Severe mental retardation

F5_SEVRET

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 F72
  • Hospital discharge: ICD-9 3181
  • Hospital discharge: ICD-8 313
  • Cause of death: ICD-10 F72
  • Cause of death: ICD-9 3181
  • Cause of death: ICD-8 313

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

84

4. Check minimum number of events

None

84

5. Include endpoints

None

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

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 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
*
N03AG04
ATC
vigabatrin; oral
+∞
12.8
12
*
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
+∞
12.8
12
*
F72.9
ICD-10 Finland
Severe mental retardation, without mention of impairment of behaviour
+∞
11.7
11
*
181
Kela drug reimbursment
Retigabine and vigabatrin
+∞
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
N03AX22
ATC
perampanel; oral
+∞
8.5
8
*
N03AX15
ATC
zonisamide; 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
RT274
NOMESCO Finland
NA
+∞
7.4
7
*
N03AF03
ATC
rufinamide; oral
+∞
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
unit
cases
controls
-log10(p)
N cases
N controls
(3026008) Bacteria identified in Urine by Culture
31
117
3.61
6.98
3.8
2.8
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
14
34
4.74
5.61
3.9
2.9
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
32
140
3.08
5.51
5.0
4.2
—
—
—
0
0
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
32
154
2.74
4.51
2.4
2.8
u/l
50.1
53.7
0.40
27
149
(3000850) Epithelial cells [#/volume] in Urine
27
122
2.79
4.26
1.9
2.9
e6/l
17.0
4.6
0.76
20
105
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
49
298
2.55
4.21
9.8
11.8
mmol/l
1.2
1.2
0.37
44
276
(3021601) Nitrite [Presence] in Urine by Test strip
43
250
2.48
4.02
5.2
4.8
estimate
0.0
0.0
—
10
36
(3009261) Glucose [Presence] in Urine by Test strip
43
254
2.42
3.84
4.2
3.4
estimate
0.0
0.0
—
10
33
(3035350) Ketones [Presence] in Urine by Test strip
42
253
2.32
3.50
4.3
3.4
estimate
0.0
0.0
—
9
33
(3029937) Albumin [Presence] in Urine by Test strip
27
134
2.50
3.46
5.0
3.5
estimate
0.0
0.0
—
9
34
(3002582) Erythrocytes [#/volume] in Urine
33
185
2.29
3.20
3.3
3.7
e6/l
119.9
42.8
0.30
28
143
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
32
181
2.24
3.01
4.8
3.3
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
53
369
2.18
2.93
5.4
4.0
—
—
—
0
0
(3028271) Lactate [Moles/volume] in Capillary blood
6
9
7.07
2.92
2.7
2.0
mmol/l
1.7
1.4
—
6
9
(3022313) Gas panel - Capillary blood
21
100
2.47
2.90
9.2
8.0
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
34
201
2.16
2.85
3.3
4.4
—
—
—
0
0
(3013005) Retinol [Moles/volume] in Serum or Plasma
6
10
6.36
2.74
1.0
3.1
umol/l
1.8
2.1
—
6
10
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
15
62
2.73
2.72
1.4
1.7
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
35
215
2.08
2.62
4.6
4.5
e6/l
66.0
42.8
0.20
27
154
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
5
8
6.56
2.40
1.2
1.1
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
14
60
2.60
2.37
1.4
1.9
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
7
19
3.92
2.20
1.3
1.6
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
17
83
2.31
2.20
1.6
1.9
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
22
122
2.09
2.10
3.9
2.7
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
28
171
1.96
2.05
2.9
3.7
e6/l
0.9
0.3
0.50
23
130
(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation
21
116
2.08
2.02
13.0
8.0
mmol/l
2.2
1.5
0.41
15
91
(3021901) Oxygen saturation in Capillary blood
6
16
3.95
1.97
2.3
2.6
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
5
11
4.76
1.97
1.2
1.8
—
—
—
0
0
(3023351) European house dust mite IgE Ab [Units/volume] in Serum
0
51
0.00
1.96
0.0
1.2
—
3.5
—
0
38
(3003888) Timothy IgE Ab [Units/volume] in Serum
0
50
0.00
1.96
0.0
1.1
—
7.6
—
0
42
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
0
50
0.00
1.96
0.0
1.9
—
—
—
0
0
(3000492) Spirometry study
0
53
0.00
1.95
0.0
1.5
—
—
—
0
0
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
55
424
1.86
1.92
5.4
6.4
u/l
126.3
105.8
0.88
48
394
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
22
128
1.97
1.83
12.3
13.7
mmol/l
25.8
25.2
0.23
22
128
(3011397) Hemoglobin [Presence] in Urine by Test strip
23
136
1.95
1.83
4.0
3.6
—
—
—
0
0
(3010726) Horse dander IgE Ab [Units/volume] in Serum
0
48
0.00
1.76
0.0
1.1
—
3.3
—
0
17
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
38
267
1.77
1.76
4.3
8.0
umol/l
9.7
14.1
0.94
30
256
(3008401) Mugwort IgE Ab [Units/volume] in Serum
0
49
0.00
1.75
0.0
1.1
—
1.7
—
0
38
(46235355) HIV 1 and 2 tests - Meaningful Use set
6
141
0.38
1.73
1.3
1.8
—
—
—
0
0
(3002173) Hemoglobin [Mass/volume] in Arterial blood
10
44
2.44
1.60
3.2
7.4
g/l
128.4
126.0
—
10
44
(3027946) Carbon dioxide [Partial pressure] in Arterial blood
11
51
2.33
1.58
3.8
11.1
kpa
5.1
5.1
0.14
11
51
(3027801) Oxygen [Partial pressure] in Arterial blood
11
51
2.33
1.58
3.9
11.0
kpa
13.0
14.3
0.28
11
51
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
0
42
0.00
1.57
0.0
1.7
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
44
0.00
1.56
0.0
1.4
—
—
—
0
0
(3000991) Gas panel - Venous blood
20
119
1.89
1.55
4.3
10.9
—
—
—
0
0
(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
73
636
2.13
1.53
8.6
9.8
u/l
26.5
26.9
0.07
68
616
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
6
21
2.99
1.53
1.3
1.7
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
9
38
2.53
1.51
4.1
2.9
—
—
—
0
0
(3018418) pH of Serum or Plasma
23
145
1.81
1.49
3.1
3.3
ph
7.4
7.4
—
5
20
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
7
28
2.63
1.48
4.0
13.4
—
—
—
0
0
(3012544) pH of Venous blood
21
130
1.82
1.44
3.1
11.8
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
18
106
1.89
1.44
12.4
7.6
mmol/l
24.7
24.4
0.18
18
106
(3042936) Bacteria identified in Isolate by Culture
13
68
2.08
1.42
1.5
1.8
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
7
29
2.54
1.42
1.6
2.1
—
—
—
0
0
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
6
23
2.73
1.39
1.0
2.4
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
18
108
1.85
1.36
3.3
3.4
e6/l
2.6
1.6
—
10
69
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
0
41
0.00
1.35
0.0
4.0
—
30.7
—
0
26
(3032080) INR in Blood by Coagulation assay
27
184
1.69
1.34
6.3
8.3
inr
1.1
1.4
2.45
11
50
(3020564) Creatinine [Moles/volume] in Serum or Plasma
72
633
1.96
1.34
13.0
13.1
umol/l
59.0
69.6
3.20
72
633
(40761511) CBC panel - Blood by Automated count
73
646
1.99
1.31
15.8
10.2
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
8
36
2.35
1.28
1.5
1.4
—
—
—
0
0
(3015736) pH of Urine
29
205
1.63
1.24
3.8
3.4
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
25
172
1.65
1.18
3.0
3.6
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
35
0.00
1.18
0.0
1.7
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
14
82
1.85
1.13
1.5
1.5
—
—
—
0
0
(3014007) Fractional oxyhemoglobin in Arterial blood
7
31
2.37
1.13
4.7
14.2
%
96.5
95.0
—
7
31
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
5
106
0.44
1.10
1.2
1.5
—
—
—
0
0
(3014218) Bicarbonate [Moles/volume] standard in Arterial blood
5
21
2.46
1.10
6.2
17.9
mmol/l
24.6
23.9
—
5
21
(3015377) Calcium [Moles/volume] in Serum or Plasma
25
175
1.61
1.10
3.3
2.9
mmol/l
2.4
2.4
0.65
25
158
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
9
46
2.07
1.08
6.9
8.8
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
9
154
0.53
1.01
1.2
1.9
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
29
0.00
1.00
0.0
1.6
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
28
0.00
0.99
0.0
1.8
—
—
—
0
0
(3014133) Dog dander IgE Ab [Units/volume] in Serum
0
28
0.00
0.99
0.0
1.1
—
6.1
—
0
18
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
30
0.00
0.99
0.0
1.5
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
47
550
0.67
0.98
3.7
3.5
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
15
223
0.60
0.97
1.3
2.0
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
10
56
1.89
0.92
1.3
1.4
—
—
—
0
0
(3020891) Body temperature
6
30
2.07
0.89
3.2
7.0
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
30
230
1.47
0.87
3.9
3.7
—
—
—
0
0
(3036481) Cortisol [Moles/volume] in Serum or Plasma
14
90
1.67
0.84
2.0
2.6
nmol/l
357.9
325.7
0.23
14
82
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
6
32
1.94
0.83
5.3
13.7
%
0.8
1.3
—
6
32
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
6
32
1.94
0.83
5.3
13.7
%
0.8
0.7
—
6
32
(3023430) Cat dander IgE Ab [Units/volume] in Serum
0
25
0.00
0.80
0.0
1.2
—
8.1
—
0
18
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
51
437
1.43
0.80
11.5
9.2
ml/min/173m2
104.9
88.8
2.31
40
317
(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum
0
26
0.00
0.80
0.0
1.2
—
0.6
—
0
14
(3012095) Magnesium [Moles/volume] in Serum or Plasma
14
92
1.63
0.78
5.4
9.5
mmol/l
0.8
0.8
0.23
14
86
(3008152) Bicarbonate [Moles/volume] in Arterial blood
6
34
1.82
0.78
1.5
8.0
mmol/l
23.4
23.9
—
6
34
(3002256) Pathology report gross observation
7
40
1.82
0.73
1.6
1.2
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
7
43
1.68
0.68
1.4
15.3
g/l
136.3
125.1
—
7
43
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
5
28
1.83
0.67
1.0
1.6
—
—
—
0
0
(3019060) Gas panel - Arterial blood
5
30
1.71
0.62
3.4
4.0
—
—
—
0
0
(3044889) 12 lead EKG panel
29
351
0.73
0.62
2.8
3.0
—
—
—
0
0
(1002224) Polysomnography panel
0
20
0.00
0.61
0.0
1.1
—
—
—
0
0
(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method
0
21
0.00
0.61
0.0
1.5
—
4.2
—
0
12
(3001019) Free T4 and TSH panel - Serum or Plasma
0
21
0.00
0.61
0.0
1.5
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
22
0.00
0.60
0.0
1.4
—
—
—
0
0
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
0
22
0.00
0.60
0.0
1.5
—
1.2
—
0
22
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
0
22
0.00
0.60
0.0
1.5
—
0.2
—
0
22
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
22
0.00
0.60
0.0
1.1
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
5
86
0.56
0.60
1.8
2.2
—
—
—
0
0
(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood
0
23
0.00
0.59
0.0
1.3
—
0.0
—
0
6
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
25
199
1.36
0.57
2.8
4.9
u/l
25.8
30.9
1.14
25
193
(40758558) Short blood count panel - Blood
27
219
1.34
0.55
5.5
7.6
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
15
111
1.43
0.51
2.2
3.5
e6/l
0.4
0.5
—
7
71
(3044640) Blood type and Crossmatch panel - Blood
20
157
1.36
0.49
3.1
2.7
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
5
85
0.56
0.48
1.2
1.4
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
68
636
1.36
0.46
17.9
12.2
mg/l
33.7
23.9
1.02
58
445
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
20
160
1.33
0.44
1.5
1.8
pmol/l
94.8
94.8
0.00
12
87
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
5
32
1.60
0.43
2.6
6.2
%
33.9
57.5
—
5
32
(36660697) Celiac disease serology panel - Serum
7
103
0.65
0.42
1.0
1.3
—
—
—
0
0
(3027273) Bicarbonate [Moles/volume] in Venous blood
5
33
1.55
0.42
1.6
7.4
mmol/l
24.2
24.3
—
5
33
(3045462) Protein/Creatinine [Ratio] in Urine
0
15
0.00
0.41
0.0
4.7
—
65.7
—
0
8
(3000060) B lymphocytes [#/volume] in Blood
0
16
0.00
0.41
0.0
4.5
—
316.3
—
0
8
(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood
0
16
0.00
0.41
0.0
4.7
—
28.1
—
0
16
(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay
0
16
0.00
0.41
0.0
5.5
—
98.5
—
0
16
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
(4062490)
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
0
17
0.00
0.41
0.0
4.4
—
—
—
0
0
(3006245) CD3-CD19+ cells/100 cells in Blood
0
17
0.00
0.41
0.0
4.6
—
15.7
—
0
17
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
(1175426) CD3 cells/100 lymphocytes in Blood
0
17
0.00
0.41
0.0
4.5
—
67.0
—
0
17
(3001405) CD3+CD8+ (T8 suppressor) cells [#/volume] in Blood
0
18
0.00
0.40
0.0
4.3
—
498.3
—
0
11
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
0
18
0.00
0.40
0.0
2.0
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
18
0.00
0.40
0.0
1.7
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
18
0.00
0.40
0.0
1.7
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
(3025271) CD3-CD16+CD56+ (Natural killer) cells [#/volume] in Blood
0
18
0.00
0.40
0.0
4.3
—
0.2
—
0
11
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
18
0.00
0.40
0.0
1.2
—
116.9
—
0
7
(21494815) CD4 cells/100 lymphocytes in Specimen
0
18
0.00
0.40
0.0
3.9
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
(3011412) CD3 cells [#/volume] in Blood
0
18
0.00
0.40
0.0
4.3
—
1.2
—
0
9
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
(40761535) Cells panel - Urine sediment
5
35
1.46
0.40
3.4
5.9
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
43
474
0.81
0.38
2.9
3.6
mmol/l
1.2
1.2
0.07
36
446
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
16
127
1.32
0.37
2.9
2.7
—
—
—
0
0
(3013512) EKG study
8
107
0.72
0.31
2.9
3.3
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
45
488
0.83
0.31
3.2
3.7
mmol/l
1.4
1.4
0.40
37
458
(3022096) Basophils/100 leukocytes in Blood
40
362
1.20
0.31
5.3
9.6
%
0.5
0.7
0.82
40
342
(3020961) Endomysium IgA Ab [Titer] in Serum
5
70
0.70
0.27
1.0
1.3
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
18
153
1.22
0.25
3.1
1.7
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
19
163
1.21
0.24
1.4
1.4
—
—
—
0
0
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
5
37
1.37
0.24
1.8
15.4
%
0.6
0.8
—
5
37
(3006504) Eosinophils/100 leukocytes in Blood
40
368
1.17
0.24
5.3
9.4
%
2.6
3.2
0.86
40
345
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
5
39
1.30
0.23
1.8
14.7
%
0.8
1.4
—
5
39
(4035726)
5
39
1.30
0.23
1.0
1.6
—
—
—
0
0
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
5
40
1.27
0.23
2.2
9.8
g/l
2.5
3.0
—
5
40
(3039443) Prostate specific Ag panel - Serum or Plasma
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
11
0.00
0.21
0.0
1.0
—
79.3
—
0
11
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
(3010375) cycloSPORINE [Mass/volume] in Blood
0
10
0.00
0.21
0.0
44.0
—
171.0
—
0
10
(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
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
31
282
1.16
0.21
5.4
9.9
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
41
382
1.14
0.19
5.3
9.3
%
32.5
32.3
0.03
41
365
(3019069) Monocytes/100 leukocytes in Blood
40
373
1.14
0.19
5.3
9.6
%
8.6
8.3
0.32
40
353
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
49
467
1.12
0.15
3.3
3.6
pmol/l
15.0
14.7
0.27
42
434
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
48
500
0.91
0.12
3.4
4.1
mmol/l
2.6
2.7
0.48
39
471
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
57
551
1.11
0.12
3.6
4.0
mu/l
1.7
2.0
2.07
49
512
(3018010) Neutrophils/100 leukocytes in Blood
40
381
1.10
0.11
5.8
9.1
%
52.7
53.2
0.07
40
361
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
51
492
1.09
0.10
3.6
3.6
mmol/l
6.0
5.8
0.33
44
459
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
5
47
1.07
0.09
2.0
9.3
%
88.4
89.4
—
5
47
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
36
377
0.92
0.09
3.0
4.2
u/l
58.2
41.3
0.65
31
364
(40760892) CBC W Ordered Manual Differential panel - Blood
15
136
1.13
0.09
5.3
5.4
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
21
225
0.91
0.08
1.3
1.7
g/l
1.7
1.8
0.21
14
111
(3028026) IgM [Mass/volume] in Serum or Plasma
5
64
0.77
0.08
1.6
2.1
g/l
2.0
1.1
—
5
58
(3009542) Hematocrit [Volume Fraction] of Blood
62
634
0.92
0.08
18.0
16.3
%
36.9
40.0
1.36
41
540
(3005719) IgG [Mass/volume] in Serum or Plasma
7
83
0.83
0.07
1.3
3.4
g/l
9.7
9.5
—
7
76
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
25
237
1.08
0.06
1.3
1.7
u/ml
0.4
1.3
—
7
36
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
11
108
1.02
0.00
3.7
3.8
%
19.1
21.3
—
5
41
(1761868) Lipid panel - Serum or Plasma
17
172
0.99
0.00
1.5
2.4
—
—
—
0
0
(3001122) Ferritin [Mass/volume] in Serum or Plasma
29
287
1.02
0.00
2.4
3.2
ug/l
67.2
87.0
0.54
24
275
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
49
492
0.99
0.00
3.0
3.9
mmol/l
4.4
4.5
0.37
42
466
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
6
69
0.86
0.00
1.0
1.2
—
—
—
0
0
(3016273) Islet cell 512 Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
0
5
0.00
0.00
0.0
3.4
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
0
8
0.00
0.00
0.0
2.6
—
—
—
0
0
(44816893) Food Allergen Mix 50 (Kiwi+Pineapple+Banana+Mango) IgE Ab [Units/volume] in Serum by Multidisk
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3006922) Hepatitis E virus Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3021513) Carbon dioxide [Partial pressure] in Mixed venous blood
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
(3018301) Testosterone Free [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection
0
7
0.00
0.00
0.0
6.0
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3025468) Yersinia sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3017115) Methotrexate [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
31.0
—
0.6
—
0
5
(4146454)
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
4.2
—
106.2
—
0
5
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum
0
7
0.00
0.00
0.0
3.3
—
—
—
0
0
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
3.8
—
—
—
0
0
(3021788) Differential panel - Synovial fluid
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
4.5
—
—
—
0
0
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.4
—
4.7
—
0
7
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
4.2
—
—
—
0
0
(3012568) Campylobacter sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3003633) Ovomucoid IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
2.4
—
4.2
—
0
5
(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3027901) Hemoglobin [Mass/volume] in Arterial cord blood
0
6
0.00
0.00
0.0
1.0
—
176.8
—
0
6
(3005988) Vibrio sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
5
55
0.90
0.00
1.0
1.2
—
—
—
0
0
(3024932) HLA-DR beta [Type]
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3023420) DNA double strand Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
4.2
—
3.9
—
0
5
(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3049717) Cytology report of Urine Cyto stain
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
(3025130) Human papilloma virus identified in Specimen
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(40768446) Kidney Pathology biopsy report
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
(3032352) Blasts [#/volume] in Cerebral spinal fluid
0
7
0.00
0.00
0.0
5.6
—
—
—
0
0
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015183) Erythrocyte sedimentation rate
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3042733) HLA Ab [Presence] in Serum
0
6
0.00
0.00
0.0
2.5
—
—
—
0
0
(3045142) Bone marrow Pathology biopsy report
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
(3002621) Streptococcal DNAse B [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3045683) HLA typing for celiac disease panel - Blood or Tissue
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3027544) Mycobacterium sp identified in Sputum by Organism specific culture
0
5
0.00
0.00
0.0
3.6
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(21494890) Protein electrophoresis panel - 24 hour Urine
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3013336) Amino acids [Identifier] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3024522) Salmonella sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3001186) Copper [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.2
—
16.8
—
0
5
(3038071) Oxygen [Partial pressure] in Mixed venous blood
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
(3041672) Baker's yeast Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3024471) HLA-A [Type]
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3001684) Respiratory syncytial virus Ag [Presence] in Specimen
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
(3036035) von Willebrand factor (vWf) Ag actual/normal in Platelet poor plasma by Immunoassay
0
9
0.00
-0.00
0.0
2.3
—
123.4
—
0
9
(4268621)
0
9
0.00
-0.00
0.0
2.4
—
—
—
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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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