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 |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
106 |
4. Check minimum number of eventsNone |
106 |
5. Include endpointsNone |
106 |
6. Filter based on genotype QC (FinnGen only) |
99 |
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
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 | 99 | 55 | 44 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 11.25 | 13.70 | 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
- 106
- Matched controls
- 1060
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
+∞
57.7
50
*
Z31.5
ICD-10 Finland
Genetic counselling
13.5
36.7
44
53
Z01.1
ICD-10 Finland
Examination of ears and hearing
9.4
30.0
53
102
Q87.06
ICD-10 Finland
Velocardiofacial syndrome
+∞
27.3
25
*
ZXE10
NOMESCO Finland
More than one and less than three hours
7.1
23.0
66
200
WX408
NOMESCO Finland
General anesthesy, balanced
5.7
18.1
56
174
ZXD10
NOMESCO Finland
Scheduled procedure
5.4
16.7
67
255
Q87.03
ICD-10 Finland
Syndrome Goldenhar
+∞
16.0
15
*
UDC00
NOMESCO Finland
Ear microscopy
8.1
15.2
23
35
Z01.0
ICD-10 Finland
Examination of eyes and vision
5.2
14.9
43
123
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
86.2
14.0
15
*
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
13.6
29
63
Z2221
NOMESCO Finland
Medical doctor
4.4
12.8
53
197
Q87.04
ICD-10 Finland
Syndrome Robin
+∞
12.8
12
*
Q35.1
ICD-10 Finland
Cleft hard palate
146.6
12.7
13
*
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
5.6
12.6
29
67
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
11.1
12.6
24
27
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
5.8
12.5
27
59
DFF00
NOMESCO Finland
Pure tone audiometry
7.0
12.3
21
36
SAA04
NOMESCO Finland
Special examination of mouth
5.5
12.1
28
65
H65.3
ICD-10 Finland
Chronic mucoid otitis media
5.3
11.7
28
67
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.7
11.7
25
54
Z3229
NOMESCO Finland
Other healthcare associate professional
5.6
11.4
25
55
D82.1
ICD-10 Finland
Di George syndrome
+∞
10.6
10
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
4.0
10.4
43
156
F83
ICD-10 Finland
Mixed specific developmental disorders
10.4
10.4
20
23
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
44.6
10.2
12
*
ZXA10
NOMESCO Finland
Bilateral
4.2
10.2
35
111
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
4.4
10.0
31
91
Z01.8
ICD-10 Finland
Other specified special examinations
4.0
10.0
37
124
SBB00
NOMESCO Finland
Clinical photography of mouth and teeth
5.4
9.8
22
49
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
19.9
9.7
14
8
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.5
9.3
51
221
ZXE00
NOMESCO Finland
One hour or less
3.5
9.2
62
304
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.9
9.1
34
114
Q35.71
ICD-10 Finland
Submucous cleft palate
97.5
8.5
9
*
XFE00
NOMESCO Finland
Epicardial ultrasonography
97.5
8.5
9
*
ZXA05
NOMESCO Finland
Left side
4.2
8.5
27
80
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
16.2
8.4
13
9
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
3.3
8.0
68
374
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
16.7
7.9
12
8
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.1
7.7
25
75
31
HP
Congenital heart failure surgery
85.8
7.5
8
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
85.8
7.5
8
*
WX002
NOMESCO Finland
Sedation and analgesia
4.2
7.5
23
66
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
*
H72.0
ICD-10 Finland
Central perforation of tympanic membrane
13.3
7.3
12
10
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
21.9
7.3
10
5
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
21.9
7.3
10
5
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
21.9
7.3
10
5
EBA15
NOMESCO Finland
Extraction of multiple teeth
11.2
7.3
13
13
Q21.10
ICD-10 Finland
Persistent ostium secundum
11.2
7.3
13
13
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
7.3
25
78
Z96.1
ICD-10 Finland
Presence of intraocular lens
12.1
7.0
12
11
Z2446
NOMESCO Finland
Social worker
3.6
6.9
27
92
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
42.9
6.9
8
*
H52.2
ICD-10 Finland
Astigmatism
7.7
6.8
15
22
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.1
6.5
20
57
Q35.9
ICD-10 Finland
Cleft palate, unspecified
74.1
6.5
7
*
Q17.2
ICD-10 Finland
Microtia
74.1
6.5
7
*
EHC30
NOMESCO Finland
Reconstruction of palate
74.1
6.5
7
*
C01AA05
ATC
digoxin; systemic
74.1
6.5
7
*
L28
ICPC
Limited function/disability (L)
4.5
6.5
17
43
R49.2
ICD-10 Finland
Hypernasality and hyponasality
+∞
6.3
6
*
Q87.4
ICD-10 Finland
Marfan syndrome
+∞
6.3
6
*
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
6.3
6
*
Q16.1
ICD-10 Finland
Congenital absence, atresia and stricture of auditory canal (external)
+∞
6.3
6
*
Q35.3
ICD-10 Finland
Cleft soft palate
+∞
6.3
6
*
SJA04
NOMESCO Finland
Very demanding workplan for orthodontic treatment
+∞
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
*
R62.0
ICD-10 Finland
Delayed milestone
6.1
6.1
16
30
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.2
6.1
29
111
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
27
98
3.35
6.21
3.1
5.0
1900.05
847.46
ng/l
0.30
20
84
61
371
2.52
5.12
10.0
12.2
1.22
1.23
mmol/l
0.33
56
339
30
137
2.66
4.50
8.0
7.5
2.41
1.29
mmol/l
0.92
25
93
40
221
2.30
3.94
10.1
7.9
1.22
1.12
inr
0.16
13
58
40
223
2.27
3.84
2.0
3.2
3.24
2.68
mg/l
1.10
35
198
9
17
5.68
3.59
3.7
3.8
18.89
9.12
%
—
9
17
9
18
5.36
3.45
3.7
3.6
—
—
—
0
0
70
859
0.45
3.39
3.9
3.9
—
—
—
0
0
8
17
5.00
2.98
3.6
3.8
18.00
25.88
%
—
8
17
25
126
2.29
2.97
7.0
6.6
24.98
24.21
mmol/l
0.97
25
126
9
22
4.37
2.95
3.3
3.2
0.42
0.22
e9/l
—
9
16
9
22
4.37
2.95
3.3
3.2
430.33
640.25
e6/l
—
9
16
13
47
3.01
2.94
5.7
2.6
—
—
—
0
0
7
13
5.68
2.92
5.3
4.3
52.29
50.85
%
—
7
13
62
450
1.91
2.67
5.5
8.4
5.95
6.13
mmol/l
0.51
56
405
11
36
3.29
2.66
1.5
3.1
76.67
73.60
ml/min/173m2
—
6
10
7
15
4.91
2.64
3.1
2.4
959.86
801.07
e6/l
—
7
15
31
179
2.03
2.60
2.0
2.9
—
—
—
0
0
27
148
2.11
2.60
3.3
10.0
2.20
1.34
mmol/l
0.99
21
110
27
151
2.06
2.46
7.1
12.2
26.47
25.05
mmol/l
1.45
27
151
10
35
3.05
2.28
1.4
1.4
—
—
—
0
0
0
55
0.00
2.14
0.0
2.1
—
148.79
—
0
29
0
56
0.00
2.14
0.0
2.0
—
—
—
0
0
5
13
3.98
1.73
1.6
1.3
—
—
—
0
0
47
346
1.64
1.69
2.6
3.2
—
—
—
0
0
10
44
2.40
1.61
4.0
8.6
149.10
174.00
%
—
10
44
5
15
3.44
1.54
2.4
2.1
—
—
—
0
0
5
15
3.44
1.54
2.4
2.1
—
—
—
0
0
68
559
1.60
1.50
11.5
11.2
3.42
3.80
e9/l
0.95
62
471
35
247
1.62
1.46
4.3
4.4
—
—
—
0
0
5
118
0.40
1.35
1.4
1.5
—
—
—
0
0
11
56
2.08
1.27
4.6
8.1
88.55
93.82
%
0.32
11
56
24
160
1.65
1.23
3.3
2.7
13.82
19.20
ng/l
0.55
17
75
27
187
1.60
1.20
5.9
3.6
0.00
0.00
estimate
-0.00
12
66
5
20
2.57
1.16
2.4
2.0
—
—
—
0
0
5
20
2.57
1.16
2.4
1.9
—
—
—
0
0
7
30
2.43
1.14
3.4
5.5
60.94
58.39
%
—
7
30
10
52
2.02
1.10
4.1
3.3
30.60
31.94
%
—
10
35
9
156
0.54
1.09
2.2
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
0.91
1.31
%
—
7
35
27
358
0.67
0.98
1.6
1.9
—
—
—
0
0
9
51
1.83
0.97
2.0
3.5
4.99
4.92
pmol/l
—
9
45
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
0
27
0.00
0.78
0.0
2.1
—
0.62
—
0
21
5
24
2.14
0.75
2.4
1.8
—
—
—
0
0
92
860
1.53
0.72
15.3
11.3
28.10
22.67
mg/l
0.62
78
596
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
5
28
1.82
0.67
1.6
2.3
—
—
—
0
0
25
194
1.38
0.64
1.5
1.7
97.89
98.88
pmol/l
0.04
15
98
32
261
1.32
0.60
4.5
4.0
32.28
31.19
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
32
265
1.30
0.53
6.1
3.3
—
—
—
0
0
21
260
0.76
0.47
2.1
2.3
—
—
—
0
0
19
238
0.75
0.47
2.2
2.2
—
—
—
0
0
13
95
1.42
0.46
1.5
2.7
224.77
348.80
nmol/l
2.56
13
89
65
597
1.23
0.43
13.2
8.2
107.72
102.51
ml/min/173m2
1.00
49
453
17
133
1.33
0.42
2.3
3.8
3.60
2.18
e6/l
0.44
11
79
0
15
0.00
0.41
0.0
1.6
—
6.31
—
0
15
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
0
17
0.00
0.41
0.0
3.4
—
10.59
—
0
17
87
827
1.29
0.40
20.2
15.9
15.32
13.45
%
2.04
87
819
70
653
1.21
0.37
4.7
3.7
15.21
14.44
pmol/l
1.22
63
608
41
364
1.21
0.37
5.6
3.4
0.00
0.00
estimate
-0.00
13
66
6
45
1.35
0.34
1.5
1.3
—
—
—
0
0
11
84
1.35
0.31
5.5
14.4
106.36
104.46
mmol/l
0.92
11
84
16
133
1.24
0.26
2.3
3.6
0.63
0.45
e6/l
—
10
80
13
106
1.26
0.24
3.2
5.9
4.58
11.78
umol/l
—
8
89
40
366
1.15
0.24
7.0
4.8
0.00
0.00
estimate
-0.00
11
66
40
368
1.14
0.22
5.6
3.4
0.00
0.00
estimate
-0.00
12
63
0
11
0.00
0.21
0.0
1.0
—
222.45
—
0
11
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
198.33
—
0
12
6
48
1.26
0.20
4.2
4.0
—
—
—
0
0
59
621
0.89
0.20
4.3
2.7
5.71
5.61
mmol/l
0.28
54
569
11
129
0.84
0.15
2.8
5.1
342.27
3668.98
umol/l
0.49
11
122
5
48
1.04
0.09
1.2
1.7
—
—
—
0
0
30
316
0.93
0.08
1.6
1.6
0.40
1.37
u/ml
—
6
59
76
748
1.06
0.05
5.2
4.2
2.16
1.89
mu/l
1.23
71
711
55
556
0.98
0.00
4.5
3.6
36.16
36.64
mmol/mol
0.20
49
528
19
187
1.02
0.00
4.6
3.1
39.16
55.63
u/l
3.01
19
176
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
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
7
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
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
0.28
—
0
7
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
104.71
—
0
7
0
8
0.00
0.00
0.0
5.0
—
—
—
0
0
8
86
0.92
0.00
1.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.3
—
20.33
—
0
6
(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
9
0.00
-0.00
0.0
1.0
—
0.00
—
0
9
5
59
0.84
-0.00
1.6
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
0.00
—
0
9
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
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
6.57
—
0
6
0
5
0.00
-0.00
0.0
1.4
—
72.40
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
12.67
—
0
6
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
0.00
—
0
9
0
6
0.00
-0.00
0.0
4.5
—
11.60
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.8
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
259.20
—
0
5
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
5
54
0.92
-0.00
1.0
1.1
—
—
—
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).