No definition available.
Monosomies and deletions from the autosomes, not elsewhere classified
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 |
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. |
110 |
4. Check minimum number of eventsNone |
110 |
5. Include endpointsNone |
110 |
6. Filter based on genotype QC (FinnGen only) |
97 |
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
Similar endpoints
↥List of similar endpoints to
Monosomies and deletions from the autosomes, 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 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 | 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 | 97 | 53 | 44 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 13.06 | 15.13 | 10.55 |
-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
- 105
- Matched controls
- 1050
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Z31.5
ICD-10 Finland
Genetic counselling
21.1
56.4
57
56
Q93.8
ICD-10 Finland
Other deletions from the autosomes
+∞
52.6
46
*
Q93.5
ICD-10 Finland
Other deletions of part of a chromosome
+∞
52.6
46
*
F83
ICD-10 Finland
Mixed specific developmental disorders
10.2
22.0
29
38
R62.0
ICD-10 Finland
Delayed milestone
6.8
14.6
27
51
P85
ICPC
Mental retardation
25.4
13.9
19
9
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.8
13.3
42
128
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
28.6
12.9
17
7
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.8
12.0
35
99
XA800
NOMESCO Finland
Neuropsychological investigation
5.4
11.9
28
66
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
17.8
11.8
18
12
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.5
11.8
27
62
Q99.8
ICD-10 Finland
Other specified chromosome abnormalities
+∞
11.7
11
*
L28
ICPC
Limited function/disability (L)
6.1
11.6
23
46
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.3
11.0
26
61
WX408
NOMESCO Finland
General anesthesy, balanced
4.0
11.0
49
189
XF400
NOMESCO Finland
ECG with 12 standard connections
4.2
10.4
37
121
F79.9
ICD-10 Finland
Unspecified mental retardation, without mention of impairment of behaviour
22.8
10.1
14
7
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.9
10.0
41
148
C03CA01
ATC
furosemide; systemic
5.8
9.8
20
41
Z3229
NOMESCO Finland
Other healthcare associate professional
4.9
9.7
25
63
A28
ICPC
Limited function/disability NOS
5.6
9.0
19
40
Z2445
NOMESCO Finland
Psychologist
4.2
8.9
29
88
Q93.0
ICD-10 Finland
Whole chromosome monosomy, meiotic nondisjunction
+∞
8.4
8
*
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
4.1
8.3
27
81
UDC00
NOMESCO Finland
Ear microscopy
5.4
8.2
18
39
ZXE10
NOMESCO Finland
More than one and less than three hours
3.3
8.1
47
208
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.1
7.6
51
243
F72.1
ICD-10 Finland
Severe mental retardation, significant impairment of behaviour requiring attention or treatment
85.9
7.5
8
*
F79.1
ICD-10 Finland
Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment
32.5
7.3
9
*
ZXE00
NOMESCO Finland
One hour or less
3.0
7.2
61
329
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
7.3
7.0
16
25
TPH04
NOMESCO Finland
Cathetrisation of vein
3.4
6.8
30
110
R4110
NOMESCO Finland
Physiotherapy
3.0
6.7
45
212
ZXE20
NOMESCO Finland
More than three and less than five hours
4.1
6.7
21
61
FM2CE, ,
NOMESCO Finland
4.4
6.6
18
47
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
4.0
6.4
20
58
ZXD10
NOMESCO Finland
Scheduled procedure
2.8
6.4
50
255
H47.2
ICD-10 Finland
Optic atrophy
+∞
6.3
6
*
N05BA01
ATC
diazepam; systemic, rectal
4.2
6.2
18
49
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
11.0
6.2
11
11
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.2
6.1
29
111
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
27
90
3.69
7.13
5.0
7.2
401.76
787.17
ng/l
1.11
21
84
63
431
2.15
3.56
17.8
17.1
1.22
1.23
mmol/l
0.52
57
410
12
32
4.10
3.52
1.4
3.0
10.17
3.61
index
—
6
18
60
405
2.12
3.49
21.1
18.5
1.22
1.23
mmol/l
1.02
55
393
23
110
2.40
3.07
17.7
21.7
105.00
105.82
mmol/l
0.31
23
110
9
229
0.34
3.05
2.6
2.4
—
—
—
0
0
12
37
3.53
3.05
6.6
3.3
205.33
143.68
ng/l
0.28
12
37
18
77
2.61
3.02
3.2
2.7
8.39
4.71
u/l
0.49
11
46
5
5
10.40
3.01
2.2
4.2
1.19
1.21
mmol/l
—
5
5
10
31
3.45
2.60
1.6
1.2
—
—
—
0
0
10
31
3.45
2.60
1.6
1.2
—
—
—
0
0
9
210
0.38
2.43
2.3
2.3
—
—
—
0
0
5
9
5.77
2.24
2.4
1.8
—
—
—
0
0
5
9
5.77
2.24
5.2
3.8
6.38
5.88
kpa
—
5
9
51
363
1.79
2.22
3.1
3.8
—
—
estimate
—
0
0
10
36
2.96
2.20
4.5
5.6
—
—
—
0
0
6
14
4.47
2.18
2.2
12.6
4.73
5.61
pmol/l
—
6
14
13
56
2.51
2.15
5.3
26.3
0.68
0.59
%
0.54
13
56
46
321
1.77
2.12
5.2
6.0
—
—
—
0
0
28
168
1.91
2.08
3.8
5.5
1.51
2.15
mg/l
0.23
23
132
6
15
4.17
2.07
1.5
3.4
11.00
16.87
index
—
6
15
6
15
4.17
2.07
1.3
3.2
0.67
0.87
index
—
6
15
42
289
1.76
2.01
5.4
5.8
0.22
0.27
e6/l
0.19
36
205
34
220
1.81
2.00
2.8
1.7
85.51
93.20
pmol/l
0.58
16
116
17
86
2.17
1.98
3.4
2.5
16.86
9.52
iu/l
0.37
11
55
7
22
3.33
1.91
3.7
6.1
4.07
2.59
ug/l
—
7
22
5
12
4.32
1.84
2.2
3.1
5.10
2.17
ug/l
—
5
12
89
770
2.02
1.83
6.5
4.4
2.14
1.94
mu/l
0.65
84
725
33
217
1.76
1.82
2.9
3.4
—
—
—
0
0
9
36
2.64
1.79
5.7
15.4
48.73
58.97
%
—
9
36
6
18
3.47
1.77
1.7
1.7
—
—
—
0
0
98
893
2.46
1.73
22.5
13.5
29.49
24.28
mg/l
0.86
74
663
18
99
1.99
1.70
3.5
2.0
—
—
—
0
0
33
221
1.72
1.70
8.0
15.8
1.92
0.76
mmol/l
1.10
27
181
5
14
3.69
1.63
1.6
1.0
79.00
86.07
%
—
5
14
21
125
1.85
1.58
5.8
3.2
748.56
961.31
ng/l
0.21
16
75
30
421
0.60
1.56
2.2
2.1
—
—
—
0
0
9
41
2.30
1.41
2.9
2.5
—
—
—
0
0
20
122
1.79
1.40
3.3
2.1
—
—
—
0
0
5
17
3.03
1.37
2.2
1.5
—
—
—
0
0
17
99
1.86
1.37
3.6
2.1
—
—
—
0
0
5
118
0.40
1.35
1.0
2.3
—
—
—
0
0
78
677
1.59
1.25
6.2
3.8
14.78
14.45
pmol/l
0.62
73
632
7
138
0.47
1.20
1.3
2.5
—
—
—
0
0
6
26
2.38
1.20
2.7
1.5
—
—
—
0
0
22
145
1.65
1.18
2.5
2.1
15.87
18.70
ng/l
0.13
15
59
6
123
0.46
1.14
1.7
1.7
865.10
869.10
mu/l
—
6
104
8
41
2.03
1.11
1.1
1.2
—
—
—
0
0
29
210
1.53
1.06
5.5
5.8
1.35
2.10
e6/l
0.43
19
117
69
597
1.45
1.00
13.0
15.3
3.61
3.75
e9/l
0.23
59
494
15
93
1.72
1.00
6.1
9.3
98.67
92.26
%
0.42
15
93
10
55
1.90
0.96
39.7
18.3
0.59
0.67
%
—
10
55
52
430
1.41
0.96
4.1
4.4
0.00
0.00
estimate
-0.00
13
64
9
52
1.80
0.95
5.1
2.4
—
—
—
0
0
6
28
2.21
0.93
1.8
1.8
42.00
34.96
nmol/l
—
6
28
29
217
1.46
0.90
5.5
5.0
1.52
0.60
e6/l
0.80
19
121
8
46
1.80
0.84
2.8
1.7
—
—
—
0
0
0
24
0.00
0.80
0.0
1.3
—
—
—
0
0
5
24
2.14
0.75
1.0
1.7
—
—
—
0
0
9
57
1.63
0.73
44.0
17.8
1.08
1.16
%
—
9
57
9
58
1.60
0.72
44.2
17.6
23.67
23.75
mmol/l
—
9
58
5
26
1.97
0.71
1.2
1.2
—
—
—
0
0
13
86
1.58
0.70
4.1
2.1
12.25
13.05
nmol/l
0.08
13
79
50
427
1.33
0.69
4.2
4.4
0.00
0.00
estimate
-0.00
14
68
50
431
1.31
0.64
4.3
4.4
0.00
0.00
estimate
-0.00
14
65
33
269
1.33
0.62
3.0
2.2
1.29
1.38
mmol/l
0.26
28
242
6
36
1.71
0.58
2.8
1.9
—
—
—
0
0
26
207
1.34
0.57
4.3
3.0
0.00
0.00
estimate
-0.00
11
52
6
40
1.53
0.52
2.0
1.4
—
—
—
0
0
9
65
1.42
0.52
2.8
3.3
0.82
1.52
ug/l
—
9
56
25
207
1.27
0.42
7.5
14.8
24.03
23.40
mmol/l
0.73
25
207
60
548
1.22
0.41
18.7
7.2
105.59
102.37
ml/min/173m2
0.40
51
441
83
870
0.78
0.40
4.1
3.9
—
—
—
0
0
8
112
0.69
0.39
1.0
1.1
—
—
—
0
0
9
122
0.71
0.38
1.4
1.5
—
—
—
0
0
6
41
1.49
0.37
6.3
13.1
—
617.25
—
0
8
6
45
1.35
0.34
2.8
2.0
—
—
—
0
0
28
241
1.22
0.34
23.0
20.3
24.54
24.80
mmol/l
0.19
28
241
6
46
1.32
0.33
2.8
2.2
—
—
—
0
0
5
39
1.30
0.23
1.8
1.7
—
—
—
0
0
22
193
1.18
0.22
2.7
4.1
0.00
0.00
estimate
-0.00
13
63
0
10
0.00
0.21
0.0
1.1
—
0.32
—
0
10
0
10
0.00
0.21
0.0
1.0
—
0.00
—
0
10
0
10
0.00
0.21
0.0
9.8
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
365.85
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
6.4
—
—
—
0
0
31
283
1.14
0.19
3.9
3.3
0.00
0.02
estimate
0.49
12
54
5
65
0.76
0.17
2.2
2.1
—
114.04
—
0
32
5
67
0.73
0.17
1.2
1.2
—
—
—
0
0
21
191
1.12
0.13
2.0
3.4
1.02
1.02
kg/l
0.18
14
120
5
47
1.07
0.09
1.0
1.0
16.80
19.28
mmol/l
—
5
47
6
53
1.14
0.09
1.8
1.6
—
—
—
0
0
6
58
1.04
0.08
1.5
1.2
—
—
—
0
0
5
62
0.80
0.08
2.2
1.7
—
—
—
0
0
6
72
0.82
0.08
1.3
1.1
—
7.24
—
0
5
37
381
0.96
0.04
1.8
2.0
0.52
4.19
u/ml
—
5
61
12
112
1.08
0.03
2.8
2.0
1.36
1.42
%
0.22
12
102
0
8
0.00
0.00
0.0
1.4
—
47.16
—
0
8
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
0.73
—
0
7
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
68.00
—
0
6
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED and mortality.
Females
No dataMales
No dataMortality 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
Loading data