No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
84 |
4. Check minimum number of eventsNone |
84 |
5. Include endpointsNone |
84 |
6. Filter based on genotype QC (FinnGen only) |
84 |
Control definitions (FinnGen only)
- Control exclude
- F5_MENTRET
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- F70-F79
- Name in latin
- Retardatio mentalis gravis
Similar endpoints
↥List of similar endpoints to
Severe mental retardation
based on the number of shared cases.
Similar with more cases:
- Mental retardation
- Mental retardation, excluding more controls
- Mental retardation, wide definition
- Psychiatric diseases
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 5092 | 2194 | 2897 |
| Only index persons | 4034 | 1735 | 2299 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.06 | 0.08 |
| Only index persons | 0.08 | 0.06 | 0.09 |
| Median age at first event (years) | |||
| Whole population | 23.02 | 24.33 | 22.03 |
| Only index persons | 22.29 | 23.33 | 21.50 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 84 | 33 | 51 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | 18.32 | 15.72 | 20.01 |
-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
- 80
- Matched controls
- 797
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
F72.0
ICD-10 Finland
Severe mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
61.6
51
*
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
31.3
28
*
N03AG01
ATC
valproic acid; systemic, rectal
33.4
26.6
35
18
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
25.1
24.9
36
25
F72.1
ICD-10 Finland
Severe mental retardation, significant impairment of behaviour requiring attention or treatment
+∞
20.7
19
*
183
Kela drug reimbursment
Lamotrigin and topiramate
140.2
20.7
21
*
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
47.9
20.3
24
7
N05BA09
ATC
clobazam; oral
74.5
20.1
22
*
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
18.4
17
*
F79.9
ICD-10 Finland
Unspecified mental retardation, without mention of impairment of behaviour
+∞
17.3
16
*
N03AX14
ATC
levetiracetam; systemic
28.6
17.2
23
11
N05BA01
ATC
diazepam; systemic, rectal
12.0
17.2
34
46
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
+∞
16.2
15
*
N03AX11
ATC
topiramate; oral
32.7
15.6
20
8
G40.9
ICD-10 Finland
Epilepsy, unspecified
20.9
15.6
23
15
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
10.4
15.1
32
48
P85
ICPC
Mental retardation
+∞
15.1
14
*
N05CD08
ATC
midazolam; nasal, systemic
26.1
14.7
20
10
G40.89
ICD-10 Finland
Other epilepsy
83.6
13.0
14
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
+∞
12.8
12
*
N03AG04
ATC
vigabatrin; oral
+∞
12.8
12
*
181
Kela drug reimbursment
Retigabine and vigabatrin
+∞
11.7
11
*
F72.9
ICD-10 Finland
Severe mental retardation, without mention of impairment of behaviour
+∞
11.7
11
*
113
Kela drug reimbursment
Anxiety disorders associated with mental retardation
+∞
11.7
11
*
N03AX09
ATC
lamotrigine; oral
13.6
11.6
20
19
N05AX08
ATC
risperidone; systemic
10.4
11.1
22
28
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
9.6
11.0
23
32
N03AF01
ATC
carbamazepine; oral, rectal
15.0
10.4
17
14
N03AF02
ATC
oxcarbazepine; oral
16.3
10.2
16
12
F73.0
ICD-10 Finland
Profound mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
9.6
9
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
4.7
9.0
37
123
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
56.4
8.9
10
*
N03AX18
ATC
lacosamide; systemic
56.4
8.9
10
*
A06AD11
ATC
lactulose; oral
6.3
8.9
25
54
SPAT1229
SPAT
Assessment of need for aid
10.8
8.5
16
18
N03AX15
ATC
zonisamide; oral
+∞
8.5
8
*
N03AX22
ATC
perampanel; oral
+∞
8.5
8
*
R62.0
ICD-10 Finland
Delayed milestone
13.8
8.5
14
12
Z01.1
ICD-10 Finland
Examination of ears and hearing
4.9
8.0
29
83
TJD20
NOMESCO Finland
Change of gastrostomy tube
28.2
7.8
10
*
504
Kela drug reimbursment
Conditions requiring daily forced enteral nutrition
12.7
7.6
13
12
A03FA02
ATC
cisapride; oral, rectal
12.7
7.6
13
12
M41.4
ICD-10 Finland
Neuromuscular scoliosis
87.9
7.6
8
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
6.3
7.5
20
40
N03AF03
ATC
rufinamide; oral
+∞
7.4
7
*
RT274
NOMESCO Finland
NA
+∞
7.4
7
*
JDB10
NOMESCO Finland
Percutaneous gastrostomy
22.5
7.3
10
5
H50.30
ICD-10 Finland
Intermittent esotropy
18.8
6.9
10
6
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
43.9
6.9
8
*
U04
ICPC
Incontinence urine
13.9
6.8
11
9
7803A
ICD-9 Finland
General symptoms, Convulsions
75.6
6.5
7
*
F79.1
ICD-10 Finland
Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment
+∞
6.3
6
*
R1260
NOMESCO Finland
Evaluation of communicative skills
16.6
6.1
9
6
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
7.1
6.0
14
23
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
14
34
4.74
5.61
3.9
2.9
—
—
—
0
0
32
154
2.74
4.51
2.4
2.8
50.1
53.7
u/l
0.40
27
149
49
298
2.55
4.21
9.8
11.8
1.2
1.2
mmol/l
0.37
44
276
43
250
2.48
4.02
5.2
4.8
0.0
0.0
estimate
—
10
36
43
254
2.42
3.84
4.2
3.4
0.0
0.0
estimate
—
10
33
42
253
2.32
3.50
4.3
3.4
0.0
0.0
estimate
—
9
33
27
134
2.50
3.46
5.0
3.5
0.0
0.0
estimate
—
9
34
32
181
2.24
3.01
4.8
3.3
—
—
—
0
0
34
201
2.16
2.85
3.3
4.4
—
—
—
0
0
15
62
2.73
2.72
1.4
1.7
—
—
—
0
0
5
8
6.56
2.40
1.2
1.1
—
—
—
0
0
14
60
2.60
2.37
1.4
1.9
—
—
—
0
0
7
19
3.92
2.20
1.3
1.6
—
—
—
0
0
17
83
2.31
2.20
1.6
1.9
—
—
—
0
0
28
171
1.96
2.05
2.9
3.7
0.9
0.3
e6/l
0.50
23
130
21
116
2.08
2.02
13.0
8.0
2.2
1.5
mmol/l
0.41
15
91
5
11
4.76
1.97
1.2
1.8
—
—
—
0
0
0
51
0.00
1.96
0.0
1.2
—
3.5
—
0
38
0
50
0.00
1.96
0.0
1.9
—
—
—
0
0
55
424
1.86
1.92
5.4
6.4
126.3
105.8
u/l
0.88
48
394
22
128
1.97
1.83
12.3
13.7
25.8
25.2
mmol/l
0.23
22
128
38
267
1.77
1.76
4.3
8.0
9.7
14.1
umol/l
0.94
30
256
10
44
2.44
1.60
3.2
7.4
128.4
126.0
g/l
—
10
44
11
51
2.33
1.58
3.8
11.1
5.1
5.1
kpa
0.14
11
51
11
51
2.33
1.58
3.9
11.0
13.0
14.3
kpa
0.28
11
51
0
42
0.00
1.57
0.0
1.7
—
—
—
0
0
73
636
2.13
1.53
8.6
9.8
26.5
26.9
u/l
0.07
68
616
6
21
2.99
1.53
1.3
1.7
—
—
—
0
0
18
106
1.89
1.44
12.4
7.6
24.7
24.4
mmol/l
0.18
18
106
7
29
2.54
1.42
1.6
2.1
—
—
—
0
0
6
23
2.73
1.39
1.0
2.4
—
—
—
0
0
18
108
1.85
1.36
3.3
3.4
2.6
1.6
e6/l
—
10
69
0
41
0.00
1.35
0.0
4.0
—
30.7
—
0
26
72
633
1.96
1.34
13.0
13.1
59.0
69.6
umol/l
3.20
72
633
8
36
2.35
1.28
1.5
1.4
—
—
—
0
0
0
35
0.00
1.18
0.0
1.7
—
—
—
0
0
5
21
2.46
1.10
6.2
17.9
24.6
23.9
mmol/l
—
5
21
25
175
1.61
1.10
3.3
2.9
2.4
2.4
mmol/l
0.65
25
158
9
46
2.07
1.08
6.9
8.8
—
—
—
0
0
0
29
0.00
1.00
0.0
1.6
—
—
—
0
0
0
28
0.00
0.99
0.0
1.8
—
—
—
0
0
0
30
0.00
0.99
0.0
1.5
—
—
—
0
0
47
550
0.67
0.98
3.7
3.5
—
—
—
0
0
15
223
0.60
0.97
1.3
2.0
—
—
—
0
0
30
230
1.47
0.87
3.9
3.7
—
—
—
0
0
14
90
1.67
0.84
2.0
2.6
357.9
325.7
nmol/l
0.23
14
82
6
32
1.94
0.83
5.3
13.7
0.8
1.3
%
—
6
32
51
437
1.43
0.80
11.5
9.2
104.9
88.8
ml/min/173m2
2.31
40
317
14
92
1.63
0.78
5.4
9.5
0.8
0.8
mmol/l
0.23
14
86
6
34
1.82
0.78
1.5
8.0
23.4
23.9
mmol/l
—
6
34
5
28
1.83
0.67
1.0
1.6
—
—
—
0
0
0
21
0.00
0.61
0.0
1.5
—
4.2
—
0
12
5
86
0.56
0.60
1.8
2.2
—
—
—
0
0
0
23
0.00
0.59
0.0
1.3
—
0.0
—
0
6
25
199
1.36
0.57
2.8
4.9
25.8
30.9
u/l
1.14
25
193
15
111
1.43
0.51
2.2
3.5
0.4
0.5
e6/l
—
7
71
68
636
1.36
0.46
17.9
12.2
33.7
23.9
mg/l
1.02
58
445
20
160
1.33
0.44
1.5
1.8
94.8
94.8
pmol/l
0.00
12
87
5
32
1.60
0.43
2.6
6.2
33.9
57.5
%
—
5
32
0
16
0.00
0.41
0.0
5.5
—
98.5
—
0
16
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
4.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.7
—
—
—
0
0
0
18
0.00
0.40
0.0
1.7
—
—
—
0
0
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
0
18
0.00
0.40
0.0
4.3
—
0.2
—
0
11
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
43
474
0.81
0.38
2.9
3.6
1.2
1.2
mmol/l
0.07
36
446
16
127
1.32
0.37
2.9
2.7
—
—
—
0
0
45
488
0.83
0.31
3.2
3.7
1.4
1.4
mmol/l
0.40
37
458
5
39
1.30
0.23
1.8
14.7
0.8
1.4
%
—
5
39
5
40
1.27
0.23
2.2
9.8
2.5
3.0
g/l
—
5
40
0
11
0.00
0.21
0.0
1.0
—
79.3
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
10
0.00
0.21
0.0
2.4
—
128.7
—
0
10
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
49
467
1.12
0.15
3.3
3.6
15.0
14.7
pmol/l
0.27
42
434
48
500
0.91
0.12
3.4
4.1
2.6
2.7
mmol/l
0.48
39
471
57
551
1.11
0.12
3.6
4.0
1.7
2.0
mu/l
2.07
49
512
51
492
1.09
0.10
3.6
3.6
6.0
5.8
mmol/l
0.33
44
459
5
47
1.07
0.09
2.0
9.3
88.4
89.4
%
—
5
47
36
377
0.92
0.09
3.0
4.2
58.2
41.3
u/l
0.65
31
364
25
237
1.08
0.06
1.3
1.7
0.4
1.3
u/ml
—
7
36
11
108
1.02
0.00
3.7
3.8
19.1
21.3
%
—
5
41
29
287
1.02
0.00
2.4
3.2
67.2
87.0
ug/l
0.54
24
275
49
492
0.99
0.00
3.0
3.9
4.4
4.5
mmol/l
0.37
42
466
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
0
7
0.00
0.00
0.0
6.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
3.3
—
—
—
0
0
0
5
0.00
0.00
0.0
3.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
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
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.3
—
123.4
—
0
9
Mortality – FinRegistry
↥Association
Association between endpoint F5_SEVRET and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| F5_SEVRET | 7.236 [4.69, 11.16] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.367 |
During the follow-up period (1.1.1998 — 31.12.2019), 263 out of 981 females with F5_SEVRET died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| F5_SEVRET | 5.907 [4.34, 8.03] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.091 |
During the follow-up period (1.1.1998 — 31.12.2019), 324 out of 1391 males with F5_SEVRET died.
Mortality risk
Mortality risk for people of age
years, who have F5_SEVRET.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.712% | 1.176% |
| 5 | 4.535% | 7.074% |
| 10 | 9.503% | 17.82% |
| 15 | 18.507% | 31.6% |
| 20 | 31.77% | 46.652% |
Relationships between endpoints
↥Index endpoint: F5_SEVRET – Severe mental retardation
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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