This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Congenital malformation syndromes predominantly affecting facial appearance
Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1
No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
105 |
4. Check minimum number of eventsNone |
105 |
5. Include endpointsNone |
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
Similar endpoints
↥List of similar endpoints to
Congenital malformation syndromes predominantly affecting facial appearance
based on the number of shared cases.
Similar with more cases:
- Other specified congenital malformation syndromes affecting multiple systems
- Exclusion endpoint for clefts
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
None
Case counts by codes
↥
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
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
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
13.8
11.7
20
18
Q87.04
ICD-10 Finland
Syndrome Robin
+∞
11.7
11
*
Q87.03
ICD-10 Finland
Syndrome Goldenhar
+∞
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
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
49.2
7.9
9
*
XFE00
NOMESCO Finland
Epicardial ultrasonography
49.2
7.9
9
*
Q21.10
ICD-10 Finland
Persistent ostium secundum
15.0
7.6
12
9
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
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
31
HP
Congenital heart failure surgery
74.7
6.5
7
*
DAX08
NOMESCO Finland
Fitting of hearing aid
74.7
6.5
7
*
61
HP
Catheterization and pressure measurement of the left side of the heart
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
62
HP
Catheterization and pressure measurement of the right side of the heart
+∞
6.3
6
*
Q87.4
ICD-10 Finland
Marfan syndrome
+∞
6.3
6
*
4364
FHL
Pharyngeal tongue plastic
+∞
6.3
6
*
Q87.00
ICD-10 Finland
Syndrome Treacher Collins
+∞
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
cases
controls
unit
-log10(p)
N cases
N controls
27
98
3.36
6.21
3.1
5.0
1900.1
847.5
ng/l
0.30
20
84
60
366
2.49
4.98
10.2
12.3
1.2
1.2
mmol/l
0.29
55
334
30
135
2.71
4.65
8.0
7.6
2.4
1.3
mmol/l
0.92
25
91
40
218
2.35
4.09
2.0
3.2
3.2
2.7
mg/l
1.10
35
194
9
18
5.36
3.45
3.7
3.6
—
—
—
0
0
69
850
0.45
3.44
3.9
3.9
—
—
—
0
0
25
124
2.33
3.08
7.0
6.7
25.0
24.2
mmol/l
1.00
25
124
8
17
5.00
2.98
3.6
3.8
18.0
25.9
%
—
8
17
9
22
4.37
2.96
3.3
3.2
0.4
0.2
e9/l
—
9
16
9
22
4.37
2.96
3.3
3.2
430.3
640.3
e6/l
—
9
16
13
47
3.02
2.94
5.7
2.6
—
—
—
0
0
11
36
3.30
2.90
1.5
3.2
76.7
73.6
ml/min/173m2
—
6
10
62
444
1.97
2.86
5.5
8.5
6.0
6.1
mmol/l
0.51
56
400
31
179
2.04
2.61
2.0
2.9
—
—
—
0
0
26
144
2.07
2.43
3.4
10.3
1.8
1.3
mmol/l
0.76
19
107
10
35
3.05
2.37
1.4
1.4
—
—
—
0
0
26
147
2.02
2.30
7.4
12.5
26.4
25.0
mmol/l
1.35
26
147
0
55
0.00
2.14
0.0
2.1
—
—
—
0
0
0
54
0.00
1.92
0.0
2.1
—
148.8
—
0
29
5
13
3.98
1.73
1.6
1.3
—
—
—
0
0
47
346
1.65
1.70
4.0
4.7
—
—
—
0
0
67
553
1.58
1.43
11.6
11.2
3.4
3.8
e9/l
1.01
62
466
5
118
0.40
1.35
1.4
1.5
—
—
—
0
0
9
44
2.14
1.30
4.3
8.6
146.8
174.0
%
—
9
44
34
245
1.57
1.29
4.5
4.4
—
—
—
0
0
24
160
1.65
1.24
3.3
2.7
13.8
19.3
ng/l
0.56
17
74
7
30
2.43
1.15
3.4
5.5
60.9
58.4
%
—
7
30
9
156
0.54
1.09
2.3
2.1
—
—
—
0
0
17
107
1.70
1.08
2.4
1.8
—
—
—
0
0
7
35
2.07
1.02
2.3
17.3
0.9
1.3
%
—
7
35
26
187
1.52
0.98
6.1
3.6
0.0
0.0
estimate
0.00
12
66
9
51
1.84
0.97
2.0
3.5
5.0
4.9
pmol/l
—
9
45
10
56
1.87
0.91
5.0
8.1
86.3
93.8
%
—
10
56
27
352
0.69
0.89
1.6
1.9
—
—
—
0
0
9
149
0.57
0.87
1.0
1.5
—
—
—
0
0
12
73
1.73
0.86
2.4
1.6
—
—
—
0
0
12
74
1.70
0.82
2.1
1.6
—
—
—
0
0
5
24
2.14
0.75
2.4
1.8
—
—
—
0
0
5
26
1.97
0.71
2.4
1.8
—
—
—
0
0
5
27
1.89
0.69
1.6
2.2
—
—
—
0
0
8
130
0.58
0.69
2.0
2.0
—
—
—
0
0
91
852
1.51
0.68
15.4
11.3
28.1
22.6
mg/l
0.62
78
592
25
192
1.40
0.68
1.5
1.7
97.9
98.9
pmol/l
0.04
15
98
5
28
1.82
0.67
1.6
2.3
—
—
—
0
0
32
261
1.33
0.60
4.5
4.0
32.3
31.2
u/l
0.11
32
249
0
23
0.00
0.59
0.0
1.4
—
—
—
0
0
6
36
1.71
0.58
3.3
1.4
—
—
—
0
0
21
260
0.76
0.48
2.1
2.3
—
—
—
0
0
19
238
0.75
0.47
2.2
2.2
—
—
—
0
0
65
595
1.24
0.45
13.2
8.2
107.8
102.5
ml/min/173m2
1.03
49
451
31
264
1.25
0.41
6.3
3.3
—
—
—
0
0
6
44
1.39
0.35
1.5
1.3
—
—
—
0
0
69
647
1.19
0.33
4.7
3.7
15.3
14.4
pmol/l
1.29
62
603
12
94
1.31
0.29
1.6
2.7
220.1
351.7
nmol/l
2.49
12
88
16
131
1.26
0.29
2.4
3.8
3.6
2.2
e6/l
0.43
11
78
58
620
0.86
0.29
4.4
2.7
5.7
5.6
mmol/l
0.41
53
568
40
362
1.17
0.28
5.7
3.4
0.0
0.0
estimate
0.00
13
61
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
3.5
—
—
—
0
0
6
48
1.26
0.20
4.2
4.0
—
—
—
0
0
39
364
1.11
0.16
7.2
4.8
0.0
0.0
estimate
0.00
11
66
15
131
1.17
0.15
2.4
3.7
0.6
0.5
e6/l
—
10
79
39
366
1.10
0.14
5.7
3.4
0.0
0.0
estimate
0.00
12
63
11
128
0.84
0.14
2.8
5.1
342.3
3726.2
umol/l
0.49
11
120
29
310
0.91
0.12
1.7
1.6
0.4
1.4
u/ml
—
6
58
5
48
1.04
0.09
1.2
1.7
—
—
—
0
0
7
83
0.83
0.07
1.0
1.0
—
—
—
0
0
75
741
1.04
0.03
5.3
4.2
2.2
1.9
mu/l
1.18
70
705
55
553
0.99
0.00
4.5
3.6
36.2
36.5
mmol/mol
0.16
49
525
19
186
1.03
0.00
4.6
3.1
39.2
55.6
u/l
3.00
19
175
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
5
57
0.87
0.00
1.6
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
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
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
104.7
—
0
7
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
6
67
0.89
0.00
1.3
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
0.3
—
0
7
0
8
0.00
0.00
0.0
5.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
5
52
0.96
0.00
1.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
4.5
—
11.6
—
0
6
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
259.2
—
0
5
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
4.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
12.7
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
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).