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Down's syndrome

EFO Endpoint Browser PheWeb

Q17_DOWNS_SYNDR

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

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

135

4. Check minimum number of events

None

135

5. Include endpoints

None

135

6. Filter based on genotype QC (FinnGen only)

125

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 125 72 53
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 28.46 33.33 21.85

-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
135
Matched controls
1350
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
122.1
98
*
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
+∞
87.2
74
*
Q90
ICD-10 Finland
Down syndrome
+∞
33.8
31
*
P85
ICPC
Mental retardation
132.9
30.1
31
*
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
28.1
26
*
H03AA01
ATC
levothyroxine sodium; systemic
6.7
25.7
58
137
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
7.4
18.7
31
52
H65.3
ICD-10 Finland
Chronic mucoid otitis media
7.6
17.0
27
43
75930
ICD-8 Finland
Congenital syndromes affecting multiple systems, Down's disease
+∞
15.9
15
*
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
6.0
14.9
30
61
H61.2
ICD-10 Finland
Impacted cerumen
7.8
14.5
22
33
UDC00
NOMESCO Finland
Ear microscopy
6.7
13.7
24
42
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
5.0
13.3
34
85
Q90.1
ICD-10 Finland
Trisomy 21, mosaicism (mitotic nondisjunction)
+∞
12.7
12
*
D01BA02
ATC
terbinafine; oral
4.1
12.1
42
133
O35.1
ICD-10 Finland
Maternal care for (suspected) chromosomal abnormality in fetus
21.4
11.9
17
9
Q21.10
ICD-10 Finland
Persistent ostium secundum
25.7
11.9
16
7
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.8
11.0
43
147
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
23.9
11.0
15
7
Q21.21
ICD-10 Finland
Atrioventricular duct
65.3
10.8
12
*
N06DX01
ATC
memantine; oral
25.8
10.5
14
6
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
5.8
10.2
20
39
E03.80
ICD-10 Finland
Hypothyroidism caused by autoimmune thyroiditis
14.9
10.0
16
12
SPAT1033
SPAT
Irrigation or wax removal of outer auditory canal
4.8
9.6
24
58
201
Kela drug reimbursment
Chronic cardiac insufficiency
12.0
9.6
17
16
N06DA02
ATC
donepezil; oral
23.8
9.5
13
6
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.9
9.5
33
103
Q90.2
ICD-10 Finland
Trisomy 21, translocation
+∞
9.5
9
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
5.4
9.4
20
42
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
29.7
8.6
11
*
F71
ICD-10 Finland
Moderate mental retardation
+∞
8.4
8
*
R55
ICD-10 Finland
Syncope and collapse
4.6
7.9
20
49
MAA00
NOMESCO Finland
Amniocentesis
9.8
7.8
15
17
Q25.0
ICD-10 Finland
Patent ductus arteriosus
19.8
7.7
11
6
H81
ICPC
Excessive ear wax
4.3
7.6
21
55
N03AG01
ATC
valproic acid; systemic, rectal
4.3
7.4
21
56
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
7.4
7
*
Z3229
NOMESCO Finland
Other healthcare associate professional
4.3
7.3
20
52
T86
ICPC
Hypothyroidism/myxoedema
9.6
7.2
14
16
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
31.9
7.2
9
*
H72.0
ICD-10 Finland
Central perforation of tympanic membrane
13.0
7.2
12
10
DFF20
NOMESCO Finland
Audiometry for children
13.0
7.2
12
10
Z31.5
ICD-10 Finland
Genetic counselling
4.0
7.2
22
62
R56.8
ICD-10 Finland
Other and unspecified convulsions
4.4
7.2
19
48
K03.66
ICD-10 Finland
Tooth plaque
3.6
7.2
26
83
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
4.6
7.1
18
44
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.0
6.9
37
150
N05AX08
ATC
risperidone; systemic
4.2
6.9
20
54
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
4.0
6.9
21
59
N06DA03
ATC
rivastigmine; oral, transdermal
42.2
6.8
8
*
G30.0
ICD-10 Finland
Alzheimer disease with early onset
42.2
6.8
8
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.3
6.8
29
103
113
Kela drug reimbursment
Anxiety disorders associated with 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
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.5
6.3
24
79
2500B
ICD-9 Finland
Diabetes mellitus without mention of complication[DIABETES MELLITUS SINE COMPLICATIONE ,TYYPPI I]
9.3
6.2
12
14
3812A
ICD-9 Finland
Nonsuppurative otitis media and Eustachian tube disorders, Chronic mucoid otitis media
9.3
6.2
12
14
L28
ICPC
Limited function/disability (L)
3.6
6.2
22
69
4122
FHL
Tympanostomy (tympanic tube)
10.8
6.2
11
11
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
3.8
6.1
20
59
104
Kela drug reimbursment
Thyroid insufficiency
5.6
6.1
17
34

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
20
80
2.76
3.75
2.8
3.5
4.87
4.96
pmol/l
0.08
20
70
23
104
2.46
3.39
1.4
1.2
236.27
154.28
iu/ml
0.31
14
45
103
835
1.99
2.90
6.6
3.7
14.65
14.46
pmol/l
0.35
93
782
26
139
2.08
2.59
2.5
1.6
—
—
—
0
0
45
295
1.79
2.46
17.5
9.4
1.46
1.13
inr
—
7
84
27
151
1.99
2.38
3.4
3.8
302.36
420.36
ng/l
0.17
22
92
27
153
1.96
2.30
7.7
10.6
—
7.41
—
0
5
27
153
1.96
2.30
7.7
10.7
5.44
5.02
kpa
2.57
27
147
23
124
2.03
2.24
1.2
1.5
—
—
—
0
0
41
272
1.73
2.11
2.0
1.8
89.81
94.54
pmol/l
0.23
13
147
35
223
1.77
2.07
3.6
4.3
—
—
—
0
0
25
145
1.89
1.99
1.6
1.3
—
—
—
0
0
5
11
4.67
1.96
1.2
1.1
—
—
—
0
0
0
52
0.00
1.93
0.0
1.5
—
—
—
0
0
6
152
0.37
1.92
1.3
1.3
—
—
—
0
0
23
133
1.88
1.84
6.6
10.5
—
—
—
0
0
48
345
1.61
1.80
2.1
1.6
14.24
2.20
u/ml
—
10
74
23
364
0.56
1.79
1.5
1.8
—
—
—
0
0
27
167
1.77
1.75
3.6
3.2
89.54
427.94
mg/l
0.42
17
116
5
13
3.95
1.73
5.8
6.2
—
—
—
0
0
25
383
0.57
1.72
2.0
2.1
—
—
—
0
0
12
56
2.25
1.66
3.1
7.7
0.00
0.14
%
—
5
22
7
26
2.78
1.60
1.1
1.0
—
—
—
0
0
78
913
0.65
1.58
3.0
3.2
1.12
1.25
mmol/l
0.99
70
859
27
173
1.70
1.56
4.1
3.6
13.87
8.11
mg/mmol
0.27
16
114
12
58
2.17
1.54
3.7
7.6
0.00
0.08
%
—
5
24
13
67
2.04
1.44
3.7
6.8
0.67
0.64
%
—
6
33
12
61
2.06
1.37
3.2
6.8
0.90
0.78
%
—
5
27
9
42
2.22
1.36
14.9
17.2
—
—
—
0
0
23
338
0.61
1.30
1.8
1.6
—
—
—
0
0
8
36
2.30
1.26
2.0
2.3
—
—
—
0
0
108
973
1.55
1.21
7.6
4.2
2.71
1.86
mu/l
4.50
101
914
5
20
2.56
1.16
4.0
2.9
—
—
—
0
0
19
121
1.66
1.13
3.4
2.5
346.37
350.57
nmol/l
0.04
19
110
7
33
2.18
1.07
2.3
1.8
—
—
—
0
0
71
602
1.38
1.04
5.0
8.2
—
—
—
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
0
28
0.00
0.99
0.0
1.3
—
—
—
0
0
6
27
2.28
0.94
1.7
4.0
27.50
41.26
umol/l
—
6
27
11
179
0.58
0.93
2.4
1.6
—
—
—
0
0
6
28
2.19
0.93
5.5
7.4
26.40
23.80
mmol/l
—
6
28
23
314
0.68
0.91
2.0
2.0
—
—
—
0
0
74
645
1.33
0.85
4.7
8.3
0.12
0.19
e9/l
7.88
64
556
20
141
1.49
0.80
4.6
11.6
4.59
5.21
kpa
0.85
20
141
71
619
1.31
0.80
5.2
7.8
32.07
33.36
%
0.39
66
598
72
629
1.31
0.80
4.6
7.4
0.05
0.04
e9/l
3.46
62
535
72
630
1.31
0.78
4.6
7.4
0.54
0.57
e9/l
0.39
60
535
86
941
0.76
0.75
3.3
3.4
1.47
1.46
mmol/l
0.10
77
889
125
1290
0.58
0.74
20.4
18.0
137.23
135.51
g/l
0.68
125
1277
7
119
0.57
0.71
2.3
2.3
9.80
9.15
g/l
—
7
114
9
58
1.59
0.71
12.0
25.9
—
—
—
0
0
66
579
1.27
0.68
5.2
8.1
0.99
0.62
%
3.48
61
550
125
1288
0.60
0.67
20.5
18.5
39.59
40.36
%
0.57
117
1227
73
649
1.27
0.67
4.5
7.6
1.89
2.20
e9/l
2.13
63
569
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
0
22
0.00
0.60
0.0
13.3
—
1534.95
—
0
22
6
37
1.65
0.56
1.2
1.6
—
—
—
0
0
78
709
1.24
0.55
5.1
11.6
3.69
3.82
e9/l
0.16
65
603
7
108
0.63
0.51
2.3
1.6
—
—
—
0
0
20
155
1.34
0.50
1.2
1.5
—
444.00
—
0
30
101
1064
0.80
0.48
15.3
15.2
14.42
14.04
%
0.41
101
1053
89
949
0.82
0.47
4.0
3.7
2.86
2.89
mmol/l
0.13
81
895
7
50
1.42
0.46
1.6
2.2
—
—
—
0
0
21
259
0.78
0.44
2.1
1.7
—
—
—
0
0
8
55
1.48
0.44
7.4
18.6
0.99
0.62
%
—
8
55
5
32
1.58
0.42
1.0
3.2
—
—
—
0
0
56
503
1.19
0.42
5.6
4.7
0.00
0.00
estimate
—
6
87
7
102
0.67
0.41
1.3
1.2
—
—
—
0
0
8
60
1.35
0.41
21.3
18.6
96.50
93.32
%
—
8
60
0
17
0.00
0.41
0.0
1.3
—
779.41
—
0
17
0
18
0.00
0.40
0.0
1.6
—
—
—
0
0
90
950
0.84
0.37
3.3
3.5
4.65
4.73
mmol/l
0.32
82
904
56
509
1.17
0.35
4.4
3.3
0.00
0.00
estimate
—
6
79
74
689
1.16
0.34
4.1
3.9
—
—
—
0
0
21
244
0.83
0.27
1.4
1.8
—
—
—
0
0
5
72
0.68
0.27
1.0
1.0
16.88
8.71
mu/l
—
5
67
15
123
1.25
0.26
2.8
11.6
23.47
23.36
mmol/l
0.05
15
123
17
142
1.23
0.26
1.8
2.2
—
—
—
0
0
59
550
1.13
0.25
5.1
9.9
0.23
0.00
e9/l
0.50
43
421
36
325
1.15
0.24
3.3
7.5
—
—
—
0
0
87
832
1.13
0.23
5.3
3.9
40.10
37.95
mmol/mol
0.79
79
793
30
268
1.15
0.23
3.3
2.6
—
—
—
0
0
16
135
1.21
0.22
3.7
2.5
15.91
13.62
umol/l
0.64
16
128
5
40
1.26
0.22
1.8
1.7
—
—
—
0
0
54
504
1.12
0.22
4.4
3.3
0.00
0.00
estimate
—
6
87
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
9.7
—
0.64
—
0
11
0
11
0.00
0.21
0.0
1.1
—
207.62
—
0
11
0
10
0.00
0.21
0.0
38.7
—
166.78
—
0
10
0
10
0.00
0.21
0.0
2.0
—
1.68
—
0
10
0
10
0.00
0.21
0.0
1.4
—
—
—
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
6
48
1.26
0.20
1.0
1.1
—
—
—
0
0
32
291
1.13
0.19
2.9
2.7
—
—
—
0
0
21
185
1.16
0.19
1.2
1.2
12.30
27.21
iu/ml
—
8
57
24
214
1.15
0.19
3.3
3.3
18977.88
4138.63
umol/l
0.36
24
200
17
147
1.18
0.19
9.2
12.3
—
—
—
0
0
7
58
1.22
0.18
1.4
1.2
—
—
—
0
0
7
58
1.22
0.18
4.6
4.8
—
—
—
0
0
37
342
1.11
0.17
2.1
1.5
1.88
1.97
g/l
0.12
16
197
5
66
0.75
0.17
2.8
1.4
219.80
292.08
mu/l
—
5
61
28
255
1.12
0.17
5.8
3.4
0.00
0.00
estimate
—
6
83
14
122
1.16
0.14
3.4
2.5
2.46
2.55
g/l
0.20
14
113
37
346
1.10
0.14
2.7
4.2
14.55
44.97
e6/l
1.01
26
222
13
115
1.14
0.11
14.2
15.5
102.85
104.76
mmol/l
0.67
13
115
26
279
0.92
0.11
2.8
3.3
—
—
—
0
0
5
43
1.17
0.10
1.6
1.4
0.23
0.23
g/l
—
5
43
88
900
0.94
0.10
3.5
3.3
6.09
5.67
mmol/l
0.81
80
842
25
233
1.09
0.10
3.5
2.4
—
—
—
0
0
11
124
0.88
0.09
1.7
1.9
—
—
—
0
0
27
253
1.08
0.09
5.0
3.5
—
—
—
0
0
60
581
1.06
0.08
3.7
2.7
—
—
—
0
0
7
65
1.08
0.08
11.0
3.2
—
—
—
0
0
7
80
0.87
0.07
2.3
2.9
—
—
—
0
0
18
193
0.92
0.07
2.2
1.7
—
—
—
0
0
17
159
1.08
0.05
8.3
17.6
25.91
24.28
mmol/l
1.80
17
159
113
1139
0.95
0.03
14.5
11.5
24.80
20.65
mg/l
0.62
94
842
11
102
1.09
0.03
2.8
4.1
0.21
0.22
g/l
0.11
11
94
19
182
1.05
0.02
3.1
3.0
—
—
—
0
0
116
1167
0.96
0.01
13.0
9.3
—
—
—
0
0
10
106
0.94
0.01
1.2
1.2
—
—
—
0
0
10
96
1.04
0.00
1.2
1.4
—
—
—
0
0
30
296
1.02
0.00
2.7
3.4
47.87
33.83
e6/l
0.20
24
215
18
183
0.98
0.00
1.3
1.2
5.50
8.14
u/ml
—
6
73
27
272
0.99
0.00
2.8
3.4
0.24
0.16
e6/l
0.29
21
192
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
0.00
0.0
3.9
—
33.11
—
0
9
0
9
0.00
0.00
0.0
2.0
—
6.93
—
0
9
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
0.00
0.0
2.0
—
72.44
—
0
9
0
6
0.00
-0.00
0.0
1.2
—
2.71
—
0
6
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
202.73
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
1.53
—
0
7
25
250
1.00
-0.00
3.1
2.7
24.32
16.95
ng/l
0.48
19
121
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
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
7.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
0.94
—
0
7
0
5
0.00
-0.00
0.0
1.6
—
64.60
—
0
5
0
6
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
16.8
—
6.97
—
0
6
0
6
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
7.36
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
4.77
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
50
1.00
-0.00
5.8
3.4
67.14
66.30
g/l
—
5
50
0
8
0.00
-0.00
0.0
26.6
—
0.74
—
0
8
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
1.02
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0

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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