No definition available.
Balanced rearrangements and structural markers, not elsewhere classified
Q17_BALANC_REARR_STRUCTURAL_MARKERS_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. |
157 |
4. Check minimum number of eventsNone |
157 |
5. Include endpointsNone |
157 |
6. Filter based on genotype QC (FinnGen only) |
137 |
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
- Translocationes aequatae et signacula structuralia sine effectu ad phaenotypum non alibi classificata
Similar endpoints
↥List of similar endpoints to
Balanced rearrangements and structural markers, 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 prescribed medicine buy
- 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 | 1147 | 633 | 509 |
| Only index persons | 1063 | 592 | 471 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 27.61 | 28.64 | 26.27 |
| Only index persons | 28.42 | 28.93 | 27.79 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 137 | 94 | 43 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 31.65 | 29.56 | 36.23 |
-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
- 145
- Matched controls
- 1450
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Z31.5
ICD-10 Finland
Genetic counselling
52.3
134.3
101
61
Q95.0
ICD-10 Finland
Balanced translocation and insertion in normal individual
+∞
121.6
99
*
Q95.1
ICD-10 Finland
Chromosome inversion in normal individual
+∞
18.1
17
*
O35.1
ICD-10 Finland
Maternal care for (suspected) chromosomal abnormality in fetus
21.3
15.2
22
12
Q95.8
ICD-10 Finland
Other balanced rearrangements and structural markers
+∞
14.8
14
*
N96
ICD-10 Finland
Habitual aborter
55.3
13.1
15
*
MAA10
NOMESCO Finland
Biopsy of chorionic villus
118.2
10.6
11
*
Q95.2
ICD-10 Finland
Balanced autosomal rearrangement in abnormal individual
+∞
10.5
10
*
O02.1
ICD-10 Finland
Missed abortion
4.5
9.6
26
67
LC2AE
NOMESCO Finland
Ultrasound examination of uterus and parametria
4.0
9.6
32
97
R2110
NOMESCO Finland
Giving the first information
5.5
9.1
19
39
MA4AT
NOMESCO Finland
Chorion biopsy with ultrasound guidance
53.3
8.8
10
*
N97.9
ICD-10 Finland
Female infertility, unspecified
4.8
8.7
21
49
H01CA02
ATC
nafarelin; nasal
9.0
8.4
17
21
N97.8
ICD-10 Finland
Female infertility of other origin
9.8
8.3
16
18
N46
ICD-10 Finland
Male infertility
23.6
8.1
11
5
Z82.7
ICD-10 Finland
Family history of congenital malformations, deformations and chromosomal abnormalities
26.6
7.7
10
*
MAA00
NOMESCO Finland
Amniocentesis
8.0
7.4
16
22
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
6
0
+∞
6.29
1.3
0.0
—
—
—
0
0
19
63
3.32
4.88
1.7
1.4
—
—
—
0
0
13
43
3.22
3.34
1.7
1.5
0.40
0.46
nmol/l
0.15
13
35
26
139
2.06
2.57
1.2
1.3
57.55
112.79
u/ml
—
6
58
6
17
3.63
1.85
1.0
1.8
—
2744.72
—
0
5
72
565
1.54
1.81
2.7
3.0
—
—
estimate
—
0
0
5
13
3.94
1.73
1.2
1.1
—
—
—
0
0
5
14
3.66
1.63
1.2
1.1
—
—
—
0
0
5
14
3.66
1.63
1.2
1.1
—
—
—
0
0
5
14
3.66
1.63
1.2
1.1
—
—
—
0
0
19
108
1.87
1.60
1.6
1.6
—
—
—
0
0
15
79
2.00
1.56
1.1
1.3
—
—
—
0
0
5
15
3.41
1.53
1.2
1.1
—
—
—
0
0
5
17
3.01
1.37
1.2
1.2
—
—
—
0
0
97
843
1.46
1.30
6.1
7.2
73.33
74.26
u/l
0.08
92
799
16
94
1.79
1.23
1.8
1.7
—
—
—
0
0
34
245
1.51
1.21
1.7
1.6
965.49
952.46
mu/l
0.03
29
209
5
20
2.55
1.16
1.0
1.5
—
—
—
0
0
5
20
2.55
1.16
1.0
1.5
—
—
—
0
0
15
89
1.76
1.12
2.9
3.0
—
—
—
0
0
109
987
1.42
1.02
4.4
4.5
14.45
14.37
pmol/l
0.14
103
925
0
29
0.00
0.99
0.0
1.2
—
1.06
—
0
23
36
274
1.42
0.97
1.9
2.3
—
—
—
0
0
14
86
1.70
0.95
1.6
1.5
52.86
55.99
ug/l
0.11
14
86
6
28
2.19
0.92
1.8
1.2
502.17
257.57
mu/l
—
6
23
125
1168
1.51
0.91
5.2
5.1
1.66
1.75
mu/l
0.52
117
1115
22
157
1.47
0.83
1.5
1.5
—
—
—
0
0
82
728
1.29
0.77
3.0
3.4
72.18
73.99
ug/l
0.06
77
703
21
151
1.46
0.76
3.0
2.1
36934.22
5063.92
u/l
—
9
64
5
24
2.12
0.75
1.8
1.3
—
—
—
0
0
51
427
1.30
0.74
7.3
8.2
1.21
1.22
mmol/l
0.12
45
401
23
303
0.71
0.73
6.1
3.2
1.02
1.02
kg/l
0.14
17
200
33
410
0.75
0.73
3.0
2.4
0.00
0.03
estimate
0.74
11
116
12
77
1.61
0.71
2.9
5.3
24.55
24.27
mmol/l
0.16
12
77
5
29
1.75
0.64
1.0
1.0
—
—
—
0
0
110
1026
1.30
0.64
3.7
4.5
35.68
37.38
mmol/mol
1.66
101
987
19
252
0.72
0.63
4.7
4.2
7.26
11.20
mg/mmol
0.34
14
176
15
105
1.48
0.63
11.8
8.9
105.40
104.46
mmol/l
0.33
15
105
54
466
1.25
0.61
7.3
8.4
1.21
1.21
mmol/l
0.00
44
413
13
89
1.51
0.60
2.4
3.0
0.24
0.22
g/l
0.51
13
83
0
23
0.00
0.59
0.0
2.0
—
7.87
—
0
23
45
522
0.80
0.57
4.6
3.0
0.00
0.03
estimate
0.68
11
127
30
364
0.78
0.55
5.3
3.2
0.00
0.01
estimate
0.50
13
134
130
1248
1.40
0.55
12.4
12.0
21.09
19.98
mg/l
0.15
97
980
6
39
1.56
0.53
1.0
1.4
—
—
—
0
0
6
39
1.56
0.53
1.2
1.5
—
—
—
0
0
9
63
1.46
0.53
1.1
1.7
—
—
—
0
0
94
871
1.23
0.52
4.2
3.7
8.88
8.47
mm/h
0.10
86
812
31
257
1.26
0.48
2.3
2.1
—
—
—
0
0
13
94
1.42
0.48
1.0
1.1
—
—
—
0
0
7
50
1.42
0.45
1.4
1.4
—
—
—
0
0
11
78
1.44
0.44
6.4
8.6
26.58
25.09
mmol/l
1.08
11
78
14
183
0.74
0.44
1.0
1.6
391.71
443.47
pmol/l
0.59
14
172
5
31
1.63
0.43
1.4
1.3
—
—
—
0
0
5
31
1.63
0.43
1.6
1.5
37.20
48.86
pmol/l
—
5
31
18
226
0.77
0.43
1.2
1.3
1.23
7.22
u/ml
—
7
85
5
32
1.58
0.42
1.0
1.1
—
—
—
0
0
8
59
1.38
0.41
1.3
1.4
—
—
—
0
0
0
16
0.00
0.41
0.0
1.8
—
—
—
0
0
36
310
1.21
0.41
1.6
1.5
—
—
—
0
0
23
188
1.27
0.40
2.8
3.2
530.90
341.84
ng/l
—
10
99
0
18
0.00
0.40
0.0
1.0
—
—
—
0
0
0
19
0.00
0.39
0.0
2.1
—
—
—
0
0
26
218
1.23
0.37
2.0
2.0
—
—
—
0
0
62
675
0.86
0.36
4.6
3.4
0.00
0.00
estimate
-0.00
14
135
34
295
1.20
0.36
1.9
2.1
0.64
0.81
mg/l
0.36
29
215
50
450
1.17
0.35
1.8
1.8
—
—
—
0
0
6
47
1.29
0.32
25.5
19.1
0.78
0.73
%
—
6
47
36
317
1.18
0.32
4.1
2.6
0.19
0.31
e6/l
0.62
29
229
14
172
0.79
0.29
1.8
5.3
0.84
0.82
mmol/l
0.15
14
164
115
1110
1.17
0.29
3.9
4.0
—
—
—
0
0
8
63
1.29
0.28
1.8
2.1
—
—
—
0
0
109
1129
0.86
0.28
3.7
3.8
1.45
1.46
mmol/l
0.10
104
1084
8
65
1.24
0.27
4.1
5.6
1.31
0.89
mmol/l
—
8
52
13
160
0.79
0.27
1.7
1.9
—
—
—
0
0
5
74
0.66
0.26
2.4
1.8
4.56
2.70
mg/l
—
5
47
6
82
0.72
0.25
4.5
5.3
—
—
—
0
0
17
143
1.21
0.24
6.0
7.7
1.08
1.11
mmol/l
0.23
17
134
5
37
1.36
0.24
1.0
1.2
—
—
—
0
0
63
670
0.89
0.23
4.7
3.3
0.00
0.00
estimate
-0.00
14
141
5
38
1.33
0.23
1.0
1.2
—
—
—
0
0
101
1046
0.89
0.23
3.2
3.4
1.15
1.21
mmol/l
0.40
95
996
45
414
1.13
0.23
1.6
1.8
111.11
94.18
pmol/l
1.11
23
219
63
669
0.90
0.23
4.7
3.2
0.00
0.01
estimate
0.50
13
145
13
107
1.24
0.22
4.1
5.0
1.54
1.70
mmol/l
0.07
13
91
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
—
—
0
0
13
108
1.22
0.21
4.2
5.0
6.01
5.86
kpa
0.20
13
108
9
112
0.79
0.21
1.2
1.7
—
—
—
0
0
6
48
1.26
0.20
25.5
18.8
0.82
1.51
%
—
6
48
6
48
1.26
0.20
1.5
1.6
—
—
—
0
0
12
99
1.23
0.20
1.2
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
2.5
—
—
—
0
0
6
50
1.21
0.20
3.2
5.2
25.35
24.49
mmol/l
—
6
50
36
331
1.12
0.18
2.0
3.3
24.84
18.90
ng/l
0.22
14
157
10
118
0.84
0.15
1.3
1.7
—
—
—
0
0
38
405
0.92
0.14
2.2
2.4
—
—
—
0
0
43
405
1.09
0.14
1.6
1.4
2.29
1.39
u/ml
0.21
13
102
120
1180
1.10
0.11
11.8
12.5
3.92
3.90
mmol/l
0.20
114
1152
15
134
1.13
0.11
1.7
1.5
0.95
0.94
ratio
—
7
82
15
134
1.13
0.11
1.7
1.5
0.83
1.21
ratio
—
7
82
15
134
1.13
0.11
1.7
1.5
1.11
1.33
ratio
—
7
82
22
238
0.91
0.10
1.2
1.3
8.15
22.28
iu/ml
—
8
60
5
43
1.17
0.10
4.6
3.4
0.96
1.39
%
—
5
43
19
175
1.10
0.09
3.6
2.4
12.92
3.39
e6/l
0.77
12
73
15
136
1.11
0.09
2.4
1.8
358.73
395.21
nmol/l
0.46
15
126
8
75
1.07
0.07
1.0
1.1
1.52
1.59
g/l
—
8
75
8
76
1.06
0.07
1.0
1.1
0.83
0.86
g/l
—
8
76
8
90
0.88
0.07
2.1
2.5
0.14
0.16
e6/l
—
8
85
36
346
1.05
0.06
3.5
2.7
2.34
2.35
mmol/l
0.23
31
326
25
263
0.94
0.06
1.4
1.6
14.68
19.90
nmol/l
1.33
19
238
14
130
1.09
0.05
1.6
1.5
—
—
—
0
0
40
389
1.04
0.04
4.9
3.0
—
—
—
0
0
127
1279
0.94
0.03
9.4
9.5
24.92
26.52
u/l
0.45
122
1253
65
660
0.97
0.03
5.7
5.8
6.03
6.30
mmol/l
0.53
59
595
119
1181
1.04
0.03
11.7
12.5
139.50
139.56
mmol/l
0.13
113
1159
20
192
1.05
0.02
3.5
2.3
0.92
0.67
e6/l
0.36
13
92
109
1084
1.02
0.00
3.7
3.5
5.50
5.64
mmol/l
0.61
96
1022
113
1134
0.98
0.00
3.8
4.1
2.96
2.73
mmol/l
2.09
106
1090
112
1123
0.99
0.00
10.5
9.9
98.19
96.52
ml/min/173m2
0.38
94
995
38
375
1.02
0.00
2.1
2.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
83.17
—
0
6
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
10.58
—
0
6
0
6
0.00
0.00
0.0
2.3
—
4.66
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.8
—
15.60
—
0
5
5
59
0.84
-0.00
2.0
1.7
—
—
—
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
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
140
1393
1.15
-0.00
18.4
18.0
4.51
4.56
e12/l
0.75
135
1370
0
7
0.00
-0.00
0.0
1.0
—
81.71
—
0
7
73
730
1.00
-0.00
7.1
9.4
3.98
4.01
e9/l
0.05
58
632
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
13.06
—
0
5
5
59
0.84
-0.00
1.2
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
5.3
—
27.33
—
0
9
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
47
470
1.00
-0.00
1.6
1.8
1.37
1.37
mmol/l
0.00
35
420
Mortality – FinRegistry
↥Association
Association between endpoint Q17_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED.| 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_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED – Balanced rearrangements and structural markers, 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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