No definition available.
Other chromosome abnormalities, not elsewhere classified
Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED
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. |
184 |
4. Check minimum number of eventsNone |
184 |
5. Include endpointsNone |
184 |
6. Filter based on genotype QC (FinnGen only) |
157 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q9
- Name in latin
- Aliae abnormitates chromosomales non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Other chromosome abnormalities, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Chromosomal abnormalities, not elsewhere classified
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- 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 | 2451 | 1010 | 1439 |
| Only index persons | 1621 | 699 | 922 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.03 | 0.04 |
| Only index persons | 0.03 | 0.03 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 8.59 | 10.07 | 7.51 |
| Only index persons | 15.21 | 17.61 | 13.39 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 157 | 93 | 64 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | 21.84 | 30.97 | 8.57 |
-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
- 172
- Matched controls
- 1720
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q99.8
ICD-10 Finland
Other specified chromosome abnormalities
+∞
152.8
123
*
Z31.5
ICD-10 Finland
Genetic counselling
23.6
102.8
105
107
Q99.2
ICD-10 Finland
Fragile X chromosome
+∞
36.8
34
*
F83
ICD-10 Finland
Mixed specific developmental disorders
8.1
24.5
37
56
R62.0
ICD-10 Finland
Delayed milestone
6.3
19.9
39
77
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
6.5
19.0
35
65
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
18.3
18.2
28
18
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.9
15.0
60
209
Q99.9
ICD-10 Finland
Chromosomal abnormality, unspecified
+∞
14.8
14
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
30.2
14.6
19
7
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.0
14.2
35
84
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.4
12.9
37
100
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
3.9
12.5
45
144
N03AG01
ATC
valproic acid; systemic, rectal
5.0
12.2
29
67
R56.8
ICD-10 Finland
Other and unspecified convulsions
4.6
12.2
33
85
P85
ICPC
Mental retardation
14.0
12.0
20
16
F82
ICD-10 Finland
Specific developmental disorder of motor function
6.0
11.7
22
41
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
4.5
10.5
28
71
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
3.8
10.3
37
117
UDH02
NOMESCO Finland
Rhinopharyngoscopy
5.1
9.8
22
48
N05BA09
ATC
clobazam; oral
12.4
9.8
17
15
XA800
NOMESCO Finland
Neuropsychological investigation
3.8
9.5
33
102
R1260
NOMESCO Finland
Evaluation of communicative skills
14.8
9.4
15
11
Z2445
NOMESCO Finland
Psychologist
3.5
9.1
36
121
EBA15
NOMESCO Finland
Extraction of multiple teeth
5.4
9.1
19
39
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
15.1
8.9
14
10
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
9.8
8.8
17
19
N03AX14
ATC
levetiracetam; systemic
8.1
8.7
19
26
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
94.5
8.5
9
*
R1250
NOMESCO Finland
Evaluation of functional capability
10.2
8.5
16
17
R1410
NOMESCO Finland
Drawing up a rehabilitation plan
13.9
8.0
13
10
R4120
NOMESCO Finland
Occupational therapy
3.4
7.8
31
104
R4110
NOMESCO Finland
Physiotherapy
2.5
7.7
71
377
F80.1
ICD-10 Finland
Expressive language disorder
4.8
7.6
18
41
F79.1
ICD-10 Finland
Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment
16.7
7.3
11
7
N05CD08
ATC
midazolam; nasal, systemic
4.6
6.9
17
40
R1210
NOMESCO Finland
Medical assessment of need and possibilities to rehabilitation
11.6
6.9
12
11
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.6
6.9
49
228
N05AX08
ATC
risperidone; systemic
3.6
6.7
23
70
183
Kela drug reimbursment
Lamotrigin and topiramate
9.3
6.7
13
15
N88
ICPC
Epilepsy
12.9
6.7
11
9
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.6
6.6
45
204
G40.59
ICD-10 Finland
Other special epileptic syndromes
72.4
6.5
7
*
H52.2
ICD-10 Finland
Astigmatism
4.2
6.4
18
47
H50.1
ICD-10 Finland
Divergent concomitant strabismus
18.9
6.3
9
5
3046, ,
Kela drug reimbursment
27.8
6.3
8
*
Q93.8
ICD-10 Finland
Other deletions from the autosomes
+∞
6.3
6
*
N03AX09
ATC
lamotrigine; oral
3.8
6.1
19
54
WX402
NOMESCO Finland
General anaesthesia
2.3
6.1
64
354
A28
ICPC
Limited function/disability NOS
3.2
6.0
25
86
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
16
17
10.25
8.48
1.0
1.0
—
—
—
0
0
54
302
2.15
4.82
2.6
2.5
199.87
401.38
u/l
0.73
54
296
8
9
9.25
4.32
3.3
2.2
16.97
26.66
umol/l
—
8
9
7
7
10.35
4.04
2.6
3.6
17.84
19.79
umol/l
—
7
7
23
104
2.40
3.33
2.2
1.5
485.83
339.51
mu/l
0.73
23
95
30
156
2.12
3.14
2.8
2.1
13.38
16.13
iu/l
0.30
23
117
43
259
1.88
2.99
2.9
7.3
29.46
31.09
s
1.33
43
259
13
48
2.85
2.78
2.4
3.8
14.50
6.38
index
—
8
34
23
113
2.20
2.77
3.0
2.3
7.89
7.17
u/l
0.06
13
71
48
312
1.75
2.58
2.1
4.6
1.47
1.93
mg/l
0.23
38
240
66
471
1.65
2.51
5.8
5.4
27.64
37.16
u/l
2.46
66
456
7
19
3.79
2.17
1.7
1.1
—
—
—
0
0
6
14
4.40
2.17
5.2
2.4
603.50
914.00
u/ml
—
6
14
123
1045
1.62
2.14
11.9
13.8
3.48
3.67
e9/l
0.39
106
861
0
57
0.00
2.10
0.0
1.1
—
—
—
0
0
21
112
2.00
2.07
4.5
2.3
1319.23
4752.16
u/l
—
9
38
9
32
2.91
2.03
1.7
1.2
—
—
—
0
0
7
23
3.13
1.82
1.6
1.9
—
—
—
0
0
31
197
1.70
1.79
3.5
4.4
0.21
0.20
g/l
0.51
31
190
6
18
3.41
1.76
5.8
3.1
20.27
18.71
ug/l
—
6
18
50
360
1.55
1.75
6.3
12.3
1.29
1.34
mmol/l
0.62
50
340
54
397
1.53
1.72
13.9
18.2
24.47
24.60
mmol/l
0.14
54
397
20
113
1.87
1.69
20.3
23.6
-0.00
0.61
mmol/l
0.35
13
100
6
19
3.23
1.67
1.0
1.3
—
—
—
0
0
8
32
2.57
1.62
4.4
6.5
1.81
2.35
ug/l
—
8
32
20
325
0.56
1.61
2.6
2.5
—
—
—
0
0
21
124
1.79
1.56
3.4
8.7
2.73
2.86
g/l
0.19
21
119
65
509
1.45
1.49
3.0
4.5
0.31
0.34
e6/l
0.04
48
364
33
225
1.58
1.46
3.4
3.9
878.29
727.57
ng/l
0.11
22
148
13
67
2.02
1.42
1.5
1.5
—
—
—
0
0
13
67
2.02
1.42
1.5
1.5
—
—
—
0
0
35
244
1.55
1.41
2.0
3.5
13.50
14.02
umol/l
0.16
35
238
72
580
1.42
1.40
3.6
4.6
—
—
—
0
0
9
41
2.26
1.39
1.2
1.5
0.37
0.28
nmol/l
—
9
31
33
228
1.55
1.38
2.8
2.1
—
—
—
0
0
24
154
1.65
1.35
3.6
9.9
99.92
88.21
%
1.22
24
154
9
43
2.15
1.32
6.2
3.2
18.32
31.95
u/ml
—
9
43
28
188
1.58
1.32
2.2
2.0
—
—
—
0
0
32
222
1.54
1.31
1.9
3.6
2.46
2.52
g/l
0.35
32
216
5
18
2.83
1.29
1.0
1.2
—
—
—
0
0
5
18
2.83
1.29
1.0
1.2
—
—
—
0
0
5
18
2.83
1.29
1.0
1.2
—
—
—
0
0
5
18
2.83
1.29
1.0
1.2
—
—
—
0
0
5
18
2.83
1.29
1.0
1.2
—
—
—
0
0
20
304
0.61
1.24
2.2
2.3
—
—
—
0
0
6
128
0.45
1.22
1.5
1.1
—
3.98
—
0
5
47
359
1.43
1.21
4.5
11.8
0.98
0.83
mmol/l
0.12
36
280
130
1404
0.70
1.17
4.0
4.1
—
—
—
0
0
26
177
1.55
1.16
16.1
16.1
104.77
105.40
mmol/l
0.29
26
177
38
282
1.45
1.14
3.4
3.0
18.92
37.90
ng/l
0.56
22
132
15
89
1.75
1.12
2.0
1.6
—
—
—
0
0
5
21
2.42
1.10
1.0
1.0
—
—
—
0
0
10
52
1.98
1.08
1.9
5.3
—
—
—
0
0
7
33
2.17
1.07
1.0
1.1
—
—
—
0
0
5
23
2.21
0.98
1.2
3.0
0.00
1.47
g/l
—
5
23
9
51
1.81
0.96
1.7
5.4
17.22
9.94
%
—
9
51
6
28
2.18
0.92
1.0
1.1
—
—
—
0
0
6
28
2.18
0.92
3.2
2.3
102.83
131.04
ng/l
—
6
28
7
129
0.52
0.92
1.1
1.8
—
3.30
—
0
95
42
330
1.36
0.91
2.9
4.4
3.60
1.71
e6/l
0.58
23
179
6
114
0.51
0.86
1.2
1.2
—
—
—
0
0
10
57
1.80
0.85
1.9
1.6
—
—
—
0
0
51
417
1.32
0.85
1.6
1.9
95.37
95.99
pmol/l
0.03
25
228
72
619
1.28
0.83
3.6
3.8
—
—
estimate
—
0
0
10
58
1.77
0.81
9.8
13.0
75.20
570.89
iu/ml
—
5
9
10
58
1.77
0.81
3.4
6.5
59.02
54.18
%
—
10
58
0
24
0.00
0.80
0.0
5.0
—
—
—
0
0
17
116
1.52
0.78
5.5
2.1
7.11
10.64
nmol/l
1.24
17
104
25
185
1.41
0.77
2.6
2.1
—
—
—
0
0
11
67
1.69
0.77
1.2
1.4
—
—
—
0
0
12
182
0.63
0.76
1.0
1.1
—
—
—
0
0
5
25
2.03
0.73
1.2
2.9
2.64
2.89
g/l
—
5
25
5
25
2.03
0.73
1.2
2.9
6.18
7.37
g/l
—
5
25
5
25
2.03
0.73
1.2
2.9
3.92
4.96
g/l
—
5
25
5
25
2.03
0.73
1.2
2.9
2.78
3.65
g/l
—
5
25
86
765
1.25
0.72
3.6
3.8
0.00
0.00
estimate
-0.00
17
131
10
156
0.62
0.71
1.3
1.3
16.85
1.89
u/ml
—
10
121
21
154
1.41
0.69
1.0
1.4
116.00
118.49
u/ml
—
5
57
7
43
1.65
0.67
4.3
1.5
48.14
41.87
u/l
—
7
38
41
336
1.29
0.67
3.5
4.1
1.47
0.54
e6/l
1.25
23
184
157
1509
1.46
0.67
19.0
15.3
22.07
22.70
mg/l
0.11
128
1151
7
44
1.62
0.66
1.1
1.1
—
13.86
—
0
7
43
356
1.28
0.65
16.4
11.9
0.47
0.98
mmol/l
0.55
34
258
85
762
1.23
0.64
3.7
3.9
0.00
0.00
estimate
-0.00
16
129
153
1468
1.38
0.62
25.1
20.5
13.56
13.32
%
1.42
153
1461
5
30
1.69
0.62
1.0
1.1
—
—
—
0
0
0
23
0.00
0.58
0.0
1.1
—
—
—
0
0
84
758
1.21
0.58
3.5
3.8
0.00
0.00
estimate
-0.00
15
133
6
36
1.69
0.57
1.5
1.3
—
—
—
0
0
31
251
1.29
0.56
1.4
1.6
—
—
—
0
0
6
39
1.56
0.53
2.2
1.8
—
—
—
0
0
12
83
1.48
0.53
2.6
18.2
0.58
0.60
%
0.11
12
83
10
67
1.52
0.51
1.5
1.5
—
—
—
0
0
12
84
1.46
0.51
2.6
18.1
0.98
1.35
%
0.96
12
84
59
663
0.83
0.51
1.7
2.0
—
—
—
0
0
43
368
1.22
0.50
3.6
3.6
—
—
—
0
0
43
368
1.22
0.50
2.7
3.0
0.00
0.00
estimate
-0.00
14
103
58
513
1.20
0.48
3.6
3.1
0.00
0.01
estimate
0.50
12
114
7
47
1.51
0.48
1.6
1.3
—
—
—
0
0
12
86
1.43
0.46
1.3
1.9
—
—
—
0
0
7
50
1.42
0.45
3.6
15.6
—
3004.25
—
0
8
6
93
0.63
0.43
1.2
1.6
—
—
—
0
0
5
32
1.58
0.42
2.6
1.9
—
—
—
0
0
164
1662
0.72
0.42
31.2
24.7
39.41
39.41
%
0.00
164
1657
13
171
0.74
0.42
2.2
2.1
—
—
—
0
0
101
945
1.17
0.42
15.3
10.8
99.36
97.32
ml/min/173m2
0.39
82
794
0
15
0.00
0.41
0.0
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
7.3
—
1904900.00
—
0
5
0
16
0.00
0.41
0.0
7.3
—
—
—
0
0
12
88
1.39
0.41
2.3
2.3
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
219.15
—
0
17
27
225
1.24
0.40
3.4
7.2
5.70
6.88
umol/l
0.31
22
191
11
80
1.40
0.39
34.1
25.0
1.32
1.09
%
0.34
11
80
9
67
1.36
0.39
2.1
2.1
—
—
—
0
0
5
36
1.40
0.38
3.4
2.0
—
—
—
0
0
9
68
1.34
0.38
2.1
6.1
1.24
1.23
mmol/l
—
9
61
11
81
1.38
0.37
34.1
24.7
0.55
0.69
%
0.79
11
81
41
362
1.17
0.35
3.8
3.6
0.00
0.00
estimate
-0.00
16
125
6
90
0.65
0.33
1.5
1.1
—
53.18
—
0
10
6
46
1.32
0.33
1.3
1.6
—
—
—
0
0
67
621
1.13
0.29
1.6
1.8
4.29
2.84
u/ml
0.15
17
111
46
418
1.14
0.27
2.9
3.2
2.49
2.40
mg/l
0.12
41
380
11
86
1.30
0.27
2.0
2.2
—
—
—
0
0
53
487
1.13
0.26
2.6
2.1
1.38
1.27
mmol/l
0.38
47
454
30
265
1.16
0.26
6.3
12.6
0.78
0.80
mmol/l
0.72
30
258
17
144
1.20
0.23
1.1
1.5
516.55
489.84
pmol/l
0.18
11
132
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
11.9
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
36
328
1.12
0.20
3.9
3.0
1.02
1.02
kg/l
0.21
28
215
7
58
1.22
0.18
1.3
1.7
—
—
—
0
0
7
61
1.15
0.18
1.1
2.3
—
—
—
0
0
6
77
0.77
0.16
3.7
4.2
29.83
31.05
%
—
6
55
9
78
1.16
0.15
6.4
5.0
—
—
—
0
0
25
227
1.12
0.15
4.0
3.8
32.12
80.41
mg/mmol
0.28
17
153
21
228
0.91
0.10
1.4
1.3
11.02
23.20
iu/ml
—
5
54
11
96
1.16
0.10
2.3
3.0
—
—
—
0
0
20
217
0.91
0.10
1.5
1.3
4.94
5.82
u/ml
—
8
77
6
53
1.14
0.09
1.7
1.6
36.97
53.10
ug/l
—
6
53
6
55
1.09
0.09
1.7
1.6
—
—
—
0
0
6
56
1.07
0.09
2.2
2.1
—
—
—
0
0
19
205
0.92
0.08
2.2
2.2
—
—
—
0
0
14
127
1.11
0.08
2.1
2.1
—
18.71
—
0
7
9
101
0.89
0.06
2.3
1.8
—
—
—
0
0
10
93
1.08
0.02
1.2
2.0
—
—
—
0
0
11
103
1.07
0.02
1.2
2.2
—
—
—
0
0
11
111
0.99
0.00
1.2
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
3.9
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
227.60
—
0
5
5
54
0.92
-0.00
1.0
2.0
—
66.33
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
59
0.84
-0.00
1.2
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.0
—
—
—
0
0
7
70
1.00
-0.00
2.6
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
6
61
0.98
-0.00
1.0
1.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
5
58
0.86
-0.00
1.2
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.7
—
—
—
0
0
6
62
0.97
-0.00
2.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
89
0.89
-0.00
1.9
1.6
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED | 5.266 [3.59, 7.72] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 81 out of 1126 males with Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 1.035% |
| 5 | No data | 6.0% |
| 10 | No data | 13.624% |
| 15 | No data | 24.885% |
| 20 | No data | 40.393% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Other chromosome abnormalities, not elsewhere classified
GWS hits: 1
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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