.54
1.3
1.5
—
—
—
0
0
9
62
1.46
0.53
1.4
1.7
—
—
—
0
0
6
39
1.55
0.53
1.3
1.5
—
—
—
0
0
6
39
1.55
0.53
1.3
1.5
—
—
—
0
0
6
39
1.55
0.53
1.3
1.5
—
—
—
0
0
10
66
1.53
0.53
1.0
1.2
—
—
—
0
0
57
492
1.18
0.52
1.3
1.2
6.0
9.2
u/ml
0.32
22
203
6
98
0.61
0.52
1.0
1.3
—
—
—
0
0
102
921
1.14
0.52
4.5
3.1
2.4
2.4
mmol/l
0.17
92
830
18
236
0.75
0.52
1.2
1.2
—
32.9
—
0
12
6
40
1.51
0.51
1.3
1.5
—
—
—
0
0
6
40
1.51
0.51
1.3
1.5
—
—
—
0
0
23
181
1.28
0.49
1.7
2.8
69.5
65.5
g/l
2.33
23
171
7
46
1.53
0.48
2.0
1.6
—
—
—
0
0
17
129
1.33
0.46
1.1
1.1
—
—
—
0
0
15
198
0.75
0.46
1.3
1.3
218.6
270.7
miu/ml
—
6
101
24
297
0.80
0.46
1.3
1.3
40.7
164.1
iu/ml
4.30
11
112
57
500
1.16
0.44
1.6
2.1
—
—
—
0
0
5
32
1.57
0.42
1.0
1.1
—
—
—
0
0
11
150
0.73
0.42
1.8
1.5
202.3
212.4
u/ml
—
6
76
5
33
1.52
0.41
1.0
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.7
—
—
—
0
0
0
15
0.00
0.41
0.0
1.7
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
0
16
0.00
0.41
0.0
4.3
—
87.4
—
0
16
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
0
16
0.00
0.41
0.0
3.4
—
87.7
—
0
16
0
16
0.00
0.41
0.0
1.7
—
—
—
0
0
0
17
0.00
0.40
0.0
1.0
—
—
—
0
0
0
17
0.00
0.40
0.0
1.1
—
112.6
—
0
17
5
36
1.39
0.38
1.2
1.1
—
—
—
0
0
5
36
1.39
0.38
1.2
1.1
—
—
—
0
0
5
37
1.36
0.37
1.2
1.1
—
—
—
0
0
5
37
1.36
0.37
1.2
1.1
—
—
—
0
0
5
37
1.36
0.37
1.2
1.1
—
—
—
0
0
9
71
1.27
0.36
3.2
3.0
4.8
62.2
u/ml
—
9
64
97
895
1.11
0.36
2.0
2.3
—
—
—
0
0
47
415
1.15
0.35
1.5
2.0
—
—
—
0
0
55
492
1.13
0.34
1.4
1.5
—
—
—
0
0
27
228
1.20
0.34
8.6
5.5
68.1
67.5
ng/l
0.02
27
218
15
188
0.79
0.34
1.3
1.4
—
—
—
0
0
11
144
0.76
0.34
1.2
1.3
—
—
—
0
0
12
154
0.77
0.32
1.8
1.5
—
—
—
0
0
24
202
1.20
0.31
2.0
1.9
4.3
6.3
u/l
1.79
15
160
244
2521
0.93
0.30
2.7
3.3
31.3
39.6
u/l
3.11
229
2425
46
412
1.13
0.29
3.4
2.6
2.4
2.4
mmol/l
0.06
40
356
324
3166
1.08
0.29
4.2
4.3
1.9
1.9
mu/l
0.00
302
2936
27
312
0.86
0.29
3.4
3.6
33.0
31.0
%
0.51
21
217
11
85
1.30
0.28
1.4
2.0
—
—
—
0
0
19
226
0.83
0.28
1.5
2.0
—
—
—
0
0
8
63
1.27
0.28
1.4
1.8
—
—
—
0
0
8
67
1.20
0.26
1.4
1.4
—
—
—
0
0
20
169
1.19
0.26
1.1
1.2
0.7
2.3
u/ml
1.30
12
91
150
1569
0.93
0.26
5.5
6.8
11.7
12.9
umol/l
0.38
142
1496
33
293
1.14
0.25
5.4
6.3
—
—
—
0
0
128
1218
1.07
0.24
1.7
1.8
—
—
—
0
0
9
77
1.17
0.24
1.6
1.3
—
—
—
0
0
9
77
1.17
0.24
1.6
1.3
—
—
—
0
0
316
3095
1.07
0.24
3.3
3.2
1.2
1.3
mmol/l
0.26
297
2918
103
973
1.08
0.24
2.1
2.4
—
—
—
0
0
5
40
1.25
0.22
1.2
1.1
—
—
—
0
0
5
41
1.22
0.22
1.2
1.9
—
—
—
0
0
43
392
1.11
0.22
2.7
2.5
19.9
24.1
%
1.63
37
353
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
2.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
11
89
1.24
0.21
1.4
1.9
—
—
—
0
0
0
13
0.00
0.21
0.0
1.9
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
69
646
1.08
0.21
4.0
4.0
1.6
2.1
ug/l
0.43
64
573
6
48
1.25
0.20
1.3
1.8
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
581.1
—
0
9
0
14
0.00
0.20
0.0
1.0
—
44.6
—
0
8
9
111
0.81
0.20
1.7
1.9
—
—
—
0
0
285
2792
1.05
0.20
4.5
4.3
37.7
38.0
mmol/mol
0.27
276
2642
13
109
1.20
0.18
1.4
2.2
—
—
—
0
0
81
854
0.94
0.18
4.2
3.4
0.0
0.0
estimate
0.50
28
316
10
121
0.82
0.18
3.4
1.6
—
—
—
0
0
6
77
0.78
0.15
1.5
1.3
17.9
3.5
ug/l
—
6
70
122
1263
0.95
0.15
3.8
3.2
—
—
—
0
0
100
962
1.05
0.14
2.8
3.0
19.7
31.1
ng/l
1.09
56
527
54
571
0.94
0.14
1.4
1.4
21.8
19.5
nmol/l
0.62
46
490
8
100
0.80
0.13
1.3
1.1
—
—
—
0
0
307
3032
1.04
0.12
3.4
3.4
5.6
5.7
mmol/l
0.17
286
2797
75
781
0.95
0.12
3.9
3.2
1.0
1.0
kg/l
0.30
11
110
10
116
0.86
0.12
3.4
1.6
—
95.9
—
0
18
39
367
1.07
0.11
2.8
2.6
0.7
0.7
ug/l
0.07
25
204
12
106
1.14
0.10
1.4
2.0
—
—
—
0
0
5
48
1.04
0.09
1.6
1.3
—
—
—
0
0
6
54
1.11
0.09
1.0
1.2
—
—
—
0
0
6
54
1.11
0.09
2.3
1.6
0.0
0.0
g/l
—
6
54
6
54
1.11
0.09
1.3
1.5
—
—
—
0
0
6
54
1.11
0.09
2.3
1.6
0.0
0.0
g/l
—
6
54
115
1124
1.03
0.08
1.6
1.5
0.8
2.4
u/ml
2.03
25
269
7
64
1.10
0.08
1.1
1.3
—
—
—
0
0
7
67
1.05
0.08
2.1
1.5
3.1
2.9
g/l
—
7
60
323
3256
0.97
0.07
3.8
3.7
2.7
2.8
mmol/l
0.81
302
3052
6
72
0.83
0.07
1.0
1.6
—
—
—
0
0
6
74
0.81
0.07
1.0
1.1
—
—
—
0
0
8
74
1.08
0.07
2.0
1.5
—
—
—
0
0
8
75
1.07
0.07
5.4
2.5
—
—
—
0
0
7
82
0.85
0.07
5.4
1.5
—
—
—
0
0
333
3309
1.02
0.06
3.5
3.6
—
—
—
0
0
62
603
1.03
0.06
1.5
1.8
1.4
1.4
%
0.09
57
547
19
178
1.07
0.05
12.8
13.6
1.4
1.2
mg/l
0.73
19
170
31
297
1.05
0.05
1.0
1.0
—
—
—
0
0
49
504
0.97
0.04
3.5
3.8
27.6
20.1
%
1.07
18
199
40
387
1.04
0.04
1.9
1.6
1017.1
1195.2
nmol/l
0.56
23
311
10
91
1.10
0.04
1.7
2.4
0.8
0.7
nmol/l
—
10
78
17
160
1.06
0.04
1.5
1.5
4.6
3.4
mg/l
0.36
12
108
78
792
0.98
0.03
1.5
1.7
1.3
1.3
mmol/l
0.02
67
701
79
797
0.99
0.01
2.4
2.6
2.6
2.9
mg/l
0.78
68
707
322
3213
1.01
0.01
3.6
3.5
1.4
1.4
mmol/l
0.00
304
3028
162
1613
1.01
0.00
2.8
2.9
81.4
91.3
ug/l
0.53
150
1519
12
126
0.95
0.00
1.3
1.6
—
192.0
—
0
5
16
155
1.03
0.00
2.5
3.1
0.0
0.1
e6/l
2.05
16
147
32
315
1.02
0.00
3.2
5.2
221.5
253.3
u/l
1.34
32
304
323
3233
1.00
0.00
3.6
3.5
4.5
4.6
mmol/l
1.25
309
3054
8
81
0.99
0.00
2.0
1.6
—
—
—
0
0
5
57
0.88
0.00
1.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
2.9
—
—
—
0
0
6
69
0.87
0.00
1.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
10.6
—
—
—
0
0
0
5
0.00
0.00
0.0
3.2
—
4.8
—
0
5
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
9.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
6
59
1.02
0.00
2.3
1.6
0.0
0.0
g/l
—
6
59
6
66
0.91
0.00
4.8
4.8
297.6
386.9
umol/l
—
6
60
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
3.2
—
59.2
—
0
6
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST | 1.107 [0.86, 1.42] | 0.422 |
| Birth year | 0.984 [0.97, 0.99] | 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 83 out of 4624 males with Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.219% |
| 5 | No data | 1.212% |
| 10 | No data | 3.016% |
| 15 | No data | 5.71% |
| 20 | No data | 9.419% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST – Congenital musculoskeletal deformities of head, face, spine and chest
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