No definition available.
Other congenital malformations of skull and face bones
Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES
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. |
126 |
4. Check minimum number of eventsNone |
126 |
5. Include endpointsNone |
126 |
6. Filter based on genotype QC (FinnGen only) |
126 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q6[5-9]|Q7
- Name in latin
- Aliae malformationes congenitae ossium cranii et faciei
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of skull and face bones
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3696 | 1272 | 2423 |
| Only index persons | 2224 | 749 | 1475 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.06 | 0.04 | 0.07 |
| Only index persons | 0.05 | 0.03 | 0.06 |
| Median age at first event (years) | |||
| Whole population | 0.83 | 0.91 | 0.77 |
| Only index persons | 1.25 | 1.40 | 1.18 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 126 | 67 | 59 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | 3.27 | 4.27 | 2.13 |
-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
- 112
- Matched controls
- 1119
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q75.3
ICD-10 Finland
Macrocephaly
+∞
40.0
36
*
Q75.00
ICD-10 Finland
Coronary craniosynostosis
+∞
28.3
26
*
AA6AD
NOMESCO Finland
Cranial bones CT examination
+∞
28.3
26
*
AAK30
NOMESCO Finland
Craniofacial reconstruction in congenital malformations
+∞
18.2
17
*
Q75.9
ICD-10 Finland
Congenital malformation of skull and face bones, unspecified
+∞
17.1
16
*
Q75.01
ICD-10 Finland
Sagittal craniosynostoos
+∞
17.1
16
*
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
39.6
14.0
17
5
QA9S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in head or neck, unspecified
145.6
12.7
13
*
ZXD10
NOMESCO Finland
Scheduled procedure
4.5
12.6
72
321
ZXE20
NOMESCO Finland
More than three and less than five hours
5.5
11.6
38
95
Q75.0
ICD-10 Finland
Craniosynostosis
+∞
9.5
9
*
Q75.88
ICD-10 Finland
Other specified congenital malformations of skull and face bones
+∞
9.5
9
*
Q75.1
ICD-10 Finland
Craniofacial dysostosis
+∞
9.5
9
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
+∞
8.4
8
*
Q67.3
ICD-10 Finland
Plagiocephaly
+∞
8.4
8
*
ZXE00
NOMESCO Finland
One hour or less
3.1
7.7
64
338
R62.0
ICD-10 Finland
Delayed milestone
5.4
7.4
22
48
AAK20
NOMESCO Finland
Operations for craniosynostosis
+∞
7.4
7
*
R4130
NOMESCO Finland
Speech therapy
6.7
7.3
18
31
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.6
6.9
24
62
ZXE40
NOMESCO Finland
More than seven and less than nine hours
8.7
6.9
14
18
F83
ICD-10 Finland
Mixed specific developmental disorders
7.0
6.8
16
26
Z01.8
ICD-10 Finland
Other specified special examinations
3.4
6.5
34
126
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.9
6.4
49
234
Q75.08
ICD-10 Finland
Other craniosynostosis
+∞
6.3
6
*
Z31.5
ICD-10 Finland
Genetic counselling
4.3
6.2
23
64
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
(3044640) Blood type and Crossmatch panel - Blood
49
268
2.36
4.92
2.4
3.6
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
42
224
2.31
4.40
1.9
3.6
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
76
551
1.96
3.29
5.5
10.7
mmol/l
6.5
5.9
0.56
71
503
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
56
381
1.85
2.82
3.6
4.9
—
—
—
0
0
(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation
43
272
1.88
2.70
5.7
10.7
mmol/l
0.5
1.2
0.90
33
195
(3009343) pH of Capillary blood
43
273
1.87
2.67
5.8
10.7
—
7.4
—
0
7
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
10
36
2.93
2.26
2.5
1.2
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
116
1034
2.54
2.19
9.7
8.8
—
—
—
0
0
(3019225) pH of Specimen
9
33
2.86
1.97
3.3
5.1
—
—
—
0
0
(3022313) Gas panel - Capillary blood
38
253
1.72
1.95
5.8
10.0
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
34
220
1.75
1.92
4.6
6.0
inr
1.0
1.2
—
8
58
(3026008) Bacteria identified in Urine by Culture
35
229
1.73
1.90
2.4
2.6
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
114
1027
2.16
1.78
9.8
12.8
mg/l
19.3
22.4
0.53
82
718
(46235355) HIV 1 and 2 tests - Meaningful Use set
18
304
0.52
1.77
2.1
2.1
—
—
—
0
0
(4035726)
12
58
2.18
1.55
1.2
2.1
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
87
740
1.57
1.51
4.2
3.4
pmol/l
14.3
14.6
0.48
77
678
(3003694) ABO and Rh group [Type] in Blood
46
343
1.54
1.46
1.5
1.6
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
14
240
0.53
1.42
2.7
2.2
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
27
178
1.66
1.41
4.1
5.4
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
7
29
2.49
1.41
2.0
1.5
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
97
856
1.58
1.33
4.6
3.8
mu/l
2.2
2.0
0.55
88
800
(3009214) Lutropin [Units/volume] in Serum or Plasma
15
85
1.87
1.29
2.1
2.5
u/l
5.3
5.9
—
9
59
(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma
6
25
2.47
1.26
2.0
2.6
u/ml
52.2
74.5
—
6
25
(4034850)
5
19
2.70
1.22
12.0
5.8
—
—
—
0
0
(40761872) Peanut recombinant (rAra h) 2 IgE Ab [Units/volume] in Serum
0
34
0.00
1.18
0.0
1.4
—
52.8
—
0
27
(3011897) Casein IgE Ab [Units/volume] in Serum
0
34
0.00
1.18
0.0
1.8
—
8.0
—
0
9
(3003396) Base excess in Arterial blood by calculation
13
73
1.87
1.16
4.5
24.8
mmol/l
1.6
1.1
—
7
63
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
17
259
0.60
1.12
2.6
2.4
—
—
—
0
0
(3008152) Bicarbonate [Moles/volume] in Arterial blood
7
31
2.33
1.12
2.6
19.5
mmol/l
25.8
24.9
—
7
31
(3000330) Specific gravity of Urine by Test strip
7
34
2.12
1.04
1.6
1.7
—
—
—
0
0
(3014051) Protein [Presence] in Urine by Test strip
5
22
2.32
1.04
1.6
1.7
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
27
192
1.52
1.04
1.2
1.6
pmol/l
104.1
93.7
0.57
13
91
(3001019) Free T4 and TSH panel - Serum or Plasma
7
35
2.06
1.01
1.7
1.4
—
—
—
0
0
(3002173) Hemoglobin [Mass/volume] in Arterial blood
9
49
1.90
1.01
3.7
26.3
g/l
128.8
127.0
—
9
49
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
29
0.00
0.99
0.0
1.4
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
31
0.00
0.98
0.0
1.2
—
—
—
0
0
(3016502) Oxygen saturation in Arterial blood
11
62
1.85
0.97
4.7
28.8
%
94.8
93.2
0.17
11
62
(3045462) Protein/Creatinine [Ratio] in Urine
0
32
0.00
0.96
0.0
9.3
—
124.5
—
0
25
(3023323) Follitropin [Units/volume] in Serum or Plasma
12
71
1.76
0.92
2.3
2.7
iu/l
3.7
8.9
—
7
50
(3019060) Gas panel - Arterial blood
6
29
2.12
0.90
2.0
19.3
—
—
—
0
0
(3002032) Base excess in Venous blood by calculation
31
234
1.43
0.89
4.3
11.8
mmol/l
1.4
1.0
0.45
24
168
(3002256) Pathology report gross observation
11
64
1.79
0.89
1.1
1.1
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
45
367
1.35
0.82
6.6
9.7
umol/l
36.1
33.4
0.10
38
344
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
34
266
1.38
0.80
7.0
16.5
mmol/l
24.4
24.4
0.01
34
266
(40768443) Skin Pathology biopsy report
6
33
1.86
0.80
1.2
1.2
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
55
638
0.76
0.79
9.4
11.7
e9/l
0.0
0.0
0.00
42
472
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
17
116
1.54
0.79
2.1
9.9
ng/l
955.9
1035.8
—
9
99
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
66
573
1.32
0.78
3.9
3.7
mmol/mol
35.5
37.0
0.92
61
531
(3019832) Treponema pallidum Ab [Presence] in Serum
14
205
0.64
0.78
2.0
1.7
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
23
170
1.43
0.74
3.5
5.8
mg/l
0.7
2.4
0.88
18
132
(3029937) Albumin [Presence] in Urine by Test strip
26
197
1.40
0.74
2.1
3.6
estimate
0.0
0.0
—
5
65
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
18
244
0.69
0.69
1.6
1.8
—
—
—
0
0
(3000991) Gas panel - Venous blood
28
218
1.37
0.68
5.6
14.8
—
—
—
0
0
(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
102
955
1.36
0.63
7.5
9.8
u/l
26.7
27.2
0.10
96
922
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
7
113
0.60
0.61
1.3
1.5
—
—
—
0
0
(3028707) Methadone [Presence] in Urine by Screen method
8
52
1.57
0.61
2.3
2.3
—
—
—
0
0
(3020717) Zinc [Moles/volume] in Serum or Plasma
0
21
0.00
0.60
0.0
2.7
—
11.6
—
0
21
(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma
0
22
0.00
0.60
0.0
4.2
—
27.0
—
0
22
(3027231) Wheat IgE Ab [Units/volume] in Serum
0
23
0.00
0.59
0.0
1.3
—
—
—
0
0
(3022217) INR in Platelet poor plasma by Coagulation assay
6
36
1.70
0.57
1.3
13.7
—
1.2
—
0
8
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
6
38
1.61
0.55
5.0
43.8
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
14
100
1.45
0.54
2.9
2.8
—
—
—
0
0
(3013512) EKG study
15
110
1.41
0.51
3.8
3.0
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
12
85
1.46
0.49
2.0
2.0
—
—
—
0
0
(3005719) IgG [Mass/volume] in Serum or Plasma
8
119
0.65
0.48
3.5
4.2
g/l
10.5
8.7
—
8
114
(3000963) Hemoglobin [Mass/volume] in Blood
121
1179
1.66
0.47
17.4
18.6
g/l
130.8
133.1
0.95
121
1169
(3024731) MCV [Entitic volume]
121
1178
1.68
0.47
17.1
18.1
fl
86.2
86.4
0.15
121
1168
(3035941) MCH [Entitic mass]
121
1178
1.68
0.47
17.1
18.1
pg
28.9
29.1
0.49
121
1167
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
5
83
0.59
0.47
1.2
1.2
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
7
49
1.45
0.47
3.3
4.3
—
—
—
0
0
(3022621) pH of Urine by Test strip
7
50
1.42
0.46
1.6
2.0
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
111
1066
1.35
0.44
13.8
17.5
%
39.1
39.1
0.06
100
948
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
19
150
1.31
0.43
2.9
3.3
ng/l
9.0
18.4
—
10
69
(40760892) CBC W Ordered Manual Differential panel - Blood
24
196
1.28
0.43
5.0
5.7
—
—
—
0
0
(3000492) Spirometry study
10
70
1.47
0.43
1.1
1.4
—
—
—
0
0
(3010015) Selenium [Moles/volume] in Serum or Plasma
0
15
0.00
0.41
0.0
2.5
—
1.0
—
0
15
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
15
0.00
0.41
0.0
1.1
—
77.3
—
0
15
(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum
0
15
0.00
0.41
0.0
3.5
—
—
—
0
0
(40768446) Kidney Pathology biopsy report
0
15
0.00
0.41
0.0
2.2
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
0
16
0.00
0.41
0.0
1.6
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
11
80
1.41
0.40
1.0
1.5
—
—
—
0
0
(3000093) Morphology [Interpretation] in Blood Narrative
0
19
0.00
0.39
0.0
1.1
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
0
19
0.00
0.39
0.0
1.8
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
8
114
0.68
0.39
1.6
1.2
—
26.4
—
0
23
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
12
90
1.37
0.37
5.6
15.0
%
84.4
86.4
0.09
12
90
(42870588) Differential panel, method unspecified - Blood
54
490
1.18
0.36
7.2
11.1
—
—
—
0
0
(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay
6
44
1.38
0.35
1.0
1.2
—
25.4
—
0
5
(3024561) Albumin [Mass/volume] in Serum or Plasma
36
316
1.19
0.34
6.2
9.8
g/l
36.9
37.1
0.05
36
304
(3021879) Hepatitis B virus core Ab [Presence] in Serum
6
88
0.67
0.34
1.3
1.5
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
6
45
1.35
0.34
1.5
1.8
—
—
—
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)
60
553
1.16
0.32
8.8
7.6
ml/min/173m2
108.0
103.1
0.80
44
386
(1761868) Lipid panel - Serum or Plasma
17
206
0.80
0.32
1.9
1.9
—
—
—
0
0
(3006504) Eosinophils/100 leukocytes in Blood
67
623
1.16
0.32
6.8
10.5
%
3.9
3.2
1.02
61
596
(36660697) Celiac disease serology panel - Serum
24
204
1.22
0.31
1.2
1.2
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
7
53
1.34
0.31
1.1
2.1
—
—
—
0
0
(3022145) Colonoscopy Study observation
7
54
1.31
0.31
1.1
1.6
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
17
140
1.25
0.29
1.6
2.3
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
42
380
1.16
0.28
4.2
3.4
nmol/l
66.4
70.6
0.76
42
353
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
11
86
1.31
0.27
1.5
1.4
pmol/l
627273128.9
470.5
0.47
11
76
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
5
72
0.68
0.27
1.2
1.3
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
13
159
0.80
0.26
1.2
1.6
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
12
96
1.28
0.25
2.0
1.9
—
—
—
0
0
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
46
499
0.88
0.25
4.3
4.7
u/l
47.9
30.1
0.84
41
482
(3011288) Drugs identified in Urine by Screen method
9
77
1.18
0.25
3.0
2.1
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
6
83
0.71
0.25
3.3
2.0
—
—
—
0
0
(3019069) Monocytes/100 leukocytes in Blood
67
631
1.13
0.24
6.9
10.7
%
8.2
8.3
0.15
61
607
(3019150) Specific gravity of Urine by Refractometry
23
200
1.18
0.24
2.1
2.7
kg/l
1.0
1.0
—
6
46
(40758558) Short blood count panel - Blood
43
394
1.14
0.24
7.2
10.2
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
17
144
1.21
0.23
1.7
1.7
—
—
—
0
0
(40761535) Cells panel - Urine sediment
5
39
1.29
0.23
1.6
3.6
—
—
—
0
0
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
5
39
1.29
0.23
2.0
21.7
%
0.6
0.7
—
5
39
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
18
154
1.20
0.22
1.8
2.1
—
—
—
0
0
(3015736) pH of Urine
31
343
0.87
0.22
2.5
3.2
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
60
636
0.89
0.22
3.7
4.2
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
66
624
1.12
0.22
3.6
2.9
mmol/l
5.8
5.6
0.48
59
572
(3003752) BK virus DNA [Units/volume] (viral load) in Urine by NAA with probe detection
0
11
0.00
0.21
0.0
5.5
—
—
—
0
0
(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
(3036071) Salmonella sp Ab [Titer] in Serum
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3013290) Carbon dioxide [Partial pressure] in Blood
0
11
0.00
0.21
0.0
10.0
—
4.6
—
0
11
(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
(3032390) JC virus DNA [#/volume] (viral load) in Urine by NAA with probe detection
0
11
0.00
0.21
0.0
5.5
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
11
0.00
0.21
0.0
3.5
—
—
—
0
0
(3003101) Alpha 1 antitrypsin [Mass/mass] in Stool
0
11
0.00
0.21
0.0
2.7
—
92.0
—
0
11
(3027315) Oxygen [Partial pressure] in Blood
0
11
0.00
0.21
0.0
10.0
—
9.1
—
0
11
(3023419) Bacteria identified in Sputum by Culture
0
10
0.00
0.21
0.0
9.4
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(40761873) Peanut recombinant (rAra h) 1 IgE Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.1
—
38.7
—
0
5
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3033882) Carnitine [Moles/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
2.1
—
35.3
—
0
10
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
(3016273) Islet cell 512 Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
(3000504) BK virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
0
13
0.00
0.21
0.0
6.5
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
6
49
1.24
0.20
2.7
2.6
—
—
—
0
0
(3039162) Centromere protein B Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3016031) Almond IgE Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.2
—
2.6
—
0
14
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
31
281
1.14
0.20
1.9
3.1
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
67
637
1.11
0.19
6.9
10.3
e9/l
0.0
0.0
0.13
51
528
(3027944) Amphetamines [Presence] in Urine
12
100
1.22
0.19
1.5
1.9
—
—
—
0
0
(3018010) Neutrophils/100 leukocytes in Blood
68
648
1.11
0.19
6.5
10.1
%
50.1
49.4
0.15
62
625
(3044889) 12 lead EKG panel
45
420
1.11
0.18
3.0
2.4
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
69
659
1.10
0.18
6.7
10.2
%
33.9
35.9
0.66
63
636
(3001604) Monocytes [#/volume] in Blood
67
639
1.10
0.18
6.9
10.3
e9/l
0.5
0.6
1.61
52
529
(3011397) Hemoglobin [Presence] in Urine by Test strip
28
254
1.13
0.18
2.4
3.5
—
—
—
0
0
(3035637) Corticotropin [Mass/volume] in Plasma
7
61
1.16
0.18
1.3
1.6
—
—
—
0
0
(3013115) Eosinophils [#/volume] in Blood
69
660
1.10
0.17
7.7
11.5
e9/l
0.2
0.2
0.41
57
560
(3019198) Lymphocytes [#/volume] in Blood
69
661
1.10
0.16
6.8
10.2
e9/l
2.2
2.5
2.16
55
567
(21494755) Public health laboratory ask at order entry panel
8
72
1.12
0.16
1.6
1.2
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
10
119
0.83
0.16
1.0
1.2
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
6
78
0.76
0.16
1.0
1.4
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
12
102
1.20
0.16
2.0
1.9
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
12
102
1.20
0.16
2.0
1.9
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
12
102
1.20
0.16
2.0
1.9
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
9
82
1.10
0.15
2.3
1.3
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
72
694
1.09
0.14
9.4
12.5
e9/l
3.4
3.7
0.83
59
582
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
15
132
1.15
0.14
2.3
5.2
ng/l
1040.1
748.1
—
10
84
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
13
113
1.17
0.13
1.6
2.2
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
23
210
1.12
0.13
2.4
4.0
e6/l
3.1
0.6
0.66
13
132
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
23
212
1.10
0.11
2.5
3.9
e6/l
1.8
1.6
0.09
13
134
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
102
1002
1.09
0.10
3.6
4.0
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
12
135
0.88
0.10
1.0
1.1
—
—
—
0
0
(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
43
1.17
0.10
1.6
2.0
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
5
43
1.17
0.10
3.6
5.6
—
—
—
0
0
(3014218) Bicarbonate [Moles/volume] standard in Arterial blood
5
44
1.14
0.10
7.6
28.0
mmol/l
24.0
24.7
—
5
44
(3014007) Fractional oxyhemoglobin in Arterial blood
5
44
1.14
0.10
7.6
28.1
%
97.9
94.9
—
5
44
(3015377) Calcium [Moles/volume] in Serum or Plasma
23
247
0.92
0.09
3.2
3.1
mmol/l
2.4
2.4
0.23
17
228
(3022096) Basophils/100 leukocytes in Blood
63
610
1.07
0.09
7.2
10.7
%
0.6
0.6
0.07
56
586
(3018095) Leukocytes [#/volume] in Urine
39
409
0.93
0.09
3.9
5.1
e6/l
68.7
51.8
0.18
29
283
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
5
47
1.07
0.09
7.6
26.4
%
1.0
1.3
—
5
47
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
5
48
1.04
0.09
7.6
25.9
%
0.9
0.7
—
5
48
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
5
64
0.77
0.08
1.2
1.5
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
6
70
0.85
0.08
1.0
1.4
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
6
70
0.85
0.08
1.2
1.6
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
8
74
1.09
0.07
1.5
1.4
—
—
—
0
0
(3024891) Influenza virus A+B Ag [Presence] in Specimen
8
75
1.07
0.07
1.5
1.4
—
—
—
0
0
(3006598) pH of Arterial cord blood
8
76
1.06
0.07
1.0
1.0
—
—
—
0
0
(3004959) Base excess in Arterial cord blood by calculation
8
76
1.06
0.07
1.0
1.0
—
-1.7
—
0
13
(3000494) Fungus identified in Specimen by Culture
8
93
0.85
0.07
1.9
2.2
—
—
—
0
0
(3031040) Bacteria [#/volume] in Urine by Automated count
61
594
1.05
0.07
4.2
4.1
—
37.8
—
0
8
(3041096) Erythrocytes [Presence] in Urine by Automated
21
197
1.08
0.06
2.0
2.7
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
44
426
1.05
0.06
3.5
5.1
estimate
0.0
0.0
—
6
67
(3048689) Calprotectin [Mass/mass] in Stool
22
232
0.94
0.05
1.5
3.0
ug/g
78.9
90.3
0.11
15
188
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
38
368
1.05
0.04
3.3
4.4
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
42
432
0.96
0.04
1.3
1.7
g/l
1.7
1.6
0.04
15
205
(3013707) Erythrocyte sedimentation rate by Westergren method
67
658
1.04
0.04
3.0
4.8
mm/h
8.4
8.6
0.07
62
617
(36304419) Bacteria [Presence] in Urine
32
331
0.96
0.04
3.3
4.3
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
44
430
1.04
0.03
2.7
3.5
estimate
0.0
0.0
—
6
63
(3035350) Ketones [Presence] in Urine by Test strip
44
431
1.03
0.02
2.7
3.4
estimate
0.0
0.0
—
6
63
(40768804) Tissue Pathology biopsy report
25
242
1.04
0.02
1.6
1.8
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
12
113
1.07
0.02
1.7
2.1
—
—
—
0
0
(3037522) Nuclear Ab [Titer] in Serum
12
113
1.07
0.02
1.3
1.5
—
360.0
—
0
16
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
14
133
1.06
0.01
1.9
1.9
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
13
126
1.04
0.00
1.2
1.4
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
11
111
0.99
0.00
1.3
1.2
u/ml
1.6
9.3
—
5
41
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
30
302
0.99
0.00
2.2
1.9
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
35
352
0.99
0.00
3.2
4.3
e6/l
96.0
37.3
0.36
29
275
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
45
448
1.01
0.00
1.6
1.7
u/ml
9.6
2.3
—
7
62
(3030467) Casts [#/volume] in Urine by Automated count
33
325
1.02
0.00
3.3
4.4
e6/l
0.4
0.3
0.48
26
251
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
46
455
1.02
0.00
1.8
1.9
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
6
63
0.95
0.00
3.8
4.0
—
—
—
0
0
(21494262) English walnut recombinant (rJug r) 3 IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
2.5
—
0
6
(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
2050.3
—
0
7
(3008860) Bordetella pertussis IgM Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3021788) Differential panel - Synovial fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection
0
8
0.00
0.00
0.0
1.7
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3042631) Mycobacterium sp identified in Specimen
0
6
0.00
0.00
0.0
13.7
—
—
—
0
0
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3045788) Cell count panel - Pleural fluid
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3008536) Aspergillus sp Ab [Presence] in Serum
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3005570) Glucose [Moles/volume] in Urine
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3001820) Epstein Barr virus nuclear Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3042585) Pyridoxine [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
57.5
—
0
5
(723474) SARS-CoV-2 (COVID-19) IgG Ab [Presence] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3049717) Cytology report of Urine Cyto stain
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3013247) Albumin in CSF/Albumin in Serum or Plasma
0
8
0.00
0.00
0.0
1.0
—
4.6
—
0
8
(3040893) Potassium [Moles/volume] in Capillary blood
0
5
0.00
0.00
0.0
2.4
—
4.2
—
0
5
(723473) SARS-CoV-2 (COVID-19) IgA Ab [Presence] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012441) Differential panel - Pleural fluid
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3018301) Testosterone Free [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
3.0
—
—
—
0
0
(3016724) Homocysteine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
7.8
—
0
6
(3023420) DNA double strand Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(40768795) Lymph node Pathology biopsy report
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3001186) Copper [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.7
—
21.8
—
0
7
(3002619) Bacteria identified in Specimen by Culture
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
(3033306) Mononuclear cells/100 leukocytes in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000012) Reticulocyte production index
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(4211845)
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3032185) JC virus DNA [#/volume] (viral load) in Serum or Plasma by NAA with probe detection
0
7
0.00
0.00
0.0
8.7
—
—
—
0
0
(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3006442) Creatine [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3006462) Nitrate [Presence] in Urine
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
5
49
1.02
0.00
1.2
1.2
—
—
—
0
0
(3006576) Bicarbonate [Moles/volume] in Blood
0
5
0.00
0.00
0.0
13.0
—
23.6
—
0
5
(3009871) Measles virus Ab [Titer] in Serum
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
2.0
—
679.9
—
0
8
(3041082) Glomerular basement membrane Ab [Titer] in Serum by Immunofluorescence
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
5
50
1.00
0.00
1.2
1.3
—
—
—
0
0
(3003327) Ova and parasites identified in Stool by Light microscopy
7
71
0.99
0.00
1.3
1.7
—
—
—
0
0
(3019083) Insulin-like growth factor [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3023659) Complement C1 esterase inhibitor.functional/Complement C1 esterase inhibitor.total in Serum or Plasma
0
8
0.00
0.00
0.0
1.4
—
104.3
—
0
8
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
2.8
—
2.3
—
0
6
(40759040) C peptide [Moles/volume] in Serum or Plasma --post meal
0
5
0.00
0.00
0.0
1.2
—
1.1
—
0
5
(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3014373) Corynebacterium diphtheriae Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(1001833) Epstein Barr virus DNA [Units/volume] (viral load) in Blood by NAA with probe detection
0
5
0.00
0.00
0.0
8.8
—
—
—
0
0
(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.6
—
3.0
—
0
7
(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
(40765096) Chromosome analysis panel by Banding
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES – Other congenital malformations of skull and face bones
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
Loading data