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 |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
165 |
4. Check minimum number of eventsNone |
165 |
5. Include endpointsNone |
165 |
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
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
- 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 | 151 | 89 | 62 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | 21.48 | 30.97 | 7.87 |
-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
- 164
- Matched controls
- 1640
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q99.8
ICD-10 Finland
Other specified chromosome abnormalities
+∞
146.8
118
*
Z31.5
ICD-10 Finland
Genetic counselling
24.1
98.9
98
95
Q99.2
ICD-10 Finland
Fragile X chromosome
+∞
33.5
31
*
F83
ICD-10 Finland
Mixed specific developmental disorders
8.5
24.0
35
51
R62.0
ICD-10 Finland
Delayed milestone
6.7
20.6
38
71
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
20.8
17.1
25
14
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.1
15.8
58
192
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
5.7
14.4
30
62
Q99.9
ICD-10 Finland
Chromosomal abnormality, unspecified
+∞
13.7
13
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.0
13.7
33
78
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.7
13.3
35
89
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.1
12.7
43
132
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
27.3
11.4
15
6
P85
ICPC
Mental retardation
17.1
11.1
17
11
XA800
NOMESCO Finland
Neuropsychological investigation
4.2
10.6
32
90
F82
ICD-10 Finland
Specific developmental disorder of motor function
5.9
10.4
20
38
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
4.7
9.8
25
61
R56.8
ICD-10 Finland
Other and unspecified convulsions
4.2
9.8
29
80
N03AG01
ATC
valproic acid; systemic, rectal
4.4
9.3
25
64
N05BA09
ATC
clobazam; oral
11.7
9.0
16
15
Z2445
NOMESCO Finland
Psychologist
3.5
8.7
34
114
UDH02
NOMESCO Finland
Rhinopharyngoscopy
4.8
8.4
20
46
N03AX14
ATC
levetiracetam; systemic
8.1
7.9
17
23
R1260
NOMESCO Finland
Evaluation of communicative skills
12.7
7.7
13
11
R1250
NOMESCO Finland
Evaluation of functional capability
10.8
7.7
14
14
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
83.7
7.5
8
*
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
12.8
7.2
12
10
N05AX08
ATC
risperidone; systemic
3.9
7.0
22
63
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
3.2
6.9
31
112
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
7.9
6.6
14
19
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.6
6.5
45
207
Z50.5
ICD-10 Finland
Speech therapy
3.9
6.4
20
57
Q93.8
ICD-10 Finland
Other deletions from the autosomes
+∞
6.3
6
*
EBA15
NOMESCO Finland
Extraction of multiple teeth
5.6
6.2
17
33
R4120
NOMESCO Finland
Occupational therapy
3.2
6.2
27
96
Z01.8
ICD-10 Finland
Other specified special examinations
2.5
6.1
45
212
R1210
NOMESCO Finland
Medical assessment of need and possibilities to rehabilitation
10.6
6.1
11
11
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
14
8.33
5.44
1.0
1.0
—
—
—
0
0
98
687
2.06
4.80
13.9
13.2
1.22
1.23
mmol/l
0.73
93
638
26
107
2.70
4.58
2.7
1.9
13.01
17.58
iu/l
0.42
18
83
21
80
2.86
4.26
2.8
2.0
8.30
7.61
u/l
0.05
11
55
45
255
2.05
3.82
2.6
2.3
160.24
454.38
u/l
1.05
45
250
102
770
1.86
3.57
9.5
8.7
6.01
6.02
mmol/l
0.02
96
713
6
9
6.87
2.89
3.2
2.2
16.25
26.66
umol/l
—
6
9
19
86
2.37
2.76
2.1
1.4
531.68
336.10
mu/l
0.86
19
78
115
946
1.72
2.57
9.9
12.5
3.49
3.67
e9/l
0.35
99
789
6
12
5.14
2.42
3.2
2.1
612.67
948.92
u/ml
—
6
12
7
17
4.25
2.38
1.7
1.1
—
—
—
0
0
51
347
1.68
2.33
4.0
8.1
1.04
1.18
inr
—
8
95
147
1320
2.10
2.24
12.7
12.1
54.52
58.64
umol/l
1.41
147
1320
0
56
0.00
2.11
0.0
1.1
—
—
—
0
0
46
318
1.62
1.95
5.9
11.1
1.31
1.36
mmol/l
0.54
46
300
17
86
2.09
1.93
4.4
2.5
876.52
6066.16
u/l
—
6
29
7
22
3.28
1.90
1.6
1.4
—
—
—
0
0
6
17
3.62
1.85
5.8
3.2
20.27
19.06
ug/l
—
6
17
55
405
1.54
1.77
4.8
5.1
43.18
39.29
u/l
0.09
55
389
14
69
2.13
1.70
1.9
1.7
—
—
—
0
0
34
228
1.62
1.61
3.0
7.3
30.04
31.53
s
0.83
34
228
5
125
0.38
1.58
1.4
1.6
—
—
—
0
0
16
89
1.88
1.43
22.9
18.6
0.33
0.69
mmol/l
—
9
74
48
359
1.48
1.40
13.3
16.4
24.43
24.58
mmol/l
0.15
48
359
17
277
0.57
1.39
2.3
2.4
—
—
—
0
0
10
47
2.20
1.36
3.1
6.2
61.20
53.43
%
—
10
47
43
317
1.48
1.34
4.1
10.5
0.68
0.99
mmol/l
0.34
30
236
9
44
2.11
1.29
1.7
4.6
17.22
10.36
%
—
9
44
6
25
2.45
1.25
1.0
1.1
—
—
—
0
0
20
125
1.68
1.24
1.0
1.3
116.00
130.04
iu/ml
—
5
49
16
255
0.59
1.21
2.2
2.2
—
—
—
0
0
6
26
2.36
1.20
1.2
1.6
0.32
0.25
nmol/l
—
6
20
25
169
1.57
1.16
3.1
4.4
0.21
0.20
g/l
0.54
25
162
27
186
1.54
1.15
3.3
3.9
454.44
800.49
ng/l
0.63
18
128
36
264
1.47
1.15
2.3
4.6
1.76
1.17
mg/l
0.40
28
201
7
30
2.39
1.14
1.0
1.1
—
—
—
0
0
7
30
2.39
1.14
4.9
6.5
2.00
2.43
ug/l
—
7
30
8
41
2.00
1.10
6.3
3.1
20.64
33.42
u/ml
—
8
41
5
21
2.42
1.10
1.0
1.0
—
—
—
0
0
62
507
1.36
1.07
3.3
4.4
—
—
—
0
0
9
45
2.06
1.07
1.9
4.5
—
—
—
0
0
5
22
2.31
1.04
3.6
1.7
110.60
143.86
ng/l
—
5
22
123
1324
0.72
1.01
3.9
4.1
—
—
—
0
0
5
23
2.21
0.98
4.6
4.2
54.40
53.96
%
—
5
23
27
193
1.48
0.98
2.4
2.1
—
—
—
0
0
22
151
1.53
0.97
1.8
2.0
—
—
—
0
0
54
440
1.34
0.94
3.1
4.3
0.33
0.33
e6/l
0.00
43
333
65
545
1.32
0.93
2.8
3.4
—
—
—
0
0
11
63
1.80
0.92
1.6
1.4
—
—
—
0
0
11
63
1.80
0.92
1.6
1.4
—
—
—
0
0
22
153
1.51
0.91
2.2
2.1
—
—
—
0
0
36
279
1.37
0.86
2.9
4.1
2.90
1.60
e6/l
0.39
22
167
27
201
1.41
0.81
1.8
3.3
12.72
14.05
umol/l
0.57
27
194
37
292
1.34
0.79
3.9
10.2
22.81
23.32
mmol/l
0.65
37
292
6
34
1.79
0.77
2.3
4.9
94.67
95.47
%
—
6
34
9
54
1.70
0.76
1.7
1.6
—
—
—
0
0
5
24
2.12
0.75
1.0
1.1
—
—
—
0
0
29
222
1.37
0.75
5.6
12.3
0.79
0.80
mmol/l
0.39
29
215
15
101
1.53
0.73
3.4
7.3
144.47
164.76
%
0.79
15
101
9
58
1.58
0.71
2.9
17.4
1.22
1.43
%
—
9
58
102
930
1.26
0.69
2.8
3.0
5.58
5.54
mmol/l
0.06
96
863
7
42
1.70
0.69
1.7
4.3
19.29
24.76
%
—
7
42
5
27
1.88
0.69
1.0
1.1
—
—
—
0
0
30
235
1.34
0.68
2.6
2.9
20.35
42.78
ng/l
0.54
17
109
24
182
1.37
0.66
1.8
3.4
2.42
2.59
g/l
1.17
24
177
6
105
0.56
0.64
1.3
1.1
—
—
—
0
0
8
50
1.63
0.62
1.3
1.3
—
—
—
0
0
0
20
0.00
0.61
0.0
4.4
—
—
—
0
0
0
21
0.00
0.60
0.0
1.6
—
—
—
0
0
18
132
1.41
0.60
4.2
10.4
95.94
86.88
%
0.64
18
132
0
22
0.00
0.60
0.0
1.1
—
—
—
0
0
86
941
0.82
0.59
4.1
3.3
1.40
1.46
mmol/l
0.78
81
890
5
88
0.55
0.58
1.2
1.2
—
—
—
0
0
34
279
1.28
0.56
3.6
3.9
1.22
0.53
e6/l
0.82
21
167
87
947
0.83
0.55
4.1
3.5
2.80
2.74
mmol/l
0.29
81
897
40
337
1.25
0.53
2.6
3.2
2.79
2.59
mg/l
0.25
35
300
9
63
1.45
0.53
1.7
5.7
1.24
1.23
mmol/l
—
9
56
16
118
1.39
0.52
1.0
1.4
491.20
518.35
pmol/l
—
10
106
10
67
1.52
0.51
1.5
1.5
—
—
—
0
0
10
143
0.68
0.50
1.7
1.5
—
—
—
0
0
7
45
1.58
0.49
1.6
1.3
—
—
—
0
0
39
332
1.23
0.48
16.7
11.9
0.58
1.05
mmol/l
0.44
31
238
28
230
1.26
0.46
1.4
1.5
—
—
—
0
0
6
92
0.64
0.43
1.7
1.6
—
—
—
0
0
90
834
1.18
0.43
11.5
9.1
98.33
96.70
ml/min/173m2
0.25
67
617
5
31
1.63
0.43
1.0
4.6
27.00
27.87
umol/l
—
5
31
5
31
1.63
0.43
2.6
2.0
—
—
—
0
0
8
59
1.37
0.41
42.5
25.1
0.94
1.06
%
—
8
59
0
15
0.00
0.41
0.0
1.1
—
230.70
—
0
15
0
16
0.00
0.41
0.0
1.7
—
—
—
0
0
84
903
0.86
0.41
3.3
3.2
1.28
1.19
mmol/l
0.64
79
853
20
160
1.28
0.41
1.3
1.5
217.33
136.67
u/ml
0.35
20
147
8
60
1.35
0.41
42.5
24.7
0.54
0.73
%
—
8
60
8
61
1.33
0.40
2.1
2.1
—
—
—
0
0
8
61
1.33
0.40
2.1
2.1
—
—
—
0
0
5
35
1.44
0.39
3.4
2.0
—
—
—
0
0
59
532
1.17
0.39
1.5
1.7
4.83
1.87
u/ml
0.30
15
90
37
321
1.20
0.38
3.0
3.2
—
—
—
0
0
67
612
1.16
0.38
3.2
3.5
0.00
0.00
estimate
-0.00
11
109
6
41
1.48
0.36
1.3
1.4
—
—
—
0
0
66
606
1.15
0.34
4.5
5.3
0.00
0.00
estimate
—
10
109
143
1390
1.22
0.33
16.2
13.3
22.42
23.05
mg/l
0.09
114
1009
12
153
0.77
0.32
1.0
1.1
—
—
—
0
0
66
609
1.14
0.32
3.3
3.6
0.00
0.00
estimate
—
10
106
52
567
0.88
0.29
1.6
1.9
—
—
—
0
0
23
197
1.19
0.27
3.4
6.6
5.96
7.55
umol/l
0.31
17
163
11
86
1.30
0.27
2.1
3.0
—
—
—
0
0
9
75
1.21
0.25
6.4
5.1
—
—
—
0
0
13
158
0.81
0.25
1.8
1.4
1.22
1.35
%
0.40
13
143
6
82
0.72
0.24
1.3
1.5
—
—
—
0
0
6
82
0.72
0.24
1.3
1.5
—
—
—
0
0
6
82
0.72
0.24
1.3
1.5
—
—
—
0
0
5
37
1.36
0.24
1.0
1.3
—
—
—
0
0
5
38
1.33
0.23
1.8
1.8
—
—
—
0
0
16
135
1.21
0.22
23.2
13.4
105.44
105.63
mmol/l
0.06
16
135
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
6.6
—
—
—
0
0
0
14
0.00
0.20
0.0
6.6
—
—
—
0
0
6
50
1.21
0.20
2.3
2.2
—
—
—
0
0
6
50
1.21
0.20
2.3
2.2
—
—
—
0
0
10
121
0.82
0.18
1.3
1.3
16.85
2.24
u/ml
—
10
99
44
409
1.10
0.18
3.6
3.2
—
—
—
0
0
7
86
0.81
0.15
2.4
1.8
—
—
—
0
0
32
297
1.10
0.13
3.7
3.5
0.00
0.00
estimate
-0.00
11
106
5
46
1.09
0.09
1.8
1.5
—
—
—
0
0
18
165
1.10
0.09
1.9
1.9
—
—
—
0
0
6
55
1.09
0.09
1.0
1.9
—
—
—
0
0
7
64
1.10
0.08
2.0
1.9
—
—
—
0
0
8
76
1.06
0.07
2.3
2.2
—
—
—
0
0
8
76
1.06
0.07
2.1
2.0
—
—
—
0
0
9
83
1.09
0.07
2.0
1.9
—
—
—
0
0
9
87
1.04
0.07
1.1
2.1
—
—
—
0
0
33
316
1.06
0.06
1.6
1.7
94.12
96.42
pmol/l
0.10
15
168
17
176
0.96
0.00
1.6
1.2
6.30
6.29
u/ml
—
6
62
10
99
1.01
0.00
1.2
1.4
—
—
—
0
0
13
133
0.98
0.00
1.8
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
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
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
10.8
—
—
—
0
0
5
53
0.94
-0.00
2.4
1.9
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
6.7
—
—
—
0
0
6
63
0.95
-0.00
2.2
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
3.9
—
20.56
—
0
9
7
73
0.96
-0.00
1.1
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
—
—
0
0
6
65
0.92
-0.00
3.5
3.9
29.83
31.02
%
—
6
44
5
51
0.98
-0.00
1.2
2.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
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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