No definition available.
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. |
91 |
4. Check minimum number of eventsNone |
91 |
5. Include endpointsNone |
91 |
6. Filter based on genotype QC (FinnGen only) |
87 |
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, excluding more controls
- Mental retardation
- 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 | 87 | 35 | 52 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | 20.20 | 16.07 | 22.97 |
-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
- 91
- Matched controls
- 910
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
+∞
70.1
58
*
N03AG01
ATC
valproic acid; systemic, rectal
30.3
53.0
41
24
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
21.1
44.2
41
34
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
37.0
33
*
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
11.7
29.4
40
57
N05BA01
ATC
diazepam; systemic, rectal
11.8
28.2
37
50
N05BA09
ATC
clobazam; oral
59.6
25.5
29
7
F72.1
ICD-10 Finland
Severe mental retardation, significant impairment of behaviour requiring attention or treatment
+∞
25.2
23
*
P85
ICPC
Mental retardation
+∞
24.0
22
*
G40.9
ICD-10 Finland
Epilepsy, unspecified
32.9
21.6
28
12
183
Kela drug reimbursment
Lamotrigin and topiramate
64.2
21.4
24
5
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
9.7
20.4
29
42
F79.9
ICD-10 Finland
Unspecified mental retardation, without mention of impairment of behaviour
+∞
19.5
18
*
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
25.0
19.3
27
15
N05CD08
ATC
midazolam; nasal, systemic
23.4
18.9
27
16
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
18.3
17
*
N03AX11
ATC
topiramate; oral
33.6
18.0
23
9
N03AX14
ATC
levetiracetam; systemic
22.4
17.3
25
15
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
206.3
17.1
17
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
6.0
16.5
46
132
N03AG04
ATC
vigabatrin; oral
+∞
16.1
15
*
F72.9
ICD-10 Finland
Severe mental retardation, without mention of impairment of behaviour
+∞
16.1
15
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
+∞
15.0
14
*
N05AX08
ATC
risperidone; systemic
6.9
13.9
26
50
181
Kela drug reimbursment
Retigabine and vigabatrin
+∞
13.9
13
*
113
Kela drug reimbursment
Anxiety disorders associated with mental retardation
+∞
13.9
13
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
5.5
13.3
35
93
G40.89
ICD-10 Finland
Other epilepsy
38.2
13.1
16
5
N03AX09
ATC
lamotrigine; oral
14.1
12.9
22
20
A06AD11
ATC
lactulose; oral
6.3
12.8
26
54
N03AF01
ATC
carbamazepine; oral, rectal
20.0
12.3
18
11
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
6.4
12.3
24
48
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
6.3
12.0
24
49
F73.0
ICD-10 Finland
Profound mental retardation, with the statement of no, or minimal, impairment of behaviour
+∞
11.7
11
*
L28
ICPC
Limited function/disability (L)
5.8
11.6
26
59
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
6.2
11.5
23
47
R56.8
ICD-10 Finland
Other and unspecified convulsions
6.6
11.0
20
37
N03AF02
ATC
oxcarbazepine; oral
13.0
10.9
19
18
JDB10
NOMESCO Finland
Percutaneous gastrostomy
68.3
10.9
12
*
SPAT1262
SPAT
Handing over of treatment supplies
5.7
10.8
24
54
RT274, ,
NOMESCO Finland
+∞
10.6
10
*
504
Kela drug reimbursment
Conditions requiring daily forced enteral nutrition
23.3
10.2
14
7
U04
ICPC
Incontinence urine
24.9
9.7
13
6
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
5.0
9.6
25
64
M41.4
ICD-10 Finland
Neuromuscular scoliosis
+∞
9.5
9
*
SPAT1229
SPAT
Assessment of need for aid
11.3
9.3
17
18
TJD20
NOMESCO Finland
Change of gastrostomy tube
55.5
8.9
10
*
G41.9
ICD-10 Finland
Status epilepticus, unspecified
98.8
8.6
9
*
F79.1
ICD-10 Finland
Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment
+∞
8.5
8
*
N03AF03
ATC
rufinamide; oral
+∞
8.5
8
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
5.0
8.3
21
52
R62.0
ICD-10 Finland
Delayed milestone
9.2
8.3
17
22
N03AX18
ATC
lacosamide; systemic
24.7
8.2
11
5
R5110, ,
SPAT
12.5
8.1
14
13
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
17.0
8.0
12
8
N03AX15
ATC
zonisamide; oral
49.4
7.9
9
*
H50.30
ICD-10 Finland
Intermittent esotropy
20.6
7.8
11
6
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
9.0
7.8
16
21
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
15.1
7.6
12
9
NAG53
NOMESCO Finland
Posterior or lateral fusion of thoracic spine with fixation, more than 3 vertebraea
86.9
7.5
8
*
Z31.5
ICD-10 Finland
Genetic counselling
7.0
7.4
18
31
R1260
NOMESCO Finland
Evaluation of communicative skills
22.2
7.3
10
5
G03DC03
ATC
lynestrenol; oral
32.9
7.3
9
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.7
7.2
29
102
TPH04
NOMESCO Finland
Cathetrisation of vein
3.7
7.1
28
97
N03AX22
ATC
perampanel; oral
43.4
6.9
8
*
R1240
NOMESCO Finland
Social assessment of need and possibilities of rehabilitation
43.4
6.9
8
*
7803A
ICD-9 Finland
General symptoms, Convulsions
74.9
6.5
7
*
WYA20
NOMESCO Finland
Home visit
28.9
6.3
8
*
Z93.1
ICD-10 Finland
Gastrostomy status
+∞
6.3
6
*
F72
ICD-10 Finland
Severe mental retardation
+∞
6.3
6
*
Q02
ICD-10 Finland
Microcephaly
+∞
6.3
6
*
WKEHK, ,
NOMESCO Finland
+∞
6.3
6
*
G80.9
ICD-10 Finland
Cerebral palsy, unspecified
+∞
6.3
6
*
N03AA02
ATC
phenobarbital; systemic
+∞
6.3
6
*
199
Kela drug reimbursment
Rufinamide
+∞
6.3
6
*
R50.9
ICD-10 Finland
Fever, unspecified
3.3
6.3
32
130
A02BC01
ATC
omeprazole; systemic
3.4
6.1
28
106
F83
ICD-10 Finland
Mixed specific developmental disorders
9.0
6.1
12
15
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
16.4
6.0
9
6
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
16.4
6.0
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
47
273
2.49
4.39
5.0
4.6
0.00
0.00
estimate
-0.00
11
40
47
277
2.44
4.21
4.1
3.4
0.00
0.00
estimate
-0.00
11
37
53
332
2.43
4.12
9.5
10.9
1.23
1.22
mmol/l
0.49
47
308
14
37
4.28
4.11
3.9
2.8
—
—
—
0
0
30
146
2.57
4.02
4.8
3.4
0.00
0.00
estimate
—
10
38
32
163
2.49
3.88
2.4
2.8
50.15
52.84
u/l
0.28
27
158
46
276
2.35
3.87
4.2
3.3
0.00
0.00
estimate
-0.00
11
40
35
197
2.26
3.32
4.6
3.2
—
—
—
0
0
25
131
2.25
2.75
11.6
7.4
5.32
5.15
kpa
0.42
25
126
36
224
2.00
2.53
3.3
4.1
—
—
—
0
0
15
65
2.57
2.47
1.4
1.6
—
—
—
0
0
5
8
6.53
2.40
1.2
1.1
—
—
—
0
0
24
131
2.13
2.37
11.7
7.4
2.33
1.42
mmol/l
0.53
17
100
60
455
1.94
2.28
5.1
6.5
126.40
106.52
u/l
0.92
53
424
7
19
3.90
2.20
1.3
1.6
—
—
—
0
0
0
56
0.00
2.15
0.0
1.3
—
3.06
—
0
46
14
63
2.44
2.14
1.4
1.9
—
—
—
0
0
17
86
2.20
2.01
1.6
1.9
—
—
—
0
0
5
11
4.74
1.96
1.2
1.8
—
—
—
0
0
0
54
0.00
1.93
0.0
1.8
—
—
—
0
0
30
192
1.84
1.86
3.0
3.5
0.85
0.32
e6/l
0.42
24
149
24
143
1.92
1.85
11.6
12.7
25.90
25.15
mmol/l
0.38
24
143
41
293
1.73
1.74
4.2
7.8
15.85
16.91
umol/l
0.05
33
281
79
689
2.11
1.62
12.6
12.6
60.59
68.70
umol/l
1.48
79
689
14
72
2.12
1.59
1.6
1.8
606.44
441.98
pmol/l
—
9
66
0
43
0.00
1.57
0.0
4.1
—
31.17
—
0
29
79
692
2.07
1.55
8.3
9.7
26.24
27.22
u/l
0.19
74
670
0
45
0.00
1.55
0.0
1.7
—
—
—
0
0
6
21
2.98
1.53
1.3
1.7
—
—
—
0
0
10
45
2.37
1.52
3.2
7.3
128.40
126.40
g/l
—
10
45
11
52
2.27
1.51
3.8
10.9
5.13
5.06
kpa
0.13
11
52
11
52
2.27
1.51
3.9
10.8
12.96
14.22
kpa
0.26
11
52
33
230
1.68
1.50
10.0
11.1
1.11
1.44
inr
2.78
13
56
20
121
1.84
1.46
11.4
7.0
24.86
24.29
mmol/l
0.41
20
121
14
76
2.00
1.39
3.8
12.0
106.00
104.03
mmol/l
0.74
14
76
0
40
0.00
1.36
0.0
1.6
—
—
—
0
0
16
252
0.56
1.29
1.3
2.0
—
—
—
0
0
51
608
0.63
1.29
3.8
3.6
—
—
—
0
0
19
118
1.77
1.27
3.3
3.3
2.60
1.46
e6/l
—
10
76
8
38
2.21
1.22
1.5
1.4
—
—
—
0
0
6
26
2.40
1.20
1.0
2.3
—
—
—
0
0
5
21
2.46
1.10
6.2
17.9
24.60
23.90
mmol/l
—
5
21
9
47
2.01
1.06
6.9
8.7
—
—
—
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
7
37
1.96
0.96
1.6
1.9
—
—
—
0
0
55
469
1.44
0.88
11.5
9.2
102.87
89.64
ml/min/173m2
1.72
43
344
5
96
0.49
0.84
1.8
2.2
—
—
—
0
0
6
32
1.94
0.83
5.3
13.7
0.82
1.27
%
—
6
32
6
32
1.94
0.83
5.3
13.7
0.77
0.69
%
—
6
32
0
24
0.00
0.80
0.0
1.5
—
4.43
—
0
16
0
26
0.00
0.80
0.0
1.3
—
0.04
—
0
6
15
102
1.56
0.73
5.1
8.7
0.81
0.80
mmol/l
0.13
15
95
31
246
1.39
0.72
2.6
2.6
—
—
—
0
0
14
96
1.54
0.66
2.0
2.6
357.86
320.13
nmol/l
0.29
14
88
17
123
1.47
0.64
3.2
3.4
5.12
10.47
mg/mmol
0.70
12
82
5
30
1.70
0.62
1.0
1.6
—
—
—
0
0
0
20
0.00
0.61
0.0
4.2
—
0.17
—
0
12
0
20
0.00
0.61
0.0
1.6
—
—
—
0
0
75
696
1.44
0.60
16.7
12.0
35.48
23.55
mg/l
1.31
62
486
6
35
1.76
0.59
1.5
7.8
23.38
24.03
mmol/l
—
6
35
16
120
1.40
0.50
2.2
3.4
0.43
0.51
e6/l
—
7
77
5
33
1.54
0.42
2.6
6.0
33.86
58.58
%
—
5
33
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
5
34
1.50
0.41
1.6
7.2
24.20
24.34
mmol/l
—
5
34
46
508
0.81
0.41
3.0
3.5
1.21
1.21
mmol/l
0.00
39
480
0
18
0.00
0.40
0.0
1.2
—
116.86
—
0
7
0
18
0.00
0.40
0.0
1.5
—
—
—
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
3.3
—
6.85
—
0
18
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
0
19
0.00
0.39
0.0
4.3
—
—
—
0
0
0
19
0.00
0.39
0.0
4.3
—
7.58
—
0
19
48
525
0.82
0.37
3.3
3.7
1.36
1.42
mmol/l
0.49
41
493
6
41
1.50
0.37
2.0
9.6
2.37
3.03
g/l
—
6
41
21
176
1.25
0.32
1.4
1.8
94.78
95.94
pmol/l
0.05
12
97
82
794
1.33
0.29
22.5
18.9
39.47
40.42
%
0.70
75
759
54
506
1.17
0.25
3.5
3.6
14.80
14.73
pmol/l
0.06
47
472
5
40
1.26
0.23
1.8
14.4
0.82
1.40
%
—
5
40
16
136
1.21
0.22
2.9
2.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
79.27
—
0
11
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
2.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
29
262
1.16
0.21
1.3
1.7
0.36
2.54
u/ml
—
7
42
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
38
410
0.87
0.21
2.9
4.3
57.53
41.62
u/l
0.63
32
397
51
537
0.89
0.18
3.6
4.0
2.61
2.72
mmol/l
0.40
43
506
62
596
1.13
0.16
3.8
4.0
1.80
2.01
mu/l
0.56
53
555
54
529
1.05
0.04
3.7
3.5
6.07
5.74
mmol/l
0.45
47
494
52
529
0.96
0.03
3.1
3.8
4.41
4.51
mmol/l
0.32
46
501
31
307
1.01
0.00
2.5
3.2
65.82
85.13
ug/l
0.55
25
294
11
109
1.01
0.00
3.7
3.7
19.10
21.34
%
—
5
41
0
5
0.00
0.00
0.0
3.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
49
1.02
0.00
2.0
8.9
88.40
89.24
%
—
5
49
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
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
7.67
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
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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