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Down's syndrome

EFO Endpoint Browser PheWeb

Q17_DOWNS_SYNDR

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 — Q90
  • Cause of death: ICD-10 — Q90

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

133

4. Check minimum number of events

None

133

5. Include endpoints

None

133

6. Filter based on genotype QC (FinnGen only)

133

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
Syndroma Down

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 4904 2480 2418
Only index persons 3840 1967 1873
Unadjusted period prevalence (%)
Whole population 0.07 0.07 0.07
Only index persons 0.07 0.07 0.07
Median age at first event (years)
Whole population 24.93 28.56 21.16
Only index persons 28.20 30.99 25.27

-FinnGen-

Key figures

All Female Male
Number of individuals 133 79 54
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 27.86 33.20 20.06

-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
124
Matched controls
1239
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
109.0
88
*
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
+∞
84.2
71
*
Q90
ICD-10 Finland
Down syndrome
+∞
30.5
28
*
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
25.9
24
*
P85
ICPC
Mental retardation
85.3
25.0
27
*
75930
ICD-8 Finland
Congenital syndromes affecting multiple systems, Down's disease
+∞
14.9
14
*
H03AA01
ATC
levothyroxine sodium; systemic
5.5
14.3
49
131
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
8.6
13.5
30
44
Q90.1
ICD-10 Finland
Trisomy 21, mosaicism (mitotic nondisjunction)
+∞
12.7
12
*
Q21.21
ICD-10 Finland
Atrioventricular duct
+∞
12.7
12
*
N06DX01
ATC
memantine; oral
144.0
12.7
13
*
201
Kela drug reimbursment
Chronic cardiac insufficiency
24.3
12.4
17
8
H65.3
ICD-10 Finland
Chronic mucoid otitis media
8.4
11.6
26
38
N06DA02
ATC
donepezil; oral
48.0
11.2
13
*
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
5.9
11.1
33
72
Q90.2
ICD-10 Finland
Trisomy 21, translocation
+∞
9.5
9
*
H61.2
ICD-10 Finland
Impacted cerumen
9.8
9.2
18
21
UDC00
NOMESCO Finland
Ear microscopy
7.7
9.1
21
32
O35.1
ICD-10 Finland
Maternal care for (suspected) chromosomal abnormality in fetus
14.0
9.1
15
12
Q21.10
ICD-10 Finland
Persistent ostium secundum
12.9
8.8
15
13
H72.0
ICD-10 Finland
Central perforation of tympanic membrane
29.9
8.6
11
*
E03.80
ICD-10 Finland
Hypothyroidism caused by autoimmune thyroiditis
14.2
8.6
14
11
Q25.0
ICD-10 Finland
Patent ductus arteriosus
23.9
8.2
11
5
MAA00
NOMESCO Finland
Amniocentesis
13.0
7.8
13
11
D01BA02
ATC
terbinafine; oral; topical
3.7
7.7
36
122
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.8
7.6
35
117
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
6.6
7.6
19
33
104
Kela drug reimbursment
Thyroid insufficiency
8.2
7.5
16
22
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.7
7.4
21
43
R55
ICD-10 Finland
Syncope and collapse
6.6
7.2
18
31
L28
ICPC
Limited function/disability (L)
5.2
6.9
21
47
DFF20
NOMESCO Finland
Audiometry for children
10.9
6.7
12
12
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
6.0
6.4
17
32
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
4.4
6.4
23
61
ZXA10
NOMESCO Finland
Bilateral
3.6
6.3
29
96
F71
ICD-10 Finland
Moderate mental retardation
+∞
6.3
6
*
7456C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]
+∞
6.3
6
*
113
Kela drug reimbursment
Anxiety disorders associated with mental retardation
+∞
6.3
6
*
Z31.5
ICD-10 Finland
Genetic counselling
4.6
6.2
21
53
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
10.8
6.2
11
11
E000006
ATC
NA
7.0
6.1
14
22

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
23
100
2.57
3.68
1.4
1.2
236.3
160.8
iu/ml
0.28
14
43
19
77
2.71
3.48
2.9
3.5
4.9
5.0
pmol/l
0.06
19
68
101
826
1.93
2.66
6.7
3.7
14.6
14.5
pmol/l
0.33
92
774
26
138
2.10
2.64
2.5
1.6
—
—
—
0
0
27
149
2.02
2.48
3.4
3.8
302.4
424.9
ng/l
0.18
22
91
41
266
1.78
2.31
2.0
1.8
89.8
94.8
pmol/l
0.24
13
145
27
153
1.96
2.30
7.7
10.7
5.4
5.0
kpa
2.55
27
146
27
153
1.96
2.30
7.7
10.6
—
7.4
—
0
5
35
219
1.81
2.21
3.6
4.3
—
—
—
0
0
39
255
1.75
2.12
11.5
6.5
1.3
1.1
inr
—
6
78
5
10
5.15
2.09
1.2
1.1
—
—
—
0
0
25
143
1.92
2.07
1.6
1.3
—
—
—
0
0
22
121
1.98
2.03
1.2
1.5
—
—
—
0
0
48
339
1.65
1.96
2.1
1.6
14.2
2.2
u/ml
—
10
73
0
50
0.00
1.93
0.0
1.5
—
—
—
0
0
22
358
0.54
1.90
1.5
1.8
—
—
—
0
0
24
379
0.55
1.87
2.1
2.1
—
—
—
0
0
23
133
1.88
1.85
6.6
10.5
—
—
—
0
0
6
149
0.37
1.77
1.3
1.3
—
—
—
0
0
5
13
3.95
1.73
5.8
6.2
—
—
—
0
0
12
56
2.26
1.67
3.8
7.8
0.0
0.1
%
—
5
17
7
26
2.78
1.60
1.1
1.0
—
—
—
0
0
13
65
2.11
1.54
3.7
6.9
0.7
0.7
%
—
6
21
26
166
1.70
1.52
3.7
3.2
89.5
434.8
mg/l
0.42
17
114
77
899
0.66
1.52
3.0
3.2
1.1
1.2
mmol/l
0.94
70
848
22
336
0.59
1.47
1.9
1.6
—
—
—
0
0
9
41
2.28
1.40
14.9
17.5
—
—
—
0
0
26
172
1.64
1.34
4.2
3.8
13.9
8.2
mg/mmol
0.26
16
113
8
36
2.30
1.26
2.0
2.3
—
—
—
0
0
19
120
1.68
1.16
3.4
2.4
346.4
351.5
nmol/l
0.04
19
109
5
20
2.56
1.16
4.0
2.9
—
—
—
0
0
7
32
2.25
1.10
2.3
1.8
—
—
—
0
0
106
961
1.51
1.09
7.7
4.2
2.7
1.9
mu/l
4.44
100
902
22
311
0.65
1.04
2.1
2.0
—
—
—
0
0
9
48
1.94
1.03
1.1
1.2
—
—
—
0
0
7
35
2.05
1.01
2.0
2.3
—
—
—
0
0
11
178
0.58
0.91
2.4
1.6
—
—
—
0
0
53
437
1.35
0.90
4.3
8.7
—
—
—
0
0
73
638
1.32
0.82
4.8
8.3
0.1
0.2
e9/l
7.72
63
551
20
141
1.49
0.80
4.6
11.6
4.6
5.2
kpa
0.85
20
141
70
610
1.31
0.79
5.3
7.9
32.1
33.4
%
0.39
65
589
0
26
0.00
0.79
0.0
1.2
—
—
—
0
0
123
1271
0.57
0.78
20.6
18.1
137.2
135.5
g/l
0.69
123
1258
71
622
1.30
0.76
4.6
7.5
0.1
0.0
e9/l
3.47
61
529
71
622
1.30
0.76
4.7
7.5
0.5
0.6
e9/l
0.39
59
529
106
1125
0.72
0.75
15.0
14.9
39.3
40.2
%
0.48
81
972
9
57
1.62
0.73
12.0
26.3
—
—
—
0
0
7
118
0.57
0.72
2.3
2.3
9.8
9.1
g/l
—
7
113
85
926
0.77
0.68
3.4
3.5
1.5
1.5
mmol/l
0.07
77
873
72
639
1.28
0.67
4.6
7.7
1.9
2.2
e9/l
2.10
62
558
65
573
1.26
0.63
5.2
8.1
1.0
0.6
%
3.50
60
547
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
0
22
0.00
0.60
0.0
13.3
—
1535.0
—
0
22
6
37
1.65
0.56
1.2
1.6
—
—
—
0
0
20
257
0.74
0.56
2.1
1.7
—
—
—
0
0
77
699
1.24
0.56
5.2
11.7
3.7
3.8
e9/l
0.15
64
595
9
63
1.46
0.53
3.7
18.1
1.1
1.1
mg/l
—
9
63
20
154
1.35
0.52
1.2
1.5
—
452.4
—
0
29
7
108
0.63
0.51
2.3
1.6
—
—
—
0
0
98
1034
0.80
0.47
15.1
15.2
13.8
13.4
%
2.67
98
1021
7
50
1.42
0.46
1.6
2.2
—
—
—
0
0
45
394
1.21
0.44
4.6
3.2
—
—
—
0
0
5
32
1.58
0.42
1.0
3.2
—
—
—
0
0
88
934
0.83
0.42
4.1
3.7
2.9
2.9
mmol/l
0.13
81
877
8
60
1.35
0.41
21.3
18.7
96.5
93.3
%
—
8
60
0
17
0.00
0.41
0.0
1.6
—
—
—
0
0
5
79
0.62
0.36
2.4
2.9
—
—
—
0
0
6
47
1.29
0.32
1.0
1.1
—
—
—
0
0
89
935
0.85
0.32
3.3
3.5
4.7
4.7
mmol/l
0.33
82
888
7
100
0.68
0.32
1.3
1.2
—
—
—
0
0
17
139
1.26
0.31
1.8
2.2
—
—
—
0
0
7
57
1.24
0.29
1.4
1.2
—
—
—
0
0
7
57
1.24
0.29
4.6
4.9
—
—
—
0
0
54
498
1.14
0.27
5.7
4.7
0.0
0.0
estimate
—
5
85
21
179
1.21
0.27
2.8
2.7
16.3
4.4
e6/l
0.75
21
157
5
72
0.68
0.27
1.0
1.0
16.9
8.7
mu/l
—
5
67
13
105
1.26
0.26
10.8
19.8
1.2
1.3
mmol/l
0.08
13
99
16
133
1.23
0.25
3.7
2.5
15.9
13.7
umol/l
0.60
16
125
21
181
1.19
0.24
1.2
1.2
12.0
27.7
iu/ml
—
7
55
72
681
1.12
0.24
4.3
3.9
—
—
—
0
0
24
210
1.17
0.24
3.3
3.3
18977.9
4256.9
umol/l
0.35
24
194
21
241
0.85
0.23
1.4
1.8
—
—
—
0
0
32
288
1.15
0.22
2.9
2.7
—
—
—
0
0
37
337
1.14
0.22
2.1
1.5
1.9
2.0
g/l
0.12
16
195
5
41
1.23
0.22
1.8
1.7
—
—
—
0
0
54
504
1.12
0.22
4.5
3.3
0.0
0.0
estimate
—
5
77
5
42
1.20
0.21
1.6
1.4
0.2
0.2
g/l
—
5
42
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
38.7
—
166.8
—
0
10
0
10
0.00
0.21
0.0
10.1
—
0.7
—
0
10
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
2.0
—
1.7
—
0
10
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
17
146
1.19
0.20
9.2
12.4
—
—
—
0
0
35
320
1.13
0.20
3.3
7.6
—
—
—
0
0
25
225
1.14
0.17
3.5
2.5
—
—
—
0
0
25
276
0.88
0.17
2.8
3.3
—
—
—
0
0
14
120
1.19
0.17
3.4
2.5
2.5
2.5
g/l
0.19
14
111
17
192
0.87
0.16
2.3
1.7
—
—
—
0
0
85
822
1.09
0.15
5.4
3.9
40.2
37.9
mmol/mol
0.82
78
784
57
542
1.09
0.15
5.0
10.0
0.2
0.0
e9/l
0.50
41
415
27
252
1.09
0.10
5.0
3.5
—
—
—
0
0
36
342
1.07
0.09
2.8
4.2
14.5
51.8
e6/l
1.24
26
218
87
888
0.94
0.08
3.5
3.3
6.1
5.7
mmol/l
0.80
80
830
28
264
1.08
0.08
3.4
2.6
—
—
—
0
0
7
64
1.10
0.08
11.0
3.2
—
—
—
0
0
59
572
1.06
0.08
3.8
2.7
—
—
—
0
0
11
122
0.89
0.07
1.7
1.9
—
—
—
0
0
111
1122
0.94
0.05
14.7
11.6
24.8
20.7
mg/l
0.60
94
828
17
159
1.08
0.05
8.3
17.6
25.9
24.3
mmol/l
1.80
17
159
19
179
1.07
0.05
3.1
3.0
—
—
—
0
0
114
1150
0.94
0.04
13.1
9.3
—
—
—
0
0
27
260
1.05
0.03
4.6
4.3
—
—
—
0
0
26
270
0.95
0.03
2.8
3.4
0.2
0.2
e6/l
0.28
21
189
10
92
1.09
0.03
1.2
1.4
—
—
—
0
0
11
102
1.09
0.03
2.8
4.1
0.2
0.2
g/l
0.11
11
94
26
252
1.04
0.02
6.1
3.3
0.0
0.0
estimate
—
5
81
10
104
0.96
0.00
1.2
1.2
—
—
—
0
0
18
179
1.01
0.00
1.3
1.2
5.5
8.2
u/ml
—
6
70
25
247
1.01
0.00
3.1
2.7
24.3
17.0
ng/l
0.47
19
120
29
293
0.99
0.00
2.7
3.4
47.9
34.2
e6/l
0.19
24
212
0
9
0.00
0.00
0.0
2.0
—
6.9
—
0
9
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
0.00
0.0
3.9
—
33.1
—
0
9
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
1.0
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
2.7
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
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
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
7.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
7.4
—
0
5
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
16.8
—
7.0
—
0
6
5
50
1.00
0.00
5.8
3.4
67.1
66.3
g/l
—
5
50
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
26.6
—
0.7
—
0
8

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_DOWNS_SYNDR and mortality.

Females

Parameter HR [95% CI] p-value
Q17_DOWNS_SYNDR 22.482 [18.61, 27.16] < 0.001
Birth year 0.996 [0.99, 1.0] 0.401

During the follow-up period (1.1.1998 — 31.12.2019), 431 out of 2003 females with Q17_DOWNS_SYNDR died.

Males

Parameter HR [95% CI] p-value
Q17_DOWNS_SYNDR 13.673 [11.73, 15.94] < 0.001
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 435 out of 1936 males with Q17_DOWNS_SYNDR died.

Mortality risk

Mortality risk for people of age

years, who have Q17_DOWNS_SYNDR.

N-year risk Females Males
1 2.285% 2.585%
5 13.214% 14.193%
10 29.186% 33.047%
15 48.666% 52.566%
20 69.195% 72.468%

Relationships between endpoints

↥

Index endpoint: Q17_DOWNS_SYNDR – Down's syndrome

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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