No definition available.
Trisomy 21 (Down syndrome) due to meiotic nondisjunction
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 |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
73 |
4. Check minimum number of eventsNone |
73 |
5. Include endpointsNone |
73 |
6. Filter based on genotype QC (FinnGen only) |
68 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Similar endpoints
↥List of similar endpoints to
Trisomy 21 (Down syndrome) due to meiotic nondisjunction
based on the number of shared cases.
Similar with more cases:
- Down's syndrome
- Chromosomal abnormalities, not elsewhere classified
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 68 | 42 | 26 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 18.96 | 30.35 | 0.56 |
-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
- 73
- Matched controls
- 730
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
+∞
104.9
73
*
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
56.9
47
*
Q90
ICD-10 Finland
Down syndrome
+∞
20.8
19
*
P85
ICPC
Mental retardation
61.6
19.6
22
5
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
17.4
16
*
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
9.2
16.6
25
39
H65.3
ICD-10 Finland
Chronic mucoid otitis media
7.8
12.6
21
36
H03AA01
ATC
levothyroxine sodium; systemic
6.1
12.4
30
75
UDC00
NOMESCO Finland
Ear microscopy
10.9
10.8
21
26
Q21.21
ICD-10 Finland
Atrioventricular duct
63.8
9.9
11
*
Q21.10
ICD-10 Finland
Persistent ostium secundum
35.3
9.7
12
*
Q90.1
ICD-10 Finland
Trisomy 21, mosaicism (mitotic nondisjunction)
+∞
9.6
9
*
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
22.2
9.3
13
7
75930
ICD-8 Finland
Congenital syndromes affecting multiple systems, Down's disease
+∞
8.5
8
*
201
Kela drug reimbursment
Chronic cardiac insufficiency
17.6
8.0
12
8
Q25.0
ICD-10 Finland
Patent ductus arteriosus
21.2
7.9
11
6
H61.2
ICD-10 Finland
Impacted cerumen
10.3
6.9
13
15
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.3
6.8
22
67
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
4.6
6.7
19
52
J18.9
ICD-10 Finland
Pneumonia, unspecified
4.1
6.6
23
74
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
6.8
6.5
16
29
F71
ICD-10 Finland
Moderate mental retardation
+∞
6.3
6
*
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
8.5
6.2
13
18
O35.1
ICD-10 Finland
Maternal care for (suspected) chromosomal abnormality in fetus
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
16
60
3.13
3.50
1.4
1.3
326.50
178.59
iu/ml
—
8
27
25
146
2.08
2.14
8.0
8.9
1.62
1.13
inr
—
5
42
32
211
1.92
1.92
2.0
1.6
13.40
2.65
u/ml
—
6
38
57
459
2.10
1.85
6.9
3.8
14.66
14.50
pmol/l
0.22
51
435
21
122
2.01
1.79
8.9
10.5
5.45
5.01
kpa
2.04
21
116
18
111
1.83
1.27
9.1
10.1
8.79
9.25
kpa
0.79
18
106
6
25
2.52
1.27
1.3
1.8
—
—
—
0
0
0
33
0.00
1.19
0.0
2.0
—
—
—
0
0
5
22
2.36
1.05
1.6
1.1
—
—
—
0
0
66
695
0.48
1.03
19.5
19.4
135.26
133.58
g/l
0.44
66
689
22
292
0.65
0.89
3.3
3.1
161.26
71.85
ug/l
0.59
22
281
21
150
1.56
0.86
1.7
1.8
83.83
95.42
pmol/l
—
7
87
0
24
0.00
0.81
0.0
1.5
—
0.41
—
0
9
17
232
0.65
0.76
2.9
1.9
—
—
—
0
0
9
57
1.66
0.74
3.8
4.5
273.00
359.65
u/l
—
9
57
7
40
1.83
0.74
3.0
5.1
—
—
—
0
0
12
78
1.64
0.71
3.9
2.5
332.58
332.75
nmol/l
0.00
12
73
5
28
1.84
0.67
1.8
1.8
—
—
—
0
0
39
330
1.39
0.65
6.5
12.2
5.91
6.16
mmol/l
0.51
39
300
0
21
0.00
0.61
0.0
2.4
—
—
—
0
0
0
21
0.00
0.61
0.0
1.9
—
—
—
0
0
46
408
1.34
0.53
6.3
12.4
3.64
3.69
e9/l
0.04
41
340
58
617
0.71
0.47
12.5
12.2
26.54
19.05
mg/l
0.73
48
444
15
115
1.38
0.43
3.5
11.1
1.35
1.35
mmol/l
0.01
15
110
0
15
0.00
0.41
0.0
1.6
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
1.86
—
0
7
0
16
0.00
0.41
0.0
1.4
—
15.68
—
0
6
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
8
112
0.68
0.41
1.1
1.5
—
—
—
0
0
5
35
1.46
0.40
1.8
1.7
—
—
—
0
0
24
201
1.29
0.39
4.3
8.8
35.73
36.81
g/l
0.72
24
195
56
593
0.76
0.36
3.7
4.0
—
—
—
0
0
56
591
0.77
0.33
15.5
16.9
14.54
14.06
%
0.41
56
585
16
193
0.78
0.31
6.4
3.0
—
—
—
0
0
11
139
0.75
0.30
2.5
3.2
2.12
2.69
mg/l
0.59
11
124
15
125
1.25
0.25
8.3
18.3
25.76
24.09
mmol/l
1.58
15
125
17
197
0.82
0.23
3.4
3.8
—
—
—
0
0
12
98
1.27
0.23
3.1
12.7
23.67
23.21
mmol/l
0.18
12
98
5
41
1.24
0.22
1.2
7.7
4.24
3.02
g/l
—
5
41
0
11
0.00
0.21
0.0
2.3
—
36.00
—
0
11
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
73.09
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
104.00
—
0
10
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
2.5
—
24.67
—
0
10
0
14
0.00
0.20
0.0
1.1
—
1.14
—
0
7
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.7
—
34.86
—
0
14
5
68
0.72
0.17
13.0
19.2
102.00
105.03
mmol/l
—
5
68
9
79
1.16
0.16
1.8
1.8
—
—
—
0
0
18
160
1.17
0.16
2.7
3.1
2.34
2.38
mmol/l
0.58
18
149
9
81
1.13
0.16
2.0
1.9
—
—
—
0
0
40
415
0.92
0.08
6.6
8.5
90.72
95.31
ml/min/173m2
0.72
28
312
6
71
0.83
0.08
1.2
1.9
—
—
—
0
0
25
237
1.08
0.07
3.1
3.4
—
—
—
0
0
11
99
1.13
0.07
1.3
1.2
14.20
22.07
iu/ml
—
5
28
11
100
1.12
0.05
2.0
2.0
—
—
—
0
0
15
143
1.06
0.01
2.0
3.9
44.93
52.55
u/l
0.74
15
138
13
128
1.02
0.00
4.0
3.1
—
—
—
0
0
21
213
0.98
0.00
6.6
4.1
30.19
29.64
u/l
0.06
21
207
5
52
0.96
0.00
1.4
7.6
75.20
87.73
%
—
5
52
0
7
0.00
-0.00
0.0
1.6
—
8.16
—
0
7
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
0.00
—
0
9
0
9
0.00
-0.00
0.0
1.0
—
0.00
—
0
9
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
5.06
—
0
9
0
9
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
6.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
6.18
—
0
9
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
40.68
—
0
9
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
0.00
—
0
9
0
9
0.00
-0.00
0.0
1.0
—
10.64
—
0
9
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
3.00
—
0
9
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
1.49
—
0
6
0
6
0.00
-0.00
0.0
5.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
3.92
—
0
9
0
9
0.00
-0.00
0.0
1.0
—
7.28
—
0
9
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
5.2
—
22.40
—
0
5
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
5.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
56
0.89
-0.00
1.2
1.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
5.67
—
0
8
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
5.2
—
187.40
—
0
5
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
783.00
—
0
6
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
4.6
—
32.74
—
0
8
0
9
0.00
-0.00
0.0
1.0
—
0.00
—
0
9
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
41.12
—
0
9
0
7
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
9.2
—
—
—
0
0
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).