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. |
70 |
4. Check minimum number of eventsNone |
70 |
5. Include endpointsNone |
70 |
6. Filter based on genotype QC (FinnGen only) |
65 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Neurofibromatosis, type 2
based on the number of shared cases.
Similar with more cases:
- Phakomatoses, not elsewhere classified
- Other congenital malformations
- Other congenital malformations, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 65 | 39 | 26 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 44.81 | 42.75 | 47.90 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
No data
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
- 69
- Matched controls
- 690
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q85.01
ICD-10 Finland
Neurofibromatosis, type 2
+∞
99.1
69
*
Q85.00
ICD-10 Finland
Neurofibromatosis, type 1
+∞
53.1
44
*
Q85.09
ICD-10 Finland
Unspecified neurofibromatosis
+∞
38.1
33
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
15.1
28.9
35
44
Q85.0
ICD-10 Finland
Neurofibromatosis (nonmalignant)
+∞
28.0
25
*
D33.30
ICD-10 Finland
Acoustic neuroma
216.6
27.9
27
*
Q85.1
ICD-10 Finland
Tuberous sclerosis
+∞
25.6
23
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
9.6
18.9
30
51
QAE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in head or neck
20.9
16.1
24
17
2377A
ICD-9 Finland
Neoplasm of uncertain behaviour of endocrine glands and nervous system, Neurofibromatosis
+∞
15.1
14
*
74340
ICD-8 Finland
Other congenital anomalies of nervous system, Neurofibromatosis
+∞
14.0
13
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
6.7
13.5
31
75
Z31.5
ICD-10 Finland
Genetic counselling
12.5
12.9
24
28
D32.00
ICD-10 Finland
Benign tumor of the meninges on the outer surface of the cerebrum
+∞
12.9
12
*
ZXA05
NOMESCO Finland
Left side
6.0
12.0
31
83
AAB00
NOMESCO Finland
Extirpation of intracranial lesion
43.1
11.8
14
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
6.7
11.8
24
51
9560/0-C72.4
ICD-O-3
Schwannoma, NOS, of acoustic nerve
128.8
10.7
11
*
XCK00
NOMESCO Finland
Perimetry
16.9
10.3
16
12
ZXE10
NOMESCO Finland
More than one and less than three hours
5.0
10.1
40
149
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
18.7
10.1
15
10
QBE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin of trunk
10.4
10.0
20
26
ACB19
NOMESCO Finland
Excision of lesion of peripheral nerve other or unspecified
115.2
9.7
10
*
Q85.9
ICD-10 Finland
Phakomatosis, unspecified
+∞
9.6
9
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
8.9
9.2
20
30
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
32.1
8.8
11
*
Z3229
NOMESCO Finland
Other healthcare associate professional
9.9
8.5
17
22
WX408
NOMESCO Finland
General anesthesy, balanced
4.5
8.4
30
101
QDE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in lower limb
15.7
8.3
13
10
ZXD10
NOMESCO Finland
Scheduled procedure
4.2
8.1
37
148
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
28.8
7.8
10
*
ZXC10
NOMESCO Finland
Use of laser
18.3
7.5
11
7
D32.1
ICD-10 Finland
Benign neoplasm: Spinal meninges
+∞
7.4
7
*
D33.45
ICD-10 Finland
Benign Schwannom in the nerve root of the spinal cord
+∞
7.4
7
*
XCK10
NOMESCO Finland
Photography of fundus of eye
9.2
7.4
15
20
NDR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of wrist or hand
33.9
7.3
9
*
DFF00
NOMESCO Finland
Pure tone audiometry
6.8
7.1
18
34
R4110
NOMESCO Finland
Physiotherapy
4.0
7.1
29
106
L28
ICPC
Limited function/disability (L)
4.9
7.0
18
46
S18
ICPC
Laceration/cut
3.7
6.6
44
221
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
76.6
6.5
7
*
D36.1
ICD-10 Finland
Benign neoplasm: Peripheral nerves and autonomic nervous system
76.6
6.5
7
*
ZXE20
NOMESCO Finland
More than three and less than five hours
5.0
6.5
16
39
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
29.7
6.4
8
*
ZXA10
NOMESCO Finland
Bilateral
4.2
6.4
21
65
D33.3
ICD-10 Finland
Benign neoplasm: Cranial nerves
+∞
6.3
6
*
ABB00
NOMESCO Finland
Excision of lesion of spinal canal
+∞
6.3
6
*
WX002
NOMESCO Finland
Sedation and analgesia
4.2
6.2
20
61
Z3231
NOMESCO Finland
Registered nurse
3.6
6.1
28
109
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
22
54
5.51
9.08
8.0
8.3
0.42
1.66
mmol/l
0.58
17
48
17
40
5.31
7.23
7.5
13.3
24.31
24.43
mmol/l
0.04
17
40
20
62
4.13
6.02
9.6
7.8
106.50
104.60
mmol/l
0.60
20
62
8
6
14.83
5.22
3.1
7.2
2.14
0.95
nmol/l
—
8
6
15
42
4.29
5.09
9.0
9.8
1.17
1.18
mmol/l
0.01
15
42
31
142
3.15
5.06
2.4
2.5
—
—
—
0
0
13
26
5.90
4.93
10.4
9.6
24.77
25.04
mmol/l
0.09
13
26
14
33
5.05
4.65
10.5
8.9
0.56
0.68
%
0.51
14
33
14
33
5.05
4.65
10.5
9.2
94.71
95.10
%
0.07
14
33
14
34
4.89
4.53
10.1
8.9
1.01
1.09
%
0.21
14
34
49
319
2.85
3.84
7.9
5.4
6.33
6.36
mmol/l
0.04
49
300
7
10
7.64
3.45
2.6
1.4
0.59
0.54
nmol/l
—
7
10
6
7
9.24
3.33
4.0
3.7
387.33
294.29
umol/l
—
6
7
42
276
2.33
2.90
3.0
3.0
—
—
estimate
—
0
0
19
91
2.50
2.64
2.5
3.5
4.05
3.21
e6/l
0.16
11
43
6
12
5.36
2.45
1.7
2.6
24.17
24.89
mmol/l
—
6
12
11
42
2.92
2.27
4.4
3.6
—
—
—
0
0
0
51
0.00
1.98
0.0
1.5
—
874.59
—
0
46
11
47
2.59
1.89
1.7
4.3
1.98
10.40
ug/l
—
6
36
5
12
4.40
1.85
2.0
1.3
—
—
—
0
0
32
218
1.87
1.73
2.2
2.0
100.71
94.48
pmol/l
0.31
20
105
16
86
2.12
1.67
3.4
3.1
2.49
2.44
mmol/l
0.76
16
75
11
51
2.38
1.60
3.5
2.9
0.23
0.23
g/l
0.08
11
46
7
28
2.66
1.49
1.3
1.5
—
—
—
0
0
5
17
3.09
1.38
2.0
1.4
—
—
—
0
0
18
110
1.86
1.32
2.8
3.2
0.51
0.81
e6/l
—
10
63
8
36
2.38
1.29
4.5
10.7
23.40
24.83
mmol/l
—
8
36
59
513
2.04
1.25
21.3
19.0
13.50
13.43
%
0.16
59
508
44
356
1.65
1.15
8.2
12.9
4.39
3.98
e9/l
0.59
39
317
16
99
1.80
1.12
5.6
5.0
0.79
0.81
mmol/l
0.27
16
94
5
21
2.48
1.11
2.0
8.1
3.42
3.36
g/l
—
5
21
11
60
1.99
1.10
2.0
2.2
27.64
27.47
u/l
0.01
11
51
7
35
2.11
1.03
1.3
1.4
—
—
—
0
0
0
29
0.00
1.00
0.0
1.7
—
—
—
0
0
6
28
2.25
0.94
1.7
1.3
—
—
—
0
0
41
339
1.52
0.88
4.2
3.8
0.00
0.00
estimate
—
6
66
0
24
0.00
0.81
0.0
1.6
—
—
—
0
0
6
108
0.51
0.81
2.5
2.3
—
—
—
0
0
0
26
0.00
0.80
0.0
1.3
—
17.70
—
0
5
41
344
1.47
0.78
4.2
3.8
0.00
0.00
estimate
—
7
63
40
335
1.46
0.76
4.2
3.7
0.00
0.00
estimate
—
7
66
7
118
0.55
0.76
2.9
2.4
—
—
—
0
0
11
73
1.60
0.60
1.6
2.1
—
—
—
0
0
0
22
0.00
0.60
0.0
1.5
—
53.87
—
0
22
0
23
0.00
0.59
0.0
1.6
—
1.14
—
0
16
0
23
0.00
0.59
0.0
1.6
—
1.04
—
0
16
0
23
0.00
0.59
0.0
1.3
—
—
—
0
0
0
23
0.00
0.59
0.0
1.6
—
1.21
—
0
16
9
62
1.52
0.56
4.3
7.9
—
—
—
0
0
24
196
1.34
0.48
4.9
3.2
19.94
23.17
ng/l
0.17
16
121
22
178
1.35
0.47
4.0
3.7
0.00
0.00
estimate
—
7
62
10
71
1.48
0.42
1.7
2.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.9
—
—
—
0
0
12
95
1.32
0.28
1.8
2.1
—
—
—
0
0
48
449
1.23
0.27
2.9
3.5
—
—
—
0
0
18
154
1.23
0.24
3.7
4.0
1.02
1.02
kg/l
—
10
97
5
38
1.34
0.24
1.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
2.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.8
—
—
—
0
0
0
12
0.00
0.21
0.0
2.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
5
67
0.73
0.18
2.4
2.6
—
—
—
0
0
15
170
0.85
0.16
2.2
1.5
—
—
—
0
0
17
154
1.14
0.11
3.2
3.8
0.86
8.22
mg/mmol
1.72
11
103
24
254
0.92
0.08
4.3
3.5
0.00
0.00
estimate
—
5
54
7
79
0.87
0.07
2.4
1.9
3.84
3.39
ratio
—
7
63
12
117
1.03
0.00
1.5
1.5
—
—
—
0
0
19
194
0.97
0.00
3.2
2.8
0.00
0.00
estimate
—
6
57
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
8.17
—
0
9
0
7
0.00
-0.00
0.0
1.1
—
335.71
—
0
7
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
6.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
5.02
—
0
5
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
10.40
—
0
5
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_NEUROFIBROMATOSIS_2 – Neurofibromatosis, type 2
GWS hits: 3
This endpoint is excluded (different definition than used in FinnGen).