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
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
108 |
4. Check minimum number of eventsNone |
108 |
5. Include endpointsNone |
108 |
6. Filter based on genotype QC (FinnGen only) |
100 |
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
- Other congenital malformations, including avohilmo
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 | 100 | 56 | 44 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 11.49 | 14.08 | 8.19 |
-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
↥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
- 107
- Matched controls
- 1070
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
+∞
58.9
51
*
Z31.5
ICD-10 Finland
Genetic counselling
12.2
34.2
44
58
Z01.1
ICD-10 Finland
Examination of ears and hearing
9.3
30.3
55
109
Q87.06
ICD-10 Finland
Velocardiofacial syndrome
+∞
27.2
25
*
ZXE10
NOMESCO Finland
More than one and less than three hours
7.2
23.3
67
203
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
10.4
20.6
26
32
WX408
NOMESCO Finland
General anesthesy, balanced
5.6
17.9
56
175
ZXD10
NOMESCO Finland
Scheduled procedure
5.5
17.2
68
256
DFF00
NOMESCO Finland
Pure tone audiometry
8.1
16.2
25
39
Q87.03
ICD-10 Finland
Syndrome Goldenhar
+∞
16.0
15
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
93.3
15.0
16
*
UDC00
NOMESCO Finland
Ear microscopy
7.9
14.8
23
36
Z01.0
ICD-10 Finland
Examination of eyes and vision
5.0
14.4
44
131
Q87.0
ICD-10 Finland
Congenital malformation syndromes predominantly affecting facial appearance
+∞
13.8
13
*
ZXE20
NOMESCO Finland
More than three and less than five hours
6.0
13.8
29
62
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
6.2
13.8
28
58
Z2221
NOMESCO Finland
Medical doctor
4.4
13.2
54
200
Q87.04
ICD-10 Finland
Syndrome Robin
+∞
12.8
12
*
Q35.1
ICD-10 Finland
Cleft hard palate
146.5
12.7
13
*
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
5.4
12.2
29
69
SAA04
NOMESCO Finland
Special examination of mouth
5.5
12.1
28
65
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
23.2
11.5
16
8
Z3229
NOMESCO Finland
Other healthcare associate professional
5.6
11.4
25
55
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
5.3
11.3
27
64
H65.3
ICD-10 Finland
Chronic mucoid otitis media
5.1
11.2
28
69
WX404
NOMESCO Finland
Intravenous generell anesthesy
4.1
11.0
44
157
D82.1
ICD-10 Finland
Di George syndrome
+∞
10.6
10
*
Z01.8
ICD-10 Finland
Other specified special examinations
4.1
10.5
39
131
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
44.5
10.2
12
*
ZXA10
NOMESCO Finland
Bilateral
4.2
10.2
35
111
F83
ICD-10 Finland
Mixed specific developmental disorders
10.0
10.1
20
24
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
5.4
9.8
22
49
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
4.3
9.8
31
92
ZXE00
NOMESCO Finland
One hour or less
3.4
8.9
62
308
ZXA05
NOMESCO Finland
Left side
4.2
8.8
28
83
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.8
8.8
34
116
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
14.4
8.7
14
11
EBA15
NOMESCO Finland
Extraction of multiple teeth
12.2
8.6
15
14
XFE00
NOMESCO Finland
Epicardial ultrasonography
97.4
8.5
9
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
97.4
8.5
9
*
Q35.71
ICD-10 Finland
Submucous cleft palate
97.4
8.5
9
*
H52.2
ICD-10 Finland
Astigmatism
8.4
8.4
18
25
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.2
8.1
53
250
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.1
8.0
26
78
H72.0
ICD-10 Finland
Central perforation of tympanic membrane
13.2
7.8
13
11
DAX08
NOMESCO Finland
Fitting of hearing aid
20.2
7.8
11
6
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
7.8
27
85
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
3.2
7.6
69
389
G47.3
ICD-10 Finland
Sleep apnoea
3.9
7.6
26
81
Z2446
NOMESCO Finland
Social worker
3.8
7.6
28
92
31
HP
Congenital heart failure surgery
85.8
7.5
8
*
61
HP
Catheterization and pressure measurement of the left side of the heart
+∞
7.4
7
*
Q87.00
ICD-10 Finland
Syndrome Treacher Collins
+∞
7.4
7
*
ENC80
NOMESCO Finland
Plastic operation of soft palate for voice distubance
+∞
7.4
7
*
WX002
NOMESCO Finland
Sedation and analgesia
4.1
7.3
23
67
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
13.3
7.3
12
10
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
21.8
7.3
10
5
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
21.8
7.3
10
5
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
21.8
7.3
10
5
Q21.10
ICD-10 Finland
Persistent ostium secundum
10.4
7.0
13
14
Z96.1
ICD-10 Finland
Presence of intraocular lens
11.1
6.7
12
12
EHC30
NOMESCO Finland
Reconstruction of palate
74.1
6.5
7
*
C01AA05
ATC
digoxin; systemic
74.1
6.5
7
*
Q35.9
ICD-10 Finland
Cleft palate, unspecified
74.1
6.5
7
*
Q17.2
ICD-10 Finland
Microtia
74.1
6.5
7
*
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
28.5
6.3
8
*
Q87.4
ICD-10 Finland
Marfan syndrome
+∞
6.3
6
*
R49.2
ICD-10 Finland
Hypernasality and hyponasality
+∞
6.3
6
*
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
6.3
6
*
Q35.3
ICD-10 Finland
Cleft soft palate
+∞
6.3
6
*
Q16.1
ICD-10 Finland
Congenital absence, atresia and stricture of auditory canal (external)
+∞
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
*
SJA04
NOMESCO Finland
Very demanding workplan for orthodontic treatment
+∞
6.3
6
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.9
6.2
20
59
R62.0
ICD-10 Finland
Delayed milestone
6.1
6.1
16
30
K00.40
ICD-10 Finland
Postnatal enamel hypoplasia
6.5
6.1
15
26
114
Kela drug reimbursment
Glaucoma
16.2
6.0
9
6
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
32
114
3.58
7.69
3.8
5.3
1695.75
1029.53
ng/l
0.21
24
99
31
141
2.69
4.70
8.5
7.7
2.53
1.12
mmol/l
1.32
26
99
8
10
8.53
4.14
4.5
7.5
6.95
4.40
pmol/l
—
8
10
44
260
2.18
3.62
2.2
3.2
2.99
2.51
mg/l
0.94
39
232
71
868
0.46
3.33
4.0
3.9
—
—
—
0
0
9
20
4.81
3.19
4.4
4.6
19.33
9.20
%
—
9
20
9
21
4.58
3.07
4.4
4.4
—
—
—
0
0
25
129
2.22
2.80
7.6
6.8
24.98
24.18
mmol/l
1.02
25
129
12
44
2.95
2.64
1.8
3.4
71.00
73.75
ml/min/173m2
—
7
12
7
15
4.91
2.64
3.1
2.4
0.96
0.80
e9/l
—
7
15
9
25
3.83
2.64
4.0
3.9
424.44
215.19
e6/l
—
9
16
6
11
5.70
2.58
2.0
3.9
6.55
3.99
ug/l
—
6
11
9
26
3.68
2.55
4.0
3.7
430.33
640.25
e6/l
—
9
16
13
53
2.65
2.38
5.8
2.6
—
—
—
0
0
6
13
4.82
2.30
1.5
1.3
—
—
—
0
0
7
18
4.08
2.29
1.0
1.3
—
—
—
0
0
33
203
1.90
2.29
2.5
3.2
—
—
—
0
0
11
41
2.87
2.28
1.5
1.4
—
—
—
0
0
31
188
1.91
2.24
3.2
2.7
14.05
18.57
ng/l
0.57
20
92
5
9
5.76
2.24
1.2
1.0
109.20
118.78
pmol/l
—
5
9
12
50
2.58
2.11
4.6
8.2
163.58
183.50
%
0.42
12
50
51
375
1.69
1.89
3.1
3.5
—
—
estimate
—
0
0
27
165
1.85
1.88
5.7
11.4
2.61
1.24
mmol/l
1.66
22
132
27
167
1.82
1.81
19.4
15.7
26.59
25.16
mmol/l
1.46
27
167
6
18
3.47
1.77
1.2
1.1
—
—
—
0
0
8
30
2.80
1.76
2.1
1.7
—
—
—
0
0
40
280
1.68
1.75
4.8
4.6
—
—
—
0
0
73
598
1.69
1.73
12.7
12.7
3.42
3.80
e9/l
1.01
65
503
8
33
2.54
1.57
2.1
1.6
—
—
—
0
0
35
243
1.65
1.56
4.6
4.0
0.24
0.16
e6/l
0.40
28
178
5
123
0.38
1.48
1.4
1.6
784.00
956.81
mu/l
—
5
105
5
16
3.22
1.45
1.6
1.7
—
—
—
0
0
20
121
1.80
1.43
2.4
1.8
—
—
—
0
0
12
61
2.09
1.39
5.6
7.9
94.42
96.62
%
0.12
12
61
78
674
1.58
1.27
14.9
10.0
106.32
101.67
ml/min/173m2
1.00
65
578
5
19
2.71
1.23
2.6
1.6
—
—
—
0
0
5
19
2.71
1.23
1.0
1.5
—
—
—
0
0
6
26
2.38
1.20
1.7
1.5
—
—
—
0
0
11
59
1.96
1.12
4.0
3.7
29.91
32.02
%
0.27
11
44
0
30
0.00
0.99
0.0
2.2
—
0.62
—
0
24
9
152
0.55
0.98
1.2
1.6
—
—
—
0
0
81
723
1.50
0.97
4.9
4.2
15.23
14.50
pmol/l
1.54
74
680
7
37
1.95
0.96
3.4
5.4
60.94
59.89
%
—
7
37
14
87
1.70
0.93
2.6
1.6
—
—
—
0
0
20
137
1.57
0.92
3.9
4.3
2.11
19.38
mg/mmol
1.61
14
90
33
254
1.43
0.89
1.7
1.9
90.65
97.37
pmol/l
0.43
22
124
31
393
0.70
0.86
1.7
2.0
—
—
—
0
0
20
275
0.66
0.86
2.1
2.3
—
—
—
0
0
29
220
1.44
0.84
6.3
3.6
0.00
0.00
estimate
-0.00
14
82
14
90
1.64
0.83
2.3
1.6
—
—
—
0
0
22
295
0.68
0.83
2.1
2.4
—
—
—
0
0
10
58
1.80
0.83
2.2
4.2
4.83
4.92
pmol/l
—
10
52
17
116
1.55
0.80
1.5
2.7
251.35
357.08
nmol/l
2.52
17
111
20
143
1.49
0.77
5.9
11.7
25.15
23.83
mmol/l
1.42
20
143
5
23
2.23
0.77
1.0
1.2
—
—
—
0
0
12
180
0.62
0.76
2.0
2.5
—
—
—
0
0
21
155
1.44
0.70
2.7
4.1
2.30
2.12
e6/l
0.06
12
81
5
29
1.76
0.64
1.6
2.1
—
—
—
0
0
8
49
1.68
0.64
5.3
18.7
0.97
1.22
%
—
8
49
5
30
1.70
0.62
1.6
2.2
—
—
—
0
0
11
158
0.66
0.58
1.7
2.4
—
—
—
0
0
6
36
1.71
0.58
3.3
1.4
—
—
—
0
0
36
300
1.30
0.58
4.5
4.1
32.11
31.14
u/l
0.10
36
290
96
914
1.49
0.55
18.0
13.0
27.82
22.37
mg/l
0.67
85
680
50
443
1.24
0.47
5.5
3.7
0.00
0.00
estimate
-0.00
16
80
20
159
1.32
0.44
2.8
3.9
0.46
0.57
e6/l
0.10
11
86
22
179
1.29
0.42
3.2
3.7
1.66
1.37
mg/l
0.17
17
135
14
106
1.37
0.41
24.9
18.1
106.71
104.76
mmol/l
1.17
14
106
0
17
0.00
0.41
0.0
3.6
—
10.67
—
0
17
28
239
1.23
0.36
7.0
2.8
0.07
0.00
estimate
0.47
14
62
49
443
1.20
0.36
5.4
3.7
0.00
0.00
estimate
-0.00
13
85
49
446
1.18
0.33
5.4
3.8
0.00
0.00
estimate
-0.00
15
80
17
206
0.79
0.33
3.8
3.2
1.02
1.02
kg/l
0.17
11
135
11
141
0.75
0.32
3.1
5.3
335.55
314.29
umol/l
0.30
11
134
32
355
0.86
0.25
1.7
1.7
0.46
1.68
u/ml
—
7
71
35
316
1.16
0.25
6.2
3.3
0.00
0.01
estimate
0.49
12
68
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
0.00
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
0.00
—
0
10
0
10
0.00
0.21
0.0
1.0
—
0.00
—
0
10
0
12
0.00
0.21
0.0
1.2
—
198.33
—
0
12
0
13
0.00
0.21
0.0
3.8
—
1.11
—
0
6
6
50
1.21
0.20
4.0
3.9
—
—
—
0
0
7
59
1.20
0.18
1.7
1.3
—
—
—
0
0
14
124
1.15
0.12
3.1
6.1
4.40
10.30
umol/l
—
9
104
5
45
1.12
0.10
65.6
19.2
0.64
0.62
%
—
5
45
5
48
1.04
0.09
65.6
18.2
1.00
1.46
%
—
5
48
6
55
1.10
0.09
1.2
1.7
—
—
—
0
0
5
60
0.83
0.08
1.6
1.4
—
—
—
0
0
67
686
0.94
0.08
4.6
3.1
5.62
5.57
mmol/l
0.21
61
634
8
94
0.84
0.07
1.0
1.1
—
—
—
0
0
21
220
0.94
0.04
4.6
3.1
38.19
55.08
u/l
3.64
21
209
5
52
0.96
0.00
1.6
1.6
—
—
—
0
0
6
68
0.88
-0.00
1.3
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
45.50
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
0.25
—
0
7
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
70.00
—
0
6
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
11.86
—
0
7
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
7.07
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
104.71
—
0
7
0
9
0.00
-0.00
0.0
5.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
370.57
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.2
—
—
—
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
0
7
0.00
-0.00
0.0
1.1
—
12.71
—
0
7
(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
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
0.28
—
0
7
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
0.06
—
0
8
0
6
0.00
-0.00
0.0
3.7
—
20.33
—
0
6
0
5
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
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
73.43
—
0
7
0
6
0.00
-0.00
0.0
5.2
—
11.43
—
0
6
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
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).