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Other chromosome abnormalities, not elsewhere classified

Endpoint Browser PheWeb

Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Endpoint definition

↥

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q99
  • Cause of death: ICD-10 — Q99

2 out of 7 registries used, show all original rules.

151

4. Check minimum number of events

None

151

5. Include endpoints

None

151

6. Filter based on genotype QC (FinnGen only)

151

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

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

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 151 90 61
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 20.93 30.10 7.40

-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
140
Matched controls
1400
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q99.8
ICD-10 Finland
Other specified chromosome abnormalities
+∞
124.1
100
*
Z31.5
ICD-10 Finland
Genetic counselling
24.5
50.8
78
68
Q99.2
ICD-10 Finland
Fragile X chromosome
+∞
29.2
27
*
F83
ICD-10 Finland
Mixed specific developmental disorders
9.9
15.1
31
39
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.7
12.7
49
143
Q99.9
ICD-10 Finland
Chromosomal abnormality, unspecified
+∞
12.7
12
*
R62.0
ICD-10 Finland
Delayed milestone
7.2
12.1
30
51
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
19.1
11.5
17
10
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
7.2
10.3
25
41
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.6
10.0
30
65
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.1
8.8
28
65
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
21.7
8.6
12
6
R56.8
ICD-10 Finland
Other and unspecified convulsions
5.5
8.5
25
53
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
4.8
8.3
28
69
XA800
NOMESCO Finland
Neuropsychological investigation
4.6
8.0
28
72
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
3.8
7.5
33
105
R1260
NOMESCO Finland
Evaluation of communicative skills
17.8
6.8
10
6
F79.1
ICD-10 Finland
Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment
+∞
6.3
6
*
N03AG01
ATC
valproic acid; systemic, rectal
5.3
6.2
18
38
F80.1
ICD-10 Finland
Expressive language disorder
7.8
6.1
13
18
H01AC01
ATC
somatropin; parenteral
6.3
6.0
15
26

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
11
20
5.86
5.90
1.1
1.1
—
—
—
0
0
90
625
2.10
4.64
14.1
13.4
1.2
1.2
mmol/l
1.07
85
582
47
272
2.06
3.83
3.2
3.8
7.4
7.4
ph
—
5
42
81
584
1.84
3.33
7.4
10.5
—
—
—
0
0
6
7
8.86
3.29
3.2
2.4
16.3
28.7
umol/l
—
6
7
22
101
2.38
3.11
2.6
1.9
13.1
18.4
iu/l
0.45
16
78
12
41
3.09
2.93
2.3
3.5
—
—
—
0
0
5
6
8.56
2.77
1.4
1.0
—
—
—
0
0
45
284
1.84
2.75
3.3
6.4
1.0
1.1
inr
—
8
77
75
550
1.73
2.74
2.6
2.6
—
—
—
0
0
18
81
2.39
2.66
2.1
1.4
549.9
329.5
mu/l
0.95
18
74
17
76
2.39
2.55
2.9
2.1
8.9
8.0
u/l
—
10
52
96
788
1.61
2.03
8.2
9.5
0.0
0.0
e9/l
0.16
85
646
96
789
1.60
2.01
8.3
9.5
0.6
0.6
e9/l
0.28
87
648
98
810
1.61
2.00
8.3
10.4
0.2
0.2
e9/l
0.65
89
687
42
285
1.66
1.94
5.8
11.8
1.3
1.4
mmol/l
0.77
42
268
0
51
0.00
1.93
0.0
1.1
—
—
—
0
0
93
765
1.57
1.89
8.5
9.7
2.9
3.1
%
0.41
93
731
95
786
1.57
1.87
8.1
9.5
50.6
49.5
%
0.32
95
759
39
263
1.65
1.84
3.4
4.5
—
—
—
0
0
16
81
2.09
1.82
3.9
2.5
876.5
5895.2
u/l
—
6
27
103
871
1.58
1.82
10.6
12.7
3.5
3.7
e9/l
0.26
91
731
7
23
3.14
1.82
2.4
4.3
—
—
—
0
0
93
771
1.54
1.78
8.7
9.9
8.2
8.2
%
0.05
93
743
133
1205
1.92
1.76
13.2
12.5
54.4
58.7
umol/l
1.42
133
1205
97
813
1.55
1.75
8.4
9.5
2.4
2.5
e9/l
0.14
89
695
27
168
1.74
1.70
1.9
1.9
—
—
—
0
0
38
260
1.62
1.69
12.1
13.6
—
—
—
0
0
6
19
3.24
1.68
2.3
3.1
12.1
11.3
umol/l
—
6
19
19
107
1.89
1.64
1.3
1.8
—
—
—
0
0
5
15
3.41
1.53
3.6
2.5
—
—
—
0
0
5
15
3.41
1.53
6.6
3.5
18.2
18.5
ug/l
—
5
15
7
28
2.57
1.47
4.9
6.5
2.0
2.6
ug/l
—
7
28
6
22
2.80
1.45
1.8
3.9
—
—
—
0
0
94
801
1.46
1.43
8.6
9.6
33.8
35.8
%
0.87
94
777
9
40
2.33
1.43
1.7
4.7
65.0
62.3
%
—
9
40
136
1258
1.87
1.42
13.4
10.3
—
—
—
0
0
24
153
1.68
1.39
3.2
4.5
0.2
0.2
g/l
0.63
24
146
0
40
0.00
1.35
0.0
1.4
—
—
—
0
0
30
206
1.57
1.31
2.7
7.9
29.6
31.5
s
1.02
30
206
5
18
2.84
1.29
1.2
1.2
—
—
—
0
0
39
285
1.50
1.29
4.4
10.8
1.0
1.1
mmol/l
0.14
27
212
46
351
1.45
1.23
2.7
3.5
—
—
—
0
0
5
19
2.69
1.22
2.4
1.5
—
—
—
0
0
14
79
1.85
1.21
24.9
20.0
0.3
0.9
mmol/l
—
8
66
43
325
1.45
1.20
13.9
16.4
24.5
24.6
mmol/l
0.11
43
325
27
185
1.56
1.19
1.8
3.4
12.7
14.0
umol/l
0.56
27
179
5
20
2.55
1.16
3.6
1.8
110.6
139.2
ng/l
—
5
20
35
256
1.48
1.15
3.8
5.6
—
—
—
0
0
23
153
1.59
1.15
3.9
4.3
8.4
8.6
g/l
0.08
23
147
53
425
1.38
1.06
2.8
4.6
106.6
43.2
e6/l
0.31
45
333
9
46
2.02
1.06
24.4
26.2
—
—
—
0
0
86
745
1.36
1.05
9.1
12.0
0.0
0.0
e9/l
0.66
73
562
5
22
2.31
1.04
4.6
4.1
54.4
53.8
%
—
5
22
7
35
2.05
1.01
1.0
1.1
—
—
—
0
0
37
282
1.41
0.98
2.0
2.5
—
—
—
0
0
9
51
1.81
0.96
2.9
16.9
1.2
1.5
%
—
9
51
24
326
0.69
0.90
3.3
2.1
—
—
—
0
0
6
29
2.11
0.90
1.5
1.3
0.5
0.4
g/l
—
6
24
6
29
2.11
0.90
1.5
1.3
—
—
—
0
0
12
72
1.72
0.88
1.4
1.9
—
—
—
0
0
39
306
1.37
0.88
2.4
3.1
2.7
2.6
mg/l
0.17
34
272
6
113
0.51
0.87
1.3
1.3
—
—
—
0
0
58
485
1.32
0.86
1.7
1.7
1.8
1.6
g/l
0.53
35
235
21
147
1.50
0.86
2.8
2.0
—
—
—
0
0
60
505
1.31
0.85
3.7
5.5
28.1
29.9
e6/l
0.04
46
346
48
395
1.32
0.79
3.3
4.5
0.3
0.4
e6/l
0.01
40
303
14
91
1.59
0.78
1.6
1.3
—
—
—
0
0
57
481
1.30
0.78
7.3
9.8
—
—
—
0
0
7
38
1.88
0.74
1.7
4.3
19.3
24.1
%
—
7
38
31
241
1.36
0.74
2.5
4.9
1.9
1.2
mg/l
0.41
25
186
9
56
1.65
0.74
1.7
6.0
1.2
1.2
mmol/l
—
9
50
7
40
1.79
0.72
4.4
2.0
—
—
—
0
0
28
215
1.37
0.72
2.6
2.9
21.7
42.5
ng/l
0.42
15
96
5
27
1.88
0.69
1.2
1.3
—
—
—
0
0
5
28
1.81
0.67
5.4
6.3
—
—
—
0
0
5
28
1.81
0.67
1.2
3.3
—
—
—
0
0
23
174
1.38
0.65
3.3
4.0
321.5
696.0
ng/l
0.84
17
119
94
858
1.26
0.64
2.9
3.0
5.6
5.6
mmol/l
0.04
88
795
16
113
1.47
0.64
1.0
1.3
116.0
118.8
iu/ml
—
5
42
0
21
0.00
0.60
0.0
4.1
—
0.3
—
0
7
0
22
0.00
0.60
0.0
1.0
—
—
—
0
0
26
204
1.33
0.59
5.2
12.8
0.8
0.8
mmol/l
0.26
26
197
0
23
0.00
0.59
0.0
1.0
—
—
—
0
0
5
90
0.54
0.57
1.8
2.4
5.7
4.2
e9/l
—
5
85
79
864
0.82
0.55
4.1
3.4
1.4
1.5
mmol/l
1.07
74
816
63
559
1.22
0.53
3.3
3.5
0.0
0.0
estimate
—
7
95
62
551
1.21
0.51
4.6
5.4
0.0
0.0
estimate
—
8
99
80
870
0.83
0.51
4.1
3.5
2.8
2.8
mmol/l
0.13
74
822
55
484
1.22
0.50
1.5
1.7
4.8
1.9
u/ml
0.29
15
78
62
553
1.21
0.49
3.4
3.7
0.0
0.0
estimate
—
8
97
23
285
0.77
0.49
1.9
1.8
—
—
—
0
0
7
46
1.55
0.49
1.7
4.6
20.0
17.1
%
—
7
46
15
111
1.39
0.49
1.0
1.4
500.2
525.9
pmol/l
—
9
100
17
130
1.35
0.46
2.3
2.3
1.1
1.1
g/l
0.03
17
124
7
50
1.42
0.45
48.3
28.1
0.9
1.1
%
—
7
50
32
269
1.24
0.44
14.7
12.0
—
—
—
0
0
7
51
1.39
0.44
48.3
27.6
0.5
0.7
%
—
7
51
20
158
1.31
0.44
3.3
3.4
276.9
114.3
mg/l
0.48
15
108
6
91
0.65
0.44
1.7
1.7
—
—
—
0
0
5
31
1.63
0.43
1.0
1.4
—
—
—
0
0
13
96
1.39
0.43
1.5
1.4
—
—
—
0
0
5
33
1.53
0.41
2.0
2.6
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
230.7
—
0
15
0
16
0.00
0.41
0.0
3.8
—
19.1
—
0
16
0
16
0.00
0.41
0.0
7.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
85
791
1.17
0.39
3.6
4.6
—
—
—
0
0
35
302
1.21
0.39
16.6
12.1
—
7.4
—
0
9
9
122
0.72
0.37
1.3
1.4
—
—
—
0
0
13
99
1.34
0.37
1.6
1.5
—
—
—
0
0
5
78
0.63
0.36
1.2
1.4
—
—
—
0
0
30
347
0.83
0.35
2.1
2.0
—
—
—
0
0
21
173
1.25
0.35
7.0
6.6
1.7
1.5
%
0.43
21
166
31
268
1.20
0.34
2.5
3.1
—
—
—
0
0
126
1298
0.82
0.34
22.7
17.3
38.0
38.8
%
0.60
112
1166
6
46
1.32
0.33
1.0
1.2
—
—
—
0
0
6
46
1.32
0.33
1.0
6.2
—
—
—
0
0
45
403
1.17
0.33
3.0
4.4
—
—
—
0
0
78
829
0.88
0.30
3.3
3.2
1.2
1.2
mmol/l
0.41
73
784
7
56
1.26
0.30
5.0
13.8
—
1.2
—
0
10
18
149
1.24
0.29
1.3
1.5
238.1
120.2
u/ml
0.51
18
138
5
71
0.69
0.27
1.2
1.4
—
—
—
0
0
25
219
1.17
0.24
1.3
1.2
—
—
—
0
0
36
396
0.88
0.23
1.7
1.8
—
—
—
0
0
14
116
1.23
0.23
1.2
1.2
—
—
—
0
0
21
182
1.18
0.23
3.5
7.0
6.1
7.9
umol/l
0.32
15
149
5
40
1.26
0.22
1.4
1.5
—
—
—
0
0
16
187
0.84
0.21
1.6
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
2.7
—
—
—
0
0
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
30
270
1.14
0.21
3.7
3.6
0.0
0.0
estimate
—
9
96
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
2.5
—
0
14
6
49
1.23
0.20
2.8
5.9
—
—
—
0
0
10
122
0.81
0.20
1.2
2.0
—
—
—
0
0
5
65
0.76
0.17
1.8
1.5
—
—
—
0
0
5
69
0.72
0.17
1.8
1.8
—
—
—
0
0
5
69
0.72
0.17
1.0
1.0
—
—
—
0
0
130
1276
1.14
0.16
16.4
13.5
22.2
23.0
mg/l
0.11
104
939
7
86
0.80
0.15
2.6
3.7
—
—
—
0
0
8
96
0.82
0.14
1.6
1.3
—
—
—
0
0
18
161
1.13
0.13
1.6
1.4
288.0
677.0
titre
—
5
27
36
384
0.92
0.13
1.6
1.8
—
—
—
0
0
14
124
1.14
0.11
9.0
5.3
87.4
66.8
e9/l
—
9
86
34
319
1.09
0.11
3.7
3.5
—
—
—
0
0
31
292
1.08
0.09
1.6
1.8
96.5
96.2
pmol/l
0.01
14
159
5
47
1.07
0.09
2.0
2.3
—
—
—
0
0
5
47
1.07
0.09
2.0
2.3
—
—
—
0
0
5
47
1.07
0.09
2.0
2.3
—
—
—
0
0
5
47
1.07
0.09
2.0
2.3
—
—
—
0
0
6
56
1.07
0.09
2.2
2.2
—
—
—
0
0
24
256
0.93
0.08
3.0
2.8
66.4
68.3
ug/g
0.04
19
208
5
62
0.80
0.08
1.4
1.4
—
—
—
0
0
5
62
0.80
0.08
1.4
1.4
—
—
—
0
0
5
64
0.77
0.08
8.0
3.1
—
—
—
0
0
21
225
0.92
0.08
1.5
1.8
—
—
—
0
0
6
70
0.85
0.08
1.5
1.2
—
—
—
0
0
9
100
0.89
0.06
1.6
1.3
—
—
—
0
0
11
121
0.90
0.06
1.7
2.0
—
—
—
0
0
34
349
0.97
0.02
1.9
1.9
—
—
—
0
0
16
164
0.97
0.00
1.6
1.2
7.4
6.6
u/ml
—
5
59
15
153
0.98
0.00
4.1
3.1
—
—
—
0
0
44
435
1.02
0.00
3.7
3.3
—
—
—
0
0
10
102
0.98
0.00
1.3
1.2
4.2
4.7
u/ml
—
5
37
5
52
0.96
0.00
1.0
6.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
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
—
7.7
—
0
5
0
5
0.00
0.00
0.0
15.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
224.8
—
0
5
0
5
0.00
0.00
0.0
1.2
—
83.2
—
0
5
5
58
0.86
0.00
2.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
8.2
—
0
5
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
8
84
0.95
0.00
1.5
1.4
—
—
—
0
0
8
87
0.92
0.00
1.0
1.0
—
—
—
0
0
7
74
0.94
0.00
1.1
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
10.9
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
10.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.4
—
3.6
—
0
9
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
9
99
0.90
0.00
1.6
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
3.6
—
—
—
0
0
5
56
0.89
0.00
1.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
9
99
0.90
0.00
1.6
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
9
99
0.90
0.00
1.6
1.3
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

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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