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Congenital malformation syndromes predominantly affecting facial appearance

Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1

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 Q87.0
  • Cause of death: ICD-10 Q87.0

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

105

4. Check minimum number of events

None

105

5. Include endpoints

None

105

6. Filter based on genotype QC (FinnGen only)

105

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze
DF7

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded from FinRegistry analyses (omitted endpoint).

-FinnGen-

Key figures

All Female Male
Number of individuals 105 57 48
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 11.00 13.70 7.81

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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
94
Matched controls
937
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q87.09
ICD-10 Finland
Other congenital malformations that mainly affect the appearance of the face
830.4
49.1
44
*
Q87.06
ICD-10 Finland
Velocardiofacial syndrome
+∞
26.3
24
*
Z31.5
ICD-10 Finland
Genetic counselling
17.5
22.0
36
32
ZXE10
NOMESCO Finland
More than one and less than three hours
6.5
16.0
59
194
Z01.1
ICD-10 Finland
Examination of ears and hearing
6.8
13.8
40
92
Q87.0
ICD-10 Finland
Congenital malformation syndromes predominantly affecting facial appearance
+∞
12.8
12
*
ZXD10
NOMESCO Finland
Scheduled procedure
5.1
12.5
60
242
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
13.8
11.7
20
18
Q87.03
ICD-10 Finland
Syndrome Goldenhar
+∞
11.7
11
*
Q87.04
ICD-10 Finland
Syndrome Robin
+∞
11.7
11
*
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
8.6
11.6
26
40
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
67.9
10.9
12
*
D82.1
ICD-10 Finland
Di George syndrome
+∞
10.6
10
*
WX408
NOMESCO Finland
General anesthesy, balanced
4.4
10.4
51
200
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
7.5
9.9
24
41
F83
ICD-10 Finland
Mixed specific developmental disorders
10.8
9.6
18
20
Q35.71
ICD-10 Finland
Submucous cleft palate
+∞
9.5
9
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
41.0
9.2
11
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
4.6
9.0
36
112
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
30.7
8.7
11
*
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
98.5
8.6
9
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
+∞
8.5
8
*
ZXA10
NOMESCO Finland
Bilateral
4.6
8.3
32
95
WX404
NOMESCO Finland
Intravenous generell anesthesy
4.0
8.3
39
140
Q35.1
ICD-10 Finland
Cleft hard palate
36.9
8.3
10
*
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
36.9
8.3
10
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.8
8.2
44
176
H65.3
ICD-10 Finland
Chronic mucoid otitis media
6.2
8.1
22
44
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
5.4
8.0
25
59
EBA15
NOMESCO Finland
Extraction of large number of teeth
16.9
8.0
12
8
UDC00
NOMESCO Finland
Ear microscopy
6.8
7.9
20
36
XFE00
NOMESCO Finland
Epicardial ultrasonography
49.2
7.9
9
*
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
49.2
7.9
9
*
Z2221
NOMESCO Finland
Medical doctor
3.7
7.8
45
188
Q21.10
ICD-10 Finland
Persistent ostium secundum
15.0
7.6
12
9
ZXE20
NOMESCO Finland
More than three and less than five hours
4.6
7.5
27
75
ENC80
NOMESCO Finland
Plastic operation of soft palate for voice distubance
+∞
7.4
7
*
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
10.1
7.4
14
16
SAA04
NOMESCO Finland
Special inverstigation of mouth
5.0
7.3
24
60
201
Kela drug reimbursment
Chronic cardiac insufficiency
32.8
7.3
9
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
5.4
7.3
22
50
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
3.3
7.1
56
292
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
15.3
7.1
11
8
Z3229
NOMESCO Finland
Other healthcare associate professional
5.3
6.9
21
48
Z01.8
ICD-10 Finland
Other specified special examinations
3.8
6.9
32
112
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
24.6
6.8
9
*
R62.0
ICD-10 Finland
Delayed milestone
7.5
6.7
15
23
ZXE00
NOMESCO Finland
One hour or less
3.1
6.6
55
291
61
HP
Catheterization and pressure measurement of the left side of the heart
74.7
6.5
7
*
DAX08
NOMESCO Finland
Fitting of hearing aid
74.7
6.5
7
*
31
HP
Congenital heart failure surgery
74.7
6.5
7
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.4
6.4
19
42
WZB00
NOMESCO Finland
Telephone receipt or other advice
3.3
6.3
39
167
Q87.4
ICD-10 Finland
Marfan syndrome
+∞
6.3
6
*
Q87.00
ICD-10 Finland
Syndrome Treacher Collins
+∞
6.3
6
*
4364
FHL
Pharyngeal tongue plastic
+∞
6.3
6
*
62
HP
Catheterization and pressure measurement of the right side of the heart
+∞
6.3
6
*
SBB10
NOMESCO Finland
Teeth copy
3.6
6.2
30
107

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
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
27
98
3.36
6.21
3.1
5.0
ng/l
1900.1
847.5
0.30
20
84
(3023368) Bacteria identified in Blood by Culture
34
145
2.99
5.96
3.8
5.0
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
60
366
2.49
4.98
10.2
12.3
mmol/l
1.2
1.2
0.29
55
334
(3044640) Blood type and Crossmatch panel - Blood
43
228
2.50
4.80
2.3
2.9
—
—
—
0
0
(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation
30
135
2.71
4.65
8.0
7.6
mmol/l
2.4
1.3
0.92
25
91
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
8
8
10.69
4.60
3.6
7.4
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
38
196
2.47
4.44
10.2
6.5
inr
1.2
1.1
0.13
13
52
(3007853) Bacteria identified in Skin by Aerobe culture
27
118
2.73
4.41
2.7
1.5
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
23
94
2.85
4.24
2.4
2.5
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
40
218
2.35
4.09
2.0
3.2
mg/l
3.2
2.7
1.10
35
194
(3022313) Gas panel - Capillary blood
26
116
2.65
4.06
6.8
6.8
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
0
95
0.00
3.91
0.0
1.9
—
—
—
0
0
(3013512) EKG study
25
113
2.59
3.79
3.8
3.1
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
7
215
0.28
3.62
3.3
1.9
—
—
—
0
0
(1175426) CD3 cells/100 lymphocytes in Blood
9
17
5.68
3.60
3.7
3.7
%
53.9
64.6
—
9
17
(3000494) Fungus identified in Specimen by Culture
19
77
2.79
3.54
1.7
1.6
—
—
—
0
0
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
9
18
5.36
3.45
3.7
3.6
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
69
850
0.45
3.44
3.9
3.9
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
25
124
2.33
3.08
7.0
6.7
mmol/l
25.0
24.2
1.00
25
124
(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood
8
17
5.00
2.98
3.6
3.8
%
18.0
25.9
—
8
17
(3018418) pH of Serum or Plasma
31
171
2.15
2.97
6.7
3.4
ph
7.4
7.4
—
8
21
(3025271) CD3-CD16+CD56+ (Natural killer) cells [#/volume] in Blood
9
22
4.37
2.96
3.3
3.2
e9/l
0.4
0.2
—
9
16
(3001405) CD3+CD8+ (T8 suppressor) cells [#/volume] in Blood
9
22
4.37
2.96
3.3
3.2
e6/l
430.3
640.3
—
9
16
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
13
47
3.02
2.94
5.7
2.6
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
7
13
5.68
2.92
5.3
4.3
%
52.3
50.8
—
7
13
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
11
36
3.30
2.90
1.5
3.2
ml/min/173m2
76.7
73.6
—
6
10
(3013826) Glucose [Moles/volume] in Serum or Plasma
62
444
1.97
2.86
5.5
8.5
mmol/l
6.0
6.1
0.51
56
400
(3006245) CD3-CD19+ cells/100 cells in Blood
8
18
4.72
2.85
3.6
4.2
%
25.6
16.7
—
8
18
(3019225) pH of Specimen
11
38
3.12
2.67
2.6
6.7
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
31
179
2.04
2.61
2.0
2.9
—
—
—
0
0
(3002032) Base excess in Venous blood by calculation
26
144
2.07
2.43
3.4
10.3
mmol/l
1.8
1.3
0.76
19
107
(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
10
35
3.05
2.37
1.4
1.4
—
—
—
0
0
(3030905) Polymorphonuclear cells [#/volume] in Blood
6
13
4.82
2.30
4.8
4.2
e9/l
2.8
2.9
—
6
13
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
26
147
2.02
2.30
7.4
12.5
mmol/l
26.4
25.0
1.35
26
147
(3038515) Glucose [Moles/volume] in Venous blood
5
9
5.77
2.24
2.8
3.1
mmol/l
5.8
6.8
—
5
9
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
0
55
0.00
2.14
0.0
2.1
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
5
10
5.19
2.09
2.8
3.0
mmol/l
1.6
1.2
—
5
10
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
51
0.00
1.95
0.0
1.5
—
—
—
0
0
(3007080) Epstein Barr virus nuclear IgG Ab [Units/volume] in Serum
0
54
0.00
1.92
0.0
2.1
—
148.8
—
0
29
(3021901) Oxygen saturation in Capillary blood
6
17
3.68
1.86
5.5
2.8
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
49
358
1.69
1.86
7.8
8.9
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
49
0.00
1.74
0.0
1.4
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
49
0.00
1.74
0.0
1.4
—
—
—
0
0
(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection
5
13
3.98
1.73
1.6
1.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
47
346
1.65
1.70
4.0
4.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
20
318
0.54
1.67
2.1
2.0
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
29
192
1.71
1.54
2.8
2.7
—
—
—
0
0
(44790047)
5
15
3.44
1.54
2.4
2.1
—
—
—
0
0
(44790049)
5
15
3.44
1.54
2.4
2.1
—
—
—
0
0
(44790048)
5
15
3.44
1.54
2.4
2.1
—
—
—
0
0
(44806118)
5
15
3.44
1.54
2.4
2.1
—
—
—
0
0
(40758558) Short blood count panel - Blood
38
272
1.62
1.50
10.4
8.3
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
67
553
1.58
1.43
11.6
11.2
e9/l
3.4
3.8
1.01
62
466
(3002582) Erythrocytes [#/volume] in Urine
33
231
1.63
1.42
4.6
3.8
e6/l
17.4
29.4
0.47
28
180
(3021589) Normoblasts [#/volume] in Blood
58
466
1.55
1.37
11.9
10.6
e9/l
0.0
0.0
0.50
50
350
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
5
118
0.40
1.35
1.4
1.5
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
96
883
2.02
1.33
14.6
9.0
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
9
44
2.14
1.30
4.3
8.6
%
146.8
174.0
—
9
44
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
34
245
1.57
1.29
4.5
4.4
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
27
184
1.63
1.28
3.0
3.8
mmol/l
8.6
8.4
0.06
22
162
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
24
160
1.65
1.24
3.3
2.7
ng/l
13.8
19.3
0.56
17
74
(1616796) Gas panel - Central venous blood
5
19
2.71
1.23
2.6
3.9
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
7
30
2.43
1.15
3.4
5.5
%
60.9
58.4
—
7
30
(3018095) Leukocytes [#/volume] in Urine
37
280
1.50
1.11
5.1
4.6
e6/l
64.3
45.4
0.22
29
189
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
9
156
0.54
1.09
2.3
2.1
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
17
107
1.70
1.08
2.4
1.8
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
7
34
2.13
1.05
6.6
26.7
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
7
35
2.07
1.02
2.3
17.3
%
0.9
1.3
—
7
35
(3000991) Gas panel - Venous blood
20
134
1.61
1.01
6.2
10.1
—
—
—
0
0
(3019473) Protein [Mass/volume] in Cerebral spinal fluid
0
28
0.00
0.99
0.0
4.5
—
310.0
—
0
28
(3017143) Hepatitis C virus Ab [Presence] in Serum
9
151
0.56
0.98
1.8
1.5
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
26
187
1.52
0.98
6.1
3.6
estimate
0.0
0.0
0.00
12
66
(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma
9
51
1.84
0.97
2.0
3.5
pmol/l
5.0
4.9
—
9
45
(3019832) Treponema pallidum Ab [Presence] in Serum
14
214
0.60
0.96
1.9
1.7
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
15
95
1.68
0.93
2.9
3.6
mg/l
14.9
225.8
—
10
58
(3017732) Neutrophils [#/volume] in Blood
12
71
1.78
0.93
2.0
2.9
e9/l
4.7
4.0
0.57
12
64
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
10
56
1.87
0.91
5.0
8.1
%
86.3
93.8
—
10
56
(36304419) Bacteria [Presence] in Urine
29
217
1.46
0.90
4.4
3.6
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
27
352
0.69
0.89
1.6
1.9
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
9
149
0.57
0.87
1.0
1.5
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
12
73
1.73
0.86
2.4
1.6
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
12
74
1.70
0.82
2.1
1.6
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
6
33
1.87
0.80
3.0
2.3
—
—
—
0
0
(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting
0
25
0.00
0.80
0.0
2.0
—
0.7
—
0
20
(40761536) Microorganisms panel - Urine sediment
10
59
1.77
0.79
10.6
3.5
—
—
—
0
0
(3016543) Leukocytes [#/volume] in Cerebral spinal fluid
0
27
0.00
0.78
0.0
4.7
—
11.2
—
0
19
(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid
0
27
0.00
0.78
0.0
4.8
—
274.0
—
0
20
(3020682) Albumin/Creatinine [Ratio] in Urine
15
100
1.58
0.78
3.7
4.4
mg/mmol
2.3
34.5
—
9
62
(3025018) Bordetella pertussis Ab [Titer] in Serum
5
24
2.14
0.75
1.0
1.1
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
5
24
2.14
0.75
2.4
1.8
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
26
1.97
0.71
2.4
1.8
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
17
232
0.68
0.70
1.5
1.7
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
5
27
1.89
0.69
1.6
2.2
—
—
—
0
0
(3044889) 12 lead EKG panel
47
398
1.33
0.69
4.3
2.4
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
8
130
0.58
0.69
2.0
2.0
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
91
852
1.51
0.68
15.4
11.3
mg/l
28.1
22.6
0.62
78
592
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
25
192
1.40
0.68
1.5
1.7
pmol/l
97.9
98.9
0.04
15
98
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
5
28
1.82
0.67
1.6
2.3
—
—
—
0
0
(3036489) Thrombin time
8
53
1.55
0.60
4.8
7.5
s
23.4
21.9
—
8
47
(3020874) Milk IgE Ab [Units/volume] in Serum
0
22
0.00
0.60
0.0
1.5
—
3.2
—
0
16
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
32
261
1.33
0.60
4.5
4.0
u/l
32.3
31.2
0.11
32
249
(40760892) CBC W Ordered Manual Differential panel - Blood
24
187
1.37
0.60
5.4
5.0
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
0
23
0.00
0.59
0.0
5.5
—
—
—
0
0
(3014599) Egg white IgE Ab [Units/volume] in Serum
0
23
0.00
0.59
0.0
1.6
—
3.2
—
0
17
(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay
0
23
0.00
0.59
0.0
1.4
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
6
36
1.71
0.58
3.3
1.4
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
20
253
0.74
0.53
1.6
1.7
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
21
260
0.76
0.48
2.1
2.3
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
19
238
0.75
0.47
2.2
2.2
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
65
595
1.24
0.45
13.2
8.2
ml/min/173m2
107.8
102.5
1.03
49
451
(3041096) Erythrocytes [Presence] in Urine by Automated
24
196
1.29
0.44
7.2
2.9
—
—
—
0
0
(4268621)
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
31
264
1.25
0.41
6.3
3.3
—
—
—
0
0
(3015076) Soybean IgE Ab [Units/volume] in Serum
0
17
0.00
0.41
0.0
1.1
—
4.1
—
0
5
(3035933) Granulocytes/100 leukocytes in Blood
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
19
0.00
0.39
0.0
6.4
—
—
—
0
0
(3011897) Casein IgE Ab [Units/volume] in Serum
0
19
0.00
0.39
0.0
1.6
—
3.7
—
0
6
(3015736) pH of Urine
33
285
1.23
0.39
4.4
3.1
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
6
44
1.39
0.35
1.5
1.3
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
69
647
1.19
0.33
4.7
3.7
pmol/l
15.3
14.4
1.29
62
603
(3023511) Choriogonadotropin [Units/volume] in Urine
7
51
1.40
0.32
1.0
1.4
—
—
—
0
0
(3036481) Cortisol [Moles/volume] in Serum or Plasma
12
94
1.31
0.29
1.6
2.7
nmol/l
220.1
351.7
2.49
12
88
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
16
131
1.26
0.29
2.4
3.8
e6/l
3.6
2.2
0.43
11
78
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
58
620
0.86
0.29
4.4
2.7
mmol/l
5.7
5.6
0.41
53
568
(3035350) Ketones [Presence] in Urine by Test strip
40
362
1.17
0.28
5.7
3.4
estimate
0.0
0.0
0.00
13
61
(3000492) Spirometry study
5
73
0.67
0.27
2.0
1.4
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
14
168
0.81
0.25
4.2
3.1
kg/l
1.0
1.0
—
5
25
(3037467) Urinalysis macro (dipstick) panel - Urine
56
524
1.15
0.24
5.1
4.1
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
7
90
0.76
0.23
1.1
2.0
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
16
187
0.83
0.22
2.8
3.4
—
—
—
0
0
(3016845) Adenovirus Ag [Presence] in Specimen by Immunofluorescence
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
(3023420) DNA double strand Ab [Units/volume] in Serum
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
1.0
—
222.4
—
0
11
(3042299) inFLIXimab [Mass/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
10.5
—
7.8
—
0
11
(40768793) Breast Pathology biopsy report
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(3045142) Bone marrow Pathology biopsy report
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3013336) Amino acids [Identifier] in Serum or Plasma
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
3.5
—
—
—
0
0
(3027231) Wheat IgE Ab [Units/volume] in Serum
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
(4198724)
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
11
133
0.81
0.21
1.3
1.2
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
6
48
1.26
0.20
4.2
4.0
—
—
—
0
0
(3022621) pH of Urine by Test strip
6
48
1.26
0.20
1.3
2.1
—
—
—
0
0
(3016018) Differential panel - Cerebral spinal fluid
0
14
0.00
0.20
0.0
6.6
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
87
892
0.86
0.17
16.1
14.0
%
39.8
40.1
0.24
65
787
(3027945) Reticulocytes/100 erythrocytes in Blood
12
101
1.21
0.17
8.3
4.8
%
1.4
1.5
0.33
12
93
(3021601) Nitrite [Presence] in Urine by Test strip
39
364
1.11
0.16
7.2
4.8
estimate
0.0
0.0
0.00
11
66
(1761868) Lipid panel - Serum or Plasma
21
233
0.88
0.16
2.6
2.1
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
15
131
1.17
0.15
2.4
3.7
e6/l
0.6
0.5
—
10
79
(3009261) Glucose [Presence] in Urine by Test strip
39
366
1.10
0.14
5.7
3.4
estimate
0.0
0.0
0.00
12
63
(3026493) Urate [Moles/volume] in Serum or Plasma
11
128
0.84
0.14
2.8
5.1
umol/l
342.3
3726.2
0.49
11
120
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
29
310
0.91
0.12
1.7
1.6
u/ml
0.4
1.4
—
6
58
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
5
48
1.04
0.09
1.2
1.7
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
7
83
0.83
0.07
1.0
1.0
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
75
741
1.04
0.03
5.3
4.2
mu/l
2.2
1.9
1.18
70
705
(3007164) IgA [Mass/volume] in Serum or Plasma
30
292
1.04
0.02
2.0
1.6
g/l
1.9
1.8
0.13
19
160
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
55
553
0.99
0.00
4.5
3.6
mmol/mol
36.2
36.5
0.16
49
525
(3003694) ABO and Rh group [Type] in Blood
31
313
0.99
0.00
1.8
1.7
—
—
—
0
0
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
19
186
1.03
0.00
4.6
3.1
u/l
39.2
55.6
3.00
19
175
(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
9
0.00
0.00
0.0
3.3
—
—
—
0
0
(3043409) Potassium [Moles/volume] in Arterial blood
0
9
0.00
0.00
0.0
2.4
—
3.8
—
0
9
(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
5
57
0.87
0.00
1.6
1.4
—
—
—
0
0
(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3002256) Pathology report gross observation
7
74
0.94
0.00
1.1
1.1
—
—
—
0
0
(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3041672) Baker's yeast Ab [Presence] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3010464) Parainfluenza virus 1 Ag [Presence] in Specimen
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3022145) Colonoscopy Study observation
5
58
0.86
0.00
1.2
1.4
—
—
—
0
0
(44816893) Food Allergen Mix 50 (Kiwi+Pineapple+Banana+Mango) IgE Ab [Units/volume] in Serum by Multidisk
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3024932) HLA-DR beta [Type]
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3035999) Lactate [Moles/volume] in Cerebral spinal fluid
0
6
0.00
0.00
0.0
1.3
—
1.7
—
0
6
(3032352) Blasts [#/volume] in Cerebral spinal fluid
0
7
0.00
0.00
0.0
7.9
—
—
—
0
0
(3019083) Insulin-like growth factor [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
(3002621) Streptococcal DNAse B [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3024474) Albumin [Mass/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
222.2
—
0
5
(3001186) Copper [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
18.0
—
0
5
(3034426) Prothrombin time (PT)
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3016914) Bacteria identified in Cerebral spinal fluid by Culture
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3049233) Organic acids panel - Urine
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(4027681)
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
6.6
—
0
6
(3024471) HLA-A [Type]
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003752) BK virus DNA [Units/volume] (viral load) in Urine by NAA with probe detection
0
5
0.00
0.00
0.0
4.8
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3033882) Carnitine [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.1
—
35.6
—
0
7
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(42869858) Acute and chronic leukemia fusion transcript panel - Blood or Tissue by Molecular genetics method
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3023659) Complement C1 esterase inhibitor.functional/Complement C1 esterase inhibitor.total in Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
104.7
—
0
7
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
6
67
0.89
0.00
1.3
1.3
—
—
—
0
0
(3035320) C reactive protein [Mass/volume] in Body fluid
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3010015) Selenium [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.7
—
1.1
—
0
7
(3000012) Reticulocyte production index
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3035947) Staphylolysin Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3036071) Salmonella sp Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(21494434) Karyotype in Bone marrow
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018921) Toxoplasma gondii IgA Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3017115) Methotrexate [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
17.5
—
0.7
—
0
6
(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3005880) Parainfluenza virus 3 Ag [Presence] in Specimen
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003245) Complement C1 esterase inhibitor [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
0.3
—
0
7
(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection
0
8
0.00
0.00
0.0
5.0
—
—
—
0
0
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3026389) Candida sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
5
52
0.96
0.00
1.0
1.1
—
—
—
0
0
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
6
0.00
0.00
0.0
4.5
—
11.6
—
0
6
(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3000722) Carnitine free (C0) [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
2.1
—
26.7
—
0
7
(3021578) Parainfluenza virus 2 Ag [Presence] in Specimen
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(21491979) Prolactin monomeric [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
259.2
—
0
5
(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40760109) Toxoplasma gondii IgG Ab avidity [Ratio] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40768446) Kidney Pathology biopsy report
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3042733) HLA Ab [Presence] in Serum
0
7
0.00
0.00
0.0
2.9
—
—
—
0
0
(3032390) JC virus DNA [#/volume] (viral load) in Urine by NAA with probe detection
0
5
0.00
0.00
0.0
4.8
—
—
—
0
0
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3040893) Potassium [Moles/volume] in Capillary blood
0
5
0.00
0.00
0.0
1.6
—
4.4
—
0
5
(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3016031) Almond IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
3.4
—
0
5
(3019897) Erythrocyte distribution width [Ratio] by Automated count
0
6
0.00
0.00
0.0
1.0
—
12.7
—
0
6
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.7
—
14.4
—
0
8
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
3.0
—
1.5
—
0
6
(3026179) Normetanephrine [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.6
—
0.4
—
0
7
(3015183) Erythrocyte sedimentation rate
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3031309) Prolactin monomeric/Prolactin.total in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
72.4
—
0
5
(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded from FinRegistry analyses (omitted endpoint).

Relationships between endpoints

Index endpoint: Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1 – Congenital malformation syndromes predominantly affecting facial appearance

GWS hits: -

This endpoint is excluded from FinRegistry analyses (omitted endpoint).