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Monosomies and deletions from the autosomes, not elsewhere classified

Endpoint Browser PheWeb

Q17_MONOSOMI_DELET_AUTOSOMES_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 rule

None

519972

2. Check conditions

None

519972

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

Registry filters:

  • Hospital discharge: ICD-10 — Q93
  • Cause of death: ICD-10 — Q93

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

103

4. Check minimum number of events

None

103

5. Include endpoints

None

103

6. Filter based on genotype QC (FinnGen only)

95

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
Monosomiae et deletiones de autosomatibus 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 1687 846 840
Only index persons 1046 551 495
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 6.16 6.24 6.05
Only index persons 10.23 10.95 9.42

-FinnGen-

Key figures

All Female Male
Number of individuals 95 51 44
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 12.55 14.03 10.85

-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
103
Matched controls
1030
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Z31.5
ICD-10 Finland
Genetic counselling
22.0
56.7
56
53
Q93.8
ICD-10 Finland
Other deletions from the autosomes
+∞
51.4
45
*
Q93.5
ICD-10 Finland
Other deletions of part of a chromosome
+∞
51.4
45
*
F83
ICD-10 Finland
Mixed specific developmental disorders
10.8
23.0
29
36
R62.0
ICD-10 Finland
Delayed milestone
6.5
13.5
26
51
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
23.9
13.0
18
9
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
5.0
12.5
35
96
P85
ICPC
Mental retardation
25.1
12.5
17
8
L28
ICPC
Limited function/disability (L)
6.7
11.7
21
38
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.4
11.4
39
125
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
24.7
11.0
15
7
XA800
NOMESCO Finland
Neuropsychological investigation
5.3
10.9
26
62
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.4
10.8
25
58
Q99.8
ICD-10 Finland
Other specified chromosome abnormalities
+∞
10.6
10
*
WX408
NOMESCO Finland
General anesthesy, balanced
3.9
10.6
48
187
XF400
NOMESCO Finland
ECG with 12 standard connections
4.3
10.5
37
120
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.2
10.3
25
60
F79.9
ICD-10 Finland
Unspecified mental retardation, without mention of impairment of behaviour
22.8
10.1
14
7
Z2445
NOMESCO Finland
Psychologist
4.4
9.3
29
85
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.8
9.3
39
142
C03CA01
ATC
furosemide; systemic
5.7
9.3
19
39
Z3229
NOMESCO Finland
Other healthcare associate professional
4.7
9.0
24
62
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
4.3
8.7
27
79
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.4
8.6
49
216
Q93.0
ICD-10 Finland
Whole chromosome monosomy, meiotic nondisjunction
+∞
8.4
8
*
UDC00
NOMESCO Finland
Ear microscopy
5.4
8.2
18
39
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
9.2
8.0
16
20
ZXE10
NOMESCO Finland
More than one and less than three hours
3.2
7.6
46
207
R4110
NOMESCO Finland
Physiotherapy
3.1
7.2
44
199
ZXE20
NOMESCO Finland
More than three and less than five hours
4.1
6.7
21
61
ZXE00
NOMESCO Finland
One hour or less
2.9
6.6
59
324
N05BA01
ATC
diazepam; systemic, rectal
4.4
6.6
18
47
FM2CE, ,
NOMESCO Finland
4.4
6.6
18
47
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
4.1
6.5
20
57
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
12.1
6.5
11
10
TPH04
NOMESCO Finland
Cathetrisation of vein
3.4
6.4
28
102
F79.1
ICD-10 Finland
Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment
28.6
6.3
8
*
ZXD10
NOMESCO Finland
Scheduled procedure
2.8
6.1
49
253
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.3
6.0
28
106

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
40
200
2.63
5.11
13.6
6.2
1.10
1.22
inr
0.39
12
50
34
177
2.37
3.84
3.7
2.9
—
—
—
0
0
17
62
3.09
3.81
2.7
2.7
8.39
5.11
u/l
0.42
11
39
12
32
4.10
3.52
1.2
2.9
—
—
—
0
0
20
84
2.71
3.49
4.4
3.1
—
—
—
0
0
7
10
7.41
3.42
3.6
14.6
6.46
5.80
mmol/l
—
7
10
58
393
2.09
3.31
15.0
16.0
1.22
1.23
mmol/l
0.35
49
373
56
376
2.07
3.26
16.7
16.4
1.22
1.23
mmol/l
0.91
51
363
12
36
3.63
3.14
6.1
3.2
205.25
147.25
ng/l
0.26
12
36
16
63
2.82
3.13
2.9
2.6
16.86
10.50
iu/l
0.30
11
40
7
12
6.17
3.07
3.6
14.5
1.46
1.13
mmol/l
—
7
12
65
469
2.05
3.02
8.3
12.4
—
—
—
0
0
30
163
2.19
2.99
6.6
3.9
—
—
—
0
0
6
10
6.29
2.73
4.7
2.0
12.10
10.91
umol/l
—
6
10
6
10
6.29
2.73
5.7
3.2
—
—
—
0
0
6
10
6.29
2.73
1.7
14.7
—
—
—
0
0
95
833
2.81
2.53
18.9
12.1
28.35
24.47
mg/l
0.53
70
591
19
91
2.33
2.52
8.3
17.3
104.84
105.88
mmol/l
0.32
19
91
9
27
3.55
2.46
3.8
4.0
1.42
1.57
umol/l
—
9
27
5
8
6.50
2.40
1.0
1.5
5.96
8.46
mg/l
—
5
8
95
835
2.77
2.37
17.2
8.5
—
—
—
0
0
20
101
2.22
2.35
4.7
3.3
796.87
1071.62
ng/l
0.25
15
66
36
228
1.89
2.31
3.0
3.5
—
—
—
0
0
41
273
1.83
2.24
4.9
5.6
39.01
22.69
e6/l
0.29
34
209
39
256
1.84
2.23
4.9
5.5
0.24
0.26
e6/l
0.07
33
193
26
151
1.97
2.13
3.0
5.6
1.35
2.40
mg/l
0.37
21
117
7
20
3.68
2.09
1.4
1.3
—
—
—
0
0
6
15
4.18
2.07
1.5
9.4
—
—
—
0
0
6
15
4.18
2.07
1.3
3.2
—
—
—
0
0
6
15
4.18
2.07
1.3
3.2
—
—
—
0
0
33
210
1.84
2.06
3.8
3.8
2.72
2.70
mg/l
0.02
27
183
9
32
2.98
2.05
4.4
4.8
36.19
36.96
%
—
9
32
7
21
3.50
2.00
3.7
6.3
4.07
2.68
ug/l
—
7
21
83
698
1.97
1.99
5.6
3.8
2.13
1.96
mu/l
0.45
77
654
44
312
1.72
1.88
6.0
6.9
89.05
34.09
e6/l
0.79
35
215
5
12
4.32
1.84
1.0
1.1
—
—
—
0
0
32
209
1.77
1.81
6.4
13.6
1.40
0.78
mmol/l
0.56
24
164
10
42
2.53
1.67
3.3
23.1
0.84
0.61
%
—
10
42
28
180
1.76
1.66
4.9
5.4
1.98
1.93
e6/l
0.02
19
112
63
507
1.62
1.56
8.9
11.3
0.04
0.04
e9/l
0.07
55
420
0
42
0.00
1.56
0.0
1.9
—
—
—
0
0
0
42
0.00
1.56
0.0
1.1
—
4.20
—
0
23
0
44
0.00
1.55
0.0
1.1
—
8.15
—
0
28
63
509
1.61
1.52
8.9
11.2
0.61
0.58
e9/l
0.36
55
422
21
127
1.82
1.51
2.2
2.0
14.92
20.29
ng/l
0.24
13
51
25
160
1.74
1.50
2.6
1.6
87.38
94.26
pmol/l
0.47
14
90
25
160
1.74
1.50
9.2
3.8
7.39
7.42
ph
—
7
14
13
67
2.08
1.46
1.7
1.4
—
—
—
0
0
10
46
2.30
1.45
1.5
1.2
—
—
—
0
0
72
605
1.63
1.44
5.6
3.3
14.53
14.39
pmol/l
0.21
66
560
19
113
1.84
1.44
2.3
1.6
—
—
—
0
0
64
525
1.58
1.40
9.0
11.2
2.09
2.41
e9/l
1.25
57
452
6
23
2.70
1.39
3.8
4.7
22.50
30.74
umol/l
—
6
23
63
520
1.54
1.31
9.2
12.1
0.18
0.22
e9/l
0.99
55
440
60
491
1.53
1.29
13.6
13.6
0.00
0.00
e9/l
-0.00
49
370
28
194
1.61
1.25
11.4
12.7
—
—
—
0
0
62
514
1.52
1.23
4.9
4.8
—
—
—
0
0
35
257
1.55
1.22
5.0
5.3
—
—
—
0
0
8
39
2.14
1.18
1.3
6.4
—
—
—
0
0
5
20
2.57
1.16
1.2
1.3
—
—
—
0
0
5
20
2.57
1.16
1.4
1.6
32.60
31.55
nmol/l
—
5
20
10
51
2.06
1.15
3.1
3.7
—
—
—
0
0
5
21
2.45
1.10
2.4
7.6
—
—
—
0
0
9
46
2.05
1.07
20.6
15.5
0.61
0.71
%
—
9
46
0
29
0.00
0.99
0.0
1.7
—
—
—
0
0
6
30
2.06
0.88
3.2
4.7
0.05
0.05
e6/l
—
6
30
6
30
2.06
0.88
7.0
2.2
—
—
—
0
0
8
44
1.89
0.88
22.6
14.5
—
—
—
0
0
8
44
1.89
0.88
23.0
16.1
94.13
95.02
%
—
8
44
63
546
1.40
0.86
11.4
14.3
3.45
3.72
e9/l
0.55
54
457
61
526
1.39
0.85
4.0
2.6
5.76
5.51
mmol/l
0.88
56
484
8
46
1.80
0.85
23.0
15.5
1.03
1.24
%
—
8
46
8
46
1.80
0.85
23.3
15.6
23.38
23.93
mmol/l
—
8
46
10
58
1.80
0.83
1.5
1.4
—
—
—
0
0
6
33
1.87
0.80
1.3
6.7
—
—
—
0
0
11
67
1.72
0.78
3.4
2.0
8.36
12.35
nmol/l
0.96
11
60
6
34
1.81
0.77
1.2
1.2
—
—
—
0
0
41
336
1.37
0.76
4.0
4.1
0.00
0.00
estimate
—
9
53
41
336
1.37
0.76
6.7
6.0
0.00
0.00
estimate
—
10
55
7
39
1.85
0.74
1.1
1.2
—
—
—
0
0
5
25
2.05
0.73
8.0
32.6
—
—
—
0
0
7
40
1.80
0.73
1.4
2.0
—
—
—
0
0
7
41
1.76
0.71
1.0
1.3
—
—
—
0
0
12
175
0.64
0.68
1.3
1.8
—
—
—
0
0
25
195
1.37
0.62
5.2
12.4
23.72
23.38
mmol/l
0.27
25
195
8
51
1.62
0.62
1.4
1.5
—
—
—
0
0
0
21
0.00
0.60
0.0
1.7
—
—
—
0
0
35
290
1.31
0.59
1.6
1.8
—
—
—
0
0
0
23
0.00
0.59
0.0
37.9
—
160.12
—
0
23
11
73
1.57
0.59
1.0
1.3
—
—
—
0
0
13
90
1.51
0.59
2.8
1.9
—
—
—
0
0
20
256
0.73
0.57
2.3
1.9
—
—
—
0
0
40
339
1.29
0.57
4.0
4.1
0.00
0.00
estimate
—
10
54
9
63
1.47
0.54
1.0
1.2
—
—
—
0
0
9
63
1.47
0.54
1.7
1.5
—
—
—
0
0
20
155
1.36
0.52
4.5
3.2
—
—
—
0
0
11
76
1.50
0.50
1.0
1.3
—
—
—
0
0
17
129
1.38
0.50
2.1
1.5
—
—
—
0
0
7
49
1.46
0.47
1.6
1.8
—
—
—
0
0
28
232
1.28
0.47
12.9
16.6
24.33
24.78
mmol/l
0.35
28
232
13
96
1.41
0.44
4.2
6.4
53.37
64.01
e9/l
—
7
67
8
56
1.46
0.44
2.0
3.2
0.85
1.63
ug/l
—
8
49
5
32
1.59
0.43
1.0
1.1
—
—
—
0
0
37
321
1.24
0.42
2.5
1.8
1.69
1.57
g/l
0.18
24
159
0
15
0.00
0.41
0.0
1.0
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
5
77
0.63
0.37
1.4
1.2
—
—
—
0
0
10
75
1.37
0.31
1.8
2.1
—
—
—
0
0
7
56
1.27
0.30
1.3
1.5
—
—
—
0
0
10
76
1.35
0.29
1.0
1.3
—
—
—
0
0
10
76
1.35
0.29
1.0
1.3
—
—
—
0
0
10
77
1.33
0.27
1.0
1.3
—
—
—
0
0
22
189
1.21
0.27
12.5
9.7
—
—
—
0
0
5
41
1.23
0.22
1.6
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
12
0.00
0.21
0.0
7.9
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
39.94
—
0
7
0
14
0.00
0.20
0.0
1.8
—
—
—
0
0
18
156
1.19
0.20
1.2
1.2
—
—
—
0
0
8
98
0.80
0.14
1.1
1.9
—
—
—
0
0
32
298
1.11
0.13
10.2
11.3
—
—
—
0
0
18
163
1.13
0.11
2.6
4.1
0.00
0.00
estimate
—
10
52
36
340
1.09
0.11
3.8
2.2
—
—
—
0
0
5
46
1.09
0.10
1.0
1.0
16.80
19.31
mmol/l
—
5
46
5
47
1.07
0.09
1.0
1.0
—
—
—
0
0
7
65
1.08
0.08
1.0
1.1
—
—
—
0
0
21
197
1.08
0.07
3.4
4.2
—
—
—
0
0
20
188
1.08
0.06
4.7
2.0
—
—
—
0
0
85
840
1.07
0.04
25.6
16.8
333.20
335.22
g/l
1.01
85
835
25
242
1.04
0.02
2.2
1.9
—
—
—
0
0
21
207
1.02
0.00
2.0
1.7
—
—
—
0
0
21
205
1.03
0.00
1.6
1.7
—
—
—
0
0
11
106
1.04
0.00
1.2
1.4
—
14.17
—
0
6
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.0
—
25.60
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
17.93
—
0
8
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
4.43
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
429.44
—
0
8
6
66
0.90
-0.00
1.0
1.0
6.53
8.74
mu/l
—
6
54
0
7
0.00
-0.00
0.0
1.1
—
3.96
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
153.20
—
0
5

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_MONOSOMI_DELET_AUTOSOMES_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_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED – Monosomies and deletions from the autosomes, not elsewhere classified

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
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