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Trisomy 21 (Down syndrome) due to meiotic nondisjunction

Endpoint Browser PheWeb

Q17_TRISOMY_21_DUE_TO_MEIOTIC_NONDISJUNCTION

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Hospital discharge: ICD-10 — Q90.0
  • Cause of death: ICD-10 — Q90.0

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

81

4. Check minimum number of events

None

81

5. Include endpoints

None

81

6. Filter based on genotype QC (FinnGen only)

70

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 70 43 27
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 20.48 32.74 0.95

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
74
Matched controls
740
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
+∞
106.4
74
*
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
59.7
49
*
Q90
ICD-10 Finland
Down syndrome
+∞
23.1
21
*
P85
ICPC
Mental retardation
65.2
20.6
23
5
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
17.4
16
*
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
8.9
16.2
25
40
H03AA01
ATC
levothyroxine sodium; systemic
6.6
14.3
33
80
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
24.0
12.3
17
9
H65.3
ICD-10 Finland
Chronic mucoid otitis media
7.1
11.7
21
39
UDC00
NOMESCO Finland
Ear microscopy
10.4
10.6
21
27
Q21.21
ICD-10 Finland
Atrioventricular duct
63.6
9.9
11
*
Q90.1
ICD-10 Finland
Trisomy 21, mosaicism (mitotic nondisjunction)
+∞
9.6
9
*
Q21.10
ICD-10 Finland
Persistent ostium secundum
28.2
9.2
12
5
75930
ICD-8 Finland
Congenital syndromes affecting multiple systems, Down's disease
+∞
8.5
8
*
Q25.0
ICD-10 Finland
Patent ductus arteriosus
21.2
7.9
11
6
201
Kela drug reimbursment
Chronic cardiac insufficiency
15.6
7.7
12
9
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
4.8
7.4
20
53
J18.9
ICD-10 Finland
Pneumonia, unspecified
4.0
7.1
27
93
H61.2
ICD-10 Finland
Impacted cerumen
9.3
7.0
14
18
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
6.4
6.9
18
35
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
8.4
6.6
14
20
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.1
6.5
22
69
F71
ICD-10 Finland
Moderate mental retardation
+∞
6.3
6
*
H52.2
ICD-10 Finland
Astigmatism
8.5
6.2
13
18
H72.0
ICD-10 Finland
Central perforation of tympanic membrane
16.8
6.1
9
6

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
21
66
4.05
6.17
1.4
1.3
420.80
162.48
u/ml
—
10
30
9
198
0.38
2.31
1.3
1.8
—
—
—
0
0
24
135
2.15
2.27
3.3
4.9
—
—
—
0
0
9
190
0.40
2.00
1.7
2.1
—
—
—
0
0
12
53
2.51
1.92
3.2
3.5
5.13
4.97
pmol/l
0.11
12
48
6
17
3.74
1.88
1.2
1.1
—
—
—
0
0
27
171
1.91
1.80
8.4
9.2
1.22
1.12
inr
0.46
20
135
0
47
0.00
1.78
0.0
1.7
—
—
—
0
0
19
107
2.04
1.76
7.1
10.2
—
—
—
0
0
35
245
1.81
1.69
2.2
1.7
11.51
3.05
u/ml
—
7
47
10
43
2.53
1.67
4.9
8.4
1.20
0.41
%
—
5
17
18
103
1.99
1.59
1.5
1.3
—
—
—
0
0
18
103
1.99
1.59
2.6
1.8
—
—
—
0
0
0
44
0.00
1.57
0.0
1.7
—
—
—
0
0
7
27
2.75
1.55
2.3
1.6
18.71
24.19
ng/l
—
7
27
39
289
1.74
1.51
5.8
11.8
—
—
—
0
0
0
37
0.00
1.39
0.0
2.1
—
—
—
0
0
60
513
1.90
1.32
8.0
4.2
14.79
14.53
pmol/l
0.41
55
487
5
18
2.90
1.30
2.0
2.1
—
—
—
0
0
6
25
2.52
1.27
1.7
3.6
27.50
40.12
umol/l
—
6
25
5
114
0.40
1.25
1.4
1.7
—
—
—
0
0
9
159
0.51
1.16
1.7
1.7
—
—
—
0
0
5
21
2.48
1.11
2.8
2.0
—
—
—
0
0
5
21
2.48
1.11
2.8
2.0
—
—
—
0
0
5
21
2.48
1.11
2.8
2.0
—
—
—
0
0
5
21
2.48
1.11
2.8
2.0
—
—
—
0
0
27
197
1.58
1.03
1.7
1.9
94.39
94.17
pmol/l
—
9
109
48
407
1.51
0.88
6.8
9.7
0.55
0.58
e9/l
0.26
43
332
30
234
1.47
0.82
3.5
6.4
—
—
—
0
0
0
25
0.00
0.80
0.0
1.2
—
0.30
—
0
18
59
639
0.62
0.78
16.7
14.4
26.52
19.87
mg/l
1.00
52
492
7
116
0.56
0.76
1.4
1.4
—
—
—
0
0
30
242
1.40
0.66
2.0
1.6
2.19
1.78
g/l
0.60
14
138
5
29
1.78
0.65
6.4
7.8
25.74
23.34
mmol/l
—
5
29
5
30
1.71
0.62
1.0
1.2
—
—
—
0
0
0
20
0.00
0.61
0.0
1.2
—
—
—
0
0
19
244
0.70
0.60
3.6
5.3
9.45
33.23
e6/l
0.70
13
150
14
99
1.51
0.59
1.5
2.5
—
—
—
0
0
12
82
1.55
0.59
1.3
1.8
—
—
—
0
0
14
189
0.68
0.58
3.4
3.8
—
—
estimate
—
0
0
17
221
0.70
0.57
1.8
2.4
—
—
—
0
0
15
199
0.69
0.56
1.6
1.7
—
—
—
0
0
21
165
1.38
0.53
2.1
3.4
7.39
7.39
ph
0.29
12
108
30
351
0.76
0.51
3.4
3.5
131.01
69.56
ug/l
0.54
30
340
12
85
1.49
0.50
1.4
3.0
2.46
2.55
g/l
0.17
12
80
28
233
1.32
0.49
4.1
9.1
34.56
37.13
g/l
2.07
28
226
17
132
1.37
0.45
3.6
11.6
1.25
1.32
mmol/l
0.38
17
121
14
181
0.72
0.45
5.3
3.9
—
—
—
0
0
48
434
1.30
0.44
7.2
14.1
3.55
3.64
e9/l
0.09
43
356
24
285
0.77
0.44
5.0
3.4
6.23
6.20
ph
0.06
13
141
17
133
1.36
0.43
2.6
2.6
—
—
—
0
0
0
16
0.00
0.41
0.0
9.4
—
10.71
—
0
16
58
615
0.74
0.41
19.6
19.2
14.04
13.37
%
3.35
58
610
40
364
1.22
0.30
8.5
12.8
6.02
6.15
mmol/l
0.16
40
335
8
63
1.30
0.29
1.5
1.3
—
—
—
0
0
15
124
1.26
0.26
6.4
14.0
7.36
7.36
ph
—
10
68
5
40
1.27
0.23
2.2
2.9
0.16
0.09
e6/l
—
5
40
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
12.3
—
874.33
—
0
12
0
12
0.00
0.21
0.0
2.8
—
5.20
—
0
12
0
13
0.00
0.21
0.0
1.4
—
934.69
—
0
13
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
2.0
—
—
—
0
0
0
13
0.00
0.21
0.0
14.2
—
1633.54
—
0
13
15
173
0.83
0.19
2.5
3.2
1.95
2.51
mg/l
0.75
15
157
5
68
0.72
0.17
1.0
1.4
—
—
—
0
0
5
68
0.72
0.17
1.2
1.2
—
—
—
0
0
5
69
0.70
0.17
1.6
2.0
—
—
—
0
0
11
130
0.82
0.17
1.4
1.2
14.20
19.82
iu/ml
—
5
34
7
85
0.81
0.15
10.7
20.3
103.00
105.07
mmol/l
—
7
85
13
113
1.18
0.14
3.0
3.1
22.13
28.07
mg/l
—
7
83
63
642
0.87
0.08
16.2
9.7
—
—
—
0
0
6
74
0.79
0.08
1.7
1.3
—
—
—
0
0
34
354
0.93
0.07
7.1
12.9
0.40
0.00
e9/l
0.50
25
250
11
99
1.13
0.07
1.4
1.6
—
538.18
—
0
22
11
120
0.90
0.05
8.1
14.3
—
—
—
0
0
11
120
0.90
0.05
4.0
3.5
8.74
4.88
e6/l
0.41
11
107
15
140
1.09
0.05
8.8
19.7
25.76
24.15
mmol/l
1.50
15
140
20
190
1.07
0.04
2.9
3.0
2.32
2.37
mmol/l
1.00
20
176
27
261
1.05
0.03
3.2
3.7
—
—
estimate
—
0
0
12
112
1.09
0.03
3.8
3.6
3.53
3.98
mg/mmol
—
7
76
12
113
1.07
0.02
2.5
2.2
—
—
—
0
0
16
153
1.06
0.01
6.9
4.8
—
—
—
0
0
12
114
1.06
0.01
3.3
12.8
24.33
23.31
mmol/l
0.98
12
114
17
176
0.96
0.00
1.3
1.9
—
—
—
0
0
19
188
1.01
0.00
3.5
3.2
—
—
—
0
0
15
153
0.98
0.00
7.1
3.2
1.02
1.02
kg/l
—
9
98
12
115
1.05
0.00
3.2
9.2
0.86
0.81
mmol/l
1.44
12
107
0
5
0.00
-0.00
0.0
1.6
—
56.80
—
0
5
0
7
0.00
-0.00
0.0
2.4
—
14.71
—
0
7
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
0.83
—
0
6
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.4
—
0.67
—
0
5
0
8
0.00
-0.00
0.0
2.1
—
6.61
—
0
8
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.0
—
4.07
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
4.75
—
0
8
0
5
0.00
-0.00
0.0
1.2
—
95.60
—
0
5
0
7
0.00
-0.00
0.0
44.6
—
167.71
—
0
7
0
6
0.00
-0.00
0.0
2.2
—
0.91
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
3.77
—
0
7
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
23.25
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
33.38
—
0
6
0
6
0.00
-0.00
0.0
32.3
—
0.82
—
0
6
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
3.24
—
0
5
0
5
0.00
-0.00
0.0
2.4
—
66.80
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
32.33
—
0
6
0
5
0.00
-0.00
0.0
2.2
—
1.86
—
0
5

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_TRISOMY_21_DUE_TO_MEIOTIC_NONDISJUNCTION – Trisomy 21 (Down syndrome) due to meiotic nondisjunction

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).