No definition available.
Phakomatoses, not elsewhere classified
EFO MESH Endpoint Browser PheWeb
Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED
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. |
430 |
4. Check minimum number of eventsNone |
430 |
5. Include endpointsNone |
430 |
6. Filter based on genotype QC (FinnGen only) |
406 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q8
- Name in latin
- Phacomatoses non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Phakomatoses, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3534 | 1781 | 1742 |
| Only index persons | 2959 | 1519 | 1440 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.05 | 0.05 |
| Only index persons | 0.06 | 0.06 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 24.21 | 27.82 | 20.38 |
| Only index persons | 27.09 | 30.36 | 23.64 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 406 | 233 | 173 |
| Unadjusted period prevalence (%) | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | 37.18 | 37.41 | 36.88 |
-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
↥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
- 430
- Matched controls
- 4300
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q85.00
ICD-10 Finland
Neurofibromatosis, type 1
+∞
297.7
250
*
Z31.5
ICD-10 Finland
Genetic counselling
19.9
191.8
179
149
Q85.09
ICD-10 Finland
Unspecified neurofibromatosis
+∞
191.4
169
*
Q85.0
ICD-10 Finland
Neurofibromatosis (nonmalignant)
+∞
105.7
97
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
9.1
89.8
134
204
Q85.1
ICD-10 Finland
Tuberous sclerosis
+∞
80.8
75
*
Q85.01
ICD-10 Finland
Neurofibromatosis, type 2
+∞
74.1
69
*
QBE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin of trunk
8.9
64.9
91
126
QAE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in head or neck
8.5
58.5
84
119
Z01.0
ICD-10 Finland
Examination of eyes and vision
5.2
58.4
166
460
2377A
ICD-9 Finland
Neoplasm of uncertain behaviour of endocrine glands and nervous system, Neurofibromatosis
+∞
57.6
54
*
QDE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in lower limb
13.0
50.7
51
44
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
9.6
41.7
52
61
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
7.0
40.1
67
111
74340
ICD-8 Finland
Other congenital anomalies of nervous system, Neurofibromatosis
+∞
39.2
37
*
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
14.1
36.1
34
26
QCE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in upper limb
11.2
35.6
39
38
Q85.9
ICD-10 Finland
Phakomatosis, unspecified
+∞
34.9
33
*
XCK00
NOMESCO Finland
Perimetry
7.0
34.8
57
92
Q85.82
ICD-10 Finland
of Hipple-Lindau syndrome
+∞
32.7
31
*
ZXC10
NOMESCO Finland
Use of laser
10.0
30.5
36
39
QAA25
NOMESCO Finland
Destruction of lesion of head or neck
11.0
27.4
30
29
D37.7
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Other digestive organs
11.4
27.2
29
27
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
4.8
25.7
64
152
D33.30
ICD-10 Finland
Acoustic neuroma
37.0
24.6
31
9
N03AF02
ATC
oxcarbazepine; oral
6.5
23.9
41
69
G40.9
ICD-10 Finland
Epilepsy, unspecified
6.8
22.6
37
59
G40.22
ICD-10 Finland
Complex partial epileptic seizure with secondary generalization
8.7
21.6
28
34
ZXE10
NOMESCO Finland
More than one and less than three hours
2.6
20.9
186
963
D36.1
ICD-10 Finland
Benign neoplasm: Peripheral nerves and autonomic nervous system
80.9
20.9
23
*
NDR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of wrist or hand
23.8
20.7
29
13
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
7.9
20.6
29
39
ZXD10
NOMESCO Finland
Scheduled procedure
2.6
19.7
193
1040
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
16.9
19.1
30
19
N03AX14
ATC
levetiracetam; systemic
6.7
17.8
29
46
WX408
NOMESCO Finland
General anesthesy, balanced
2.5
17.6
148
734
XCW99
NOMESCO Finland
Other investigative procedure of eye
3.8
17.6
59
174
ZXE20
NOMESCO Finland
More than three and less than five hours
3.1
17.2
82
302
ACB19
NOMESCO Finland
Excision of lesion of peripheral nerve other or unspecified
52.3
17.1
20
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.6
16.7
122
564
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
3.8
16.7
54
155
TQW99
NOMESCO Finland
Other minor procedure on skin
5.0
16.7
37
79
Q82.50
ICD-10 Finland
Naevus flammeus
176.6
16.6
17
*
XA800
NOMESCO Finland
Neuropsychological investigation
4.1
16.3
47
124
AAB00
NOMESCO Finland
Extirpation of intracranial lesion
17.6
16.3
25
15
Q85.88
ICD-10 Finland
Other phakomatoses, not elsewhere classified
+∞
15.7
15
*
Q85.80
ICD-10 Finland
Peutz-Jegher syndrome
+∞
15.7
15
*
TPH07
NOMESCO Finland
Cathetrisation of artery
3.4
15.5
61
199
R4120
NOMESCO Finland
Occupational therapy
3.8
15.1
49
141
XCK10
NOMESCO Finland
Photography of fundus of eye
3.5
14.8
54
168
QBA25
NOMESCO Finland
Destruction of lesion of skin of trunk
14.9
14.7
24
17
WX002
NOMESCO Finland
Sedation and analgesia
2.7
14.7
95
411
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.8
14.3
80
321
QAA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of head or neck
55.2
13.9
16
*
ZXC07
NOMESCO Finland
Carbon dioxide laser
77.7
13.7
15
*
ABB00
NOMESCO Finland
Excision of lesion of spinal canal
77.7
13.7
15
*
D23.5
ICD-10 Finland
Benign neoplasm: Skin of trunk
5.4
12.8
26
51
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.6
12.8
84
365
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
25.2
12.6
17
7
181
Kela drug reimbursment
Retigabine and vigabatrin
133.8
12.5
13
*
QDA25
NOMESCO Finland
Destruction of lesion of skin of lower limb
133.8
12.5
13
*
D33.45
ICD-10 Finland
Benign Schwannom in the nerve root of the spinal cord
133.8
12.5
13
*
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
10.1
12.4
24
25
ZXC12
NOMESCO Finland
Pulse colorlaser
38.8
12.3
15
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.7
12.2
75
314
WX302
NOMESCO Finland
Thoracal epidural anesthesy
4.4
12.2
31
74
D41.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Kidney
9.1
12.2
25
29
AA1CM
NOMESCO Finland
Extensive MRI examination of brain with 3 Tesla magnet
9.1
12.2
25
29
WX402
NOMESCO Finland
General anaesthesia
2.3
12.1
116
597
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
2.9
12.0
63
243
Q82.58
ICD-10 Finland
Congenital non-neoplastic naevus
48.1
11.9
14
*
183
Kela drug reimbursment
Lamotrigin and topiramate
11.0
11.9
22
21
ZXA00
NOMESCO Finland
Right side
2.3
11.6
113
584
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.1
11.6
33
86
L81.3
ICD-10 Finland
Café au lait spots
+∞
11.5
11
*
D32.1
ICD-10 Finland
Benign neoplasm: Spinal meninges
+∞
11.5
11
*
QBA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of trunk
123.2
11.5
12
*
NA1CG
NOMESCO Finland
Cervical spine extensive MRI examination with high intensity magnet
8.7
11.4
24
29
D48.9
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Neoplasm of uncertain or unknown behaviour, unspecified
9.3
11.4
23
26
ZXE00
NOMESCO Finland
One hour or less
2.0
11.2
182
1144
SPAT1229
SPAT
Assessment of need for aid
4.0
11.1
32
84
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.4
10.9
41
130
D32.00
ICD-10 Finland
Benign tumor of the meninges on the outer surface of the cerebrum
18.4
10.8
16
9
9736
FHL
Subcutaneous tumor removal in operating room or anesthesia
22.1
10.7
15
7
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.2
10.7
116
624
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
3.6
10.5
36
107
QXA40
NOMESCO Finland
Skin laser treatment or photocoagulation, unspecified location
+∞
10.5
10
*
D31.2
ICD-10 Finland
Benign neoplasm: Retina
+∞
10.5
10
*
Q85.81
ICD-10 Finland
Sturge-Weber syndrome
+∞
10.5
10
*
D33.14
ICD-10 Finland
Hemangioblastoma and cerebellum
+∞
10.5
10
*
Q85.83
ICD-10 Finland
Gardner syndrome
+∞
10.5
10
*
N05BA09
ATC
clobazam; oral
12.5
10.4
18
15
G40.10
ICD-10 Finland
Simple partial seizures
16.6
10.4
16
10
N03AG04
ATC
vigabatrin; oral
33.4
10.4
13
*
N03AG01
ATC
valproic acid; systemic, rectal
3.2
10.2
42
141
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.0
10.0
178
1142
KA1AE
NOMESCO Finland
Kidney ultrasound examination
7.9
10.0
22
29
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
2.5
9.9
69
306
D30.0
ICD-10 Finland
Benign neoplasm: Kidney
20.6
9.9
14
7
Z3229
NOMESCO Finland
Other healthcare associate professional
3.0
9.8
46
166
Z3226
NOMESCO Finland
Physiotherapist
2.2
9.8
94
480
ABB10
NOMESCO Finland
Resection of lesion of spinal canal
56.3
9.7
11
*
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
11.7
9.6
17
15
D48.1
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Connective and other soft tissue
7.4
9.6
22
31
NK1AT
NOMESCO Finland
Muscle biopsy with ultrasound guidance
30.8
9.4
12
*
D21.1
ICD-10 Finland
Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder
12.7
9.4
16
13
D33.46
ICD-10 Finland
Benign neurofibroma in the nerve root of the spinal cord
+∞
9.4
9
*
22550
ICD-8 Finland
Benign neoplasm of brain and other parts of nervous system, Peripheral nerves
+∞
9.4
9
*
R4110
NOMESCO Finland
Physiotherapy
2.0
9.1
126
737
N03AX16
ATC
[U] pregabalin
2.1
9.1
97
516
AA1AD
NOMESCO Finland
CT of head and brain
2.1
9.0
102
554
ZXA10
NOMESCO Finland
Bilateral
2.3
9.0
80
395
JN3BD
NOMESCO Finland
Extensive abdominal CT
2.8
8.9
48
187
AAB10
NOMESCO Finland
Partial excision of intracranial lesion
9.8
8.8
17
18
QBB10
NOMESCO Finland
Major dressing of wound of skin of trunk
4.1
8.7
24
61
QXA25
NOMESCO Finland
Destruction of lesion of skin, site unspecified
6.6
8.6
21
33
D18.0
ICD-10 Finland
Haemangioma, any site
6.6
8.6
21
33
TPH04
NOMESCO Finland
Cathetrisation of vein
2.1
8.5
94
505
N03AF01
ATC
carbamazepine; oral, rectal
3.5
8.5
30
91
QDA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of lower limb
91.8
8.4
9
*
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
91.8
8.4
9
*
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
13.1
8.4
14
11
9161/1-C71.6
ICD-O-3
Hemangioblastoma of cerebellum, NOS
+∞
8.4
8
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.8
8.3
43
164
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
10.3
8.1
15
15
R56.8
ICD-10 Finland
Other and unspecified convulsions
3.1
8.0
34
116
D12.6
ICD-10 Finland
Benign neoplasm: Colon, unspecified
3.6
7.9
26
75
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
13.4
7.9
13
10
G40.19
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures
13.4
7.9
13
10
JN1DG
NOMESCO Finland
Very extensive MRI examination of upper part of abdomen with high intensity magnet
7.2
7.9
18
26
SPAT1153
SPAT
Removal of sutures
1.9
7.8
123
747
JN3AD
NOMESCO Finland
Abdominal CT examination
2.5
7.8
52
226
N05BA01
ATC
diazepam; systemic, rectal
2.4
7.6
58
267
C64.88
ICD-10 Finland
Other malignant neoplasm of kidney, except renal pelvis
9.1
7.6
15
17
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
3.2
7.6
30
98
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
3.2
7.6
30
98
JFB00
NOMESCO Finland
Partial resection of small intestine
10.3
7.6
14
14
EP1CG
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with high intesity magnet
10.3
7.6
14
14
R22.0
ICD-10 Finland
Localized swelling, mass and lump, head
4.5
7.5
18
41
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
2.8
7.4
38
144
QCA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of upper limb
81.4
7.4
8
*
NA1DG
NOMESCO Finland
Cervical spine very extensive MRI examination with high intensity magnet
81.4
7.4
8
*
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
3.0
7.4
33
116
CS444
NOMESCO Finland
Visual field testing with Octopus automated perimetry
4.3
7.3
19
46
JF1AB
NOMESCO Finland
Passage examination of small bowell with X-ray
9.6
7.3
14
15
7595A
ICD-9 Finland
Other and unspecified congenital anomalies, Tuberous sclerosis
+∞
7.3
7
*
JFA73
NOMESCO Finland
Excision of lesion of small intestine
+∞
7.3
7
*
Q85.8
ICD-10 Finland
Other phakomatoses, not elsewhere classified
+∞
7.3
7
*
WX1DG
NOMESCO Finland
Very extensive total body MRI with high intensity magnet
+∞
7.3
7
*
340
Kela drug reimbursment
Everolimus
+∞
7.3
7
*
D33.00
ICD-10 Finland
Medial pilosytic astrocytoma of the cerebrum
+∞
7.3
7
*
D33.42
ICD-10 Finland
Hemangioblastoma of the spinal cord
+∞
7.3
7
*
XCD10
NOMESCO Finland
Electrophysiological examination of eye
6.0
7.3
19
33
N05CD08
ATC
midazolam; nasal, systemic
4.4
7.3
18
42
QX2XE
NOMESCO Finland
Ultrsound examination of soft tissue not elsewhere classified
4.1
7.2
20
51
9560/0-C72.4
ICD-O-3
Schwannoma, NOS, of acoustic nerve
30.6
7.2
9
*
H47.2
ICD-10 Finland
Optic atrophy
30.6
7.2
9
*
Z3231
NOMESCO Finland
Registered nurse
1.8
7.2
126
791
K56.6
ICD-10 Finland
Other and unspecified intestinal obstruction
6.2
7.1
18
30
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.3
7.1
54
248
JN3DG
NOMESCO Finland
Very extensive MRI examination with high intensity magnet
12.3
7.1
12
10
JDW98
NOMESCO Finland
Other transluminal endoscopic operation on stomach or duodenum
10.3
7.1
13
13
JN3CG
NOMESCO Finland
Extensive MRI examination of abdomen with high intensity magnet
10.3
7.1
13
13
H52.2
ICD-10 Finland
Astigmatism
4.0
7.1
20
52
M05BA04
ATC
alendronic acid; oral
3.2
7.0
28
92
HA1AE
NOMESCO Finland
Ultrasound examination of mammary glands
2.9
7.0
33
120
NA3CG
NOMESCO Finland
Lumbar spine extensive MRI examination with high intensity magnet
3.7
7.0
22
62
S18
ICPC
Laceration/cut
1.7
7.0
182
1281
CA1CG
NOMESCO Finland
Eye and orbita extensive MRI examination with high intensity magnet
14.1
6.9
11
8
DE2CG
NOMESCO Finland
Acoustic channel extensive MRI examination with high intensity magnet
8.5
6.9
14
17
ZXA05
NOMESCO Finland
Left side
1.9
6.9
92
528
QXE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in uspecified region
11.2
6.8
12
11
NA3DG
NOMESCO Finland
Lumbar spine very extensive MRI examination with high intensity magnet
40.7
6.8
8
*
D33.39
ICD-10 Finland
Benign tumor of the cranial nerves UNS
40.7
6.8
8
*
D37.2
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Small intestine
17.0
6.8
10
6
UJF02
NOMESCO Finland
Peroral enteroscopy
22.9
6.7
9
*
NFR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of hip or thigh
22.9
6.7
9
*
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
3.4
6.7
24
74
JFA98
NOMESCO Finland
Other transluminal endoscopic local operation on intestine
6.3
6.5
16
26
H52.1
ICD-10 Finland
Myopia
3.0
6.4
28
97
ZQX00
NOMESCO Finland
0-4% of the skin
70.9
6.4
7
*
ACB99
NOMESCO Finland
Other operation for lesion of peripheral nerve: other or unspecified
70.9
6.4
7
*
D33.4
ICD-10 Finland
Benign neoplasm: Spinal cord
70.9
6.4
7
*
D48.2
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Peripheral nerves and autonomic nervous system
70.9
6.4
7
*
WX602
NOMESCO Finland
Repeated or continuing anesthesia shots throug a catheter
2.3
6.4
49
226
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
3.6
6.4
21
61
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.2
6.3
54
261
QCA25
NOMESCO Finland
Destruction of lesion of skin of upper limb
11.2
6.3
11
10
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
18.3
6.3
9
5
WX1CG
NOMESCO Finland
Extensive total body MRI with high intensity magnet
+∞
6.3
6
*
D33.10
ICD-10 Finland
Benign pilosytic astrocytoma of brain stem
+∞
6.3
6
*
QDE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of lower limb
+∞
6.3
6
*
D32.04
ICD-10 Finland
Secondary or multiple benign tumor of the meninges above the exam
+∞
6.3
6
*
C72.3
ICD-10 Finland
Malignant neoplasm: Optic nerve
+∞
6.3
6
*
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
5.2
6.3
18
36
JN1CG
NOMESCO Finland
Extensive MRI examination of upper part of abdomen with high intensity magnet
5.2
6.3
18
36
YA1VG
NOMESCO Finland
MRI examination of head and neck with high intesity magnet for dose design of radiotherapy
27.1
6.2
8
*
L28
ICPC
Limited function/disability (L)
2.2
6.2
55
270
D17.1
ICD-10 Finland
Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk
3.9
6.1
18
48
D43.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Brain, supratentorial
12.8
6.1
10
8
D44.1
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Adrenal gland
10.2
6.1
11
11
M81.9
ICD-10 Finland
Osteoporosis, unspecified
4.0
6.0
17
44
WX110
NOMESCO Finland
Infiltration anesthesia
1.7
6.0
316
2638
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
40
34
12.87
39.97
4.6
3.4
2.19
7.36
nmol/l
0.56
40
34
82
287
3.29
18.82
6.3
10.6
5.03
5.18
kpa
0.62
76
275
82
288
3.28
18.71
6.3
10.7
0.02
1.03
mmol/l
1.01
63
231
81
287
3.25
18.19
6.4
10.6
14.98
12.91
kpa
1.74
76
276
228
1377
2.40
17.54
7.7
7.5
1.21
1.22
mmol/l
2.33
218
1266
101
424
2.81
16.71
6.8
8.2
1.05
1.10
mmol/l
0.99
95
401
235
1504
2.24
14.96
9.0
7.8
1.21
1.22
mmol/l
1.48
206
1298
191
1247
1.96
10.30
8.6
9.9
1.13
1.16
inr
0.28
63
386
114
649
2.03
8.89
2.3
2.7
6.37
6.76
e6/l
0.09
108
576
185
1240
1.86
8.86
6.3
5.4
35.85
36.76
g/l
1.28
171
1167
54
226
2.59
8.73
4.8
4.9
110.28
71.61
ng/l
0.74
47
208
143
895
1.90
8.39
3.2
3.1
1.04
0.38
e6/l
0.50
126
653
18
25
7.46
8.04
1.8
1.8
—
—
—
0
0
22
59
3.88
7.45
4.3
5.4
422.02
370.85
umol/l
0.67
22
53
211
1529
1.75
7.39
2.9
2.6
—
—
—
0
0
245
1855
1.75
7.31
6.4
5.2
6.16
6.50
mmol/l
2.80
240
1716
68
344
2.16
7.15
10.5
7.3
105.41
104.20
mmol/l
1.16
68
344
25
79
3.30
6.68
1.8
1.7
—
—
—
0
0
165
1142
1.72
6.62
3.6
3.2
—
—
—
0
0
217
1640
1.65
6.10
6.6
6.4
10.34
12.44
umol/l
2.00
201
1557
61
317
2.08
5.96
4.5
6.2
1.26
1.67
mmol/l
0.39
49
252
90
544
1.83
5.65
2.9
2.7
0.93
0.80
e6/l
0.14
59
299
58
305
2.04
5.49
2.7
2.8
0.21
0.23
g/l
0.85
52
285
10
11
9.27
5.31
2.1
2.3
27.06
18.92
umol/l
—
10
11
297
2492
1.62
5.00
8.1
7.0
79.84
79.93
u/l
0.01
281
2348
47
237
2.10
4.97
2.7
2.4
78.95
73.16
ml/min/173m2
0.41
21
98
20
67
3.08
4.89
2.6
8.9
24.97
24.14
mmol/l
0.38
20
67
116
787
1.65
4.77
2.7
2.4
—
—
—
0
0
137
971
1.60
4.71
2.7
2.6
50.72
62.42
u/l
1.53
125
910
83
517
1.75
4.67
3.0
2.8
3.73
2.37
e6/l
0.62
53
274
19
65
3.01
4.50
4.4
3.6
55.37
56.78
%
0.17
19
65
138
991
1.58
4.45
3.3
3.2
2.36
2.36
mmol/l
0.08
127
885
51
284
1.90
4.11
4.1
3.1
—
—
—
0
0
18
64
2.89
4.00
2.0
3.3
3.34
4.40
e9/l
1.46
18
64
74
467
1.71
3.95
3.2
2.5
12.96
14.09
umol/l
0.66
69
437
119
846
1.56
3.95
3.6
3.6
0.00
0.01
estimate
0.80
41
312
37
194
1.99
3.56
1.8
1.6
—
—
—
0
0
13
42
3.16
3.40
1.8
1.7
—
—
—
0
0
33
169
2.03
3.39
1.3
1.4
—
—
—
0
0
171
1346
1.45
3.38
2.7
2.5
72.62
74.74
nmol/l
0.52
161
1233
19
78
2.50
3.26
1.5
1.3
—
—
—
0
0
378
3495
1.67
3.07
20.8
13.2
139.26
139.67
mmol/l
2.14
370
3405
44
258
1.79
3.04
2.4
4.3
8.88
23.63
ug/l
0.40
32
209
14
51
2.80
3.01
2.9
3.2
16.70
16.29
%
—
8
24
9
22
4.16
2.89
2.3
2.2
13.53
20.21
ug/l
—
9
22
9
23
3.97
2.79
1.9
1.3
2.46
6.39
umol/l
—
9
23
101
743
1.47
2.77
1.9
2.3
1.07
0.97
mg/l
0.15
78
562
145
1141
1.41
2.77
3.8
3.5
36.12
32.42
u/l
0.16
138
1089
61
402
1.60
2.76
3.7
2.6
24.99
23.94
%
0.18
51
357
377
3505
1.61
2.73
20.9
13.3
3.95
3.95
mmol/l
0.11
368
3404
135
1054
1.41
2.68
3.3
3.2
20.27
30.18
ng/l
1.08
82
624
200
1669
1.37
2.66
4.7
4.5
0.00
0.00
estimate
0.50
43
320
41
246
1.74
2.64
3.7
7.1
1.83
1.37
mmol/l
0.44
28
181
200
1670
1.37
2.64
3.5
3.3
0.00
0.00
estimate
0.50
41
329
49
310
1.66
2.61
1.6
1.8
—
—
—
0
0
64
433
1.56
2.60
3.5
2.5
2.22
2.41
g/l
1.71
58
407
8
21
3.86
2.47
1.1
3.0
—
—
—
0
0
64
440
1.53
2.43
1.7
1.9
—
—
—
0
0
200
1691
1.34
2.36
3.5
3.3
0.00
0.00
estimate
-0.00
44
301
21
386
0.52
2.29
2.0
1.6
—
—
—
0
0
78
566
1.46
2.29
3.3
3.6
261.80
355.90
ng/l
0.15
50
384
7
18
3.93
2.26
4.1
2.4
0.07
0.15
nmol/l
—
7
13
22
114
1.98
2.25
1.8
1.4
—
—
—
0
0
234
2048
1.31
2.08
9.6
9.5
4.39
3.96
e9/l
1.57
203
1782
47
316
1.55
1.99
1.6
1.9
—
—
—
0
0
98
761
1.37
1.96
2.6
2.2
3.13
2.96
mg/l
0.25
87
644
6
16
3.79
1.94
1.8
1.4
—
—
—
0
0
13
58
2.28
1.92
1.8
1.7
—
—
—
0
0
11
46
2.43
1.86
1.6
1.7
—
—
—
0
0
61
446
1.43
1.73
1.9
1.6
1128.15
1209.59
nmol/l
0.29
44
340
258
2827
0.78
1.70
3.3
3.5
—
—
—
0
0
336
3137
1.33
1.63
16.1
10.4
92.78
89.72
ml/min/173m2
1.25
289
2534
25
152
1.68
1.60
2.0
3.2
1.00
0.12
e6/l
0.64
25
146
26
160
1.67
1.60
2.3
1.7
7.21
7.72
u/l
0.10
19
123
46
633
0.69
1.55
2.0
2.1
—
—
—
0
0
51
689
0.71
1.55
2.2
2.2
—
—
—
0
0
17
93
1.86
1.54
1.2
2.5
489.94
411.40
mg/l
0.60
17
88
47
337
1.44
1.50
8.8
6.8
—
—
—
0
0
150
1281
1.26
1.49
3.4
3.3
—
—
—
0
0
34
230
1.52
1.44
2.1
1.6
5.80
20.82
iu/l
11.19
24
188
197
1741
1.24
1.44
6.4
6.7
27.43
29.81
%
1.45
187
1653
9
39
2.34
1.44
1.8
1.8
—
—
—
0
0
41
567
0.69
1.43
1.3
1.3
1.09
8.74
u/ml
3.43
16
230
9
40
2.28
1.41
1.2
1.1
—
—
—
0
0
72
562
1.34
1.40
1.8
1.6
412.70
445.86
pmol/l
0.67
56
481
80
635
1.32
1.39
1.7
1.5
17.82
21.48
nmol/l
2.01
71
551
389
3736
1.43
1.39
11.2
9.3
23.62
27.65
u/l
4.85
375
3629
6
23
2.63
1.37
1.0
1.0
—
—
—
0
0
5
17
2.96
1.36
1.2
1.1
146.20
98.52
u/l
—
5
17
5
17
2.96
1.36
1.2
1.1
51.38
31.39
u/l
—
5
17
61
467
1.36
1.35
2.9
2.6
2.45
2.44
mmol/l
0.46
55
410
15
83
1.84
1.33
1.1
2.5
3.74
3.64
mmol/l
0.15
15
78
9
43
2.12
1.31
1.2
1.2
—
—
—
0
0
5
18
2.80
1.29
1.2
1.0
22.60
40.00
ng/l
—
5
8
5
18
2.80
1.29
1.6
2.8
22.00
26.44
umol/l
—
5
18
5
18
2.80
1.29
1.2
1.0
191.00
250.90
ng/l
—
5
10
5
18
2.80
1.29
2.2
1.7
—
—
—
0
0
129
1103
1.24
1.24
2.0
1.8
96.33
97.30
pmol/l
0.08
74
570
14
238
0.57
1.23
1.6
1.6
—
—
—
0
0
14
78
1.82
1.22
1.9
2.4
—
—
—
0
0
14
78
1.82
1.22
1.2
1.8
—
—
—
0
0
5
19
2.65
1.22
2.2
1.6
—
—
—
0
0
5
19
2.65
1.22
2.2
1.6
—
—
—
0
0
11
57
1.95
1.18
2.2
1.4
2.17
3.42
ug/l
0.87
11
50
0
34
0.00
1.16
0.0
1.2
—
—
—
0
0
0
34
0.00
1.16
0.0
1.2
—
—
—
0
0
5
20
2.52
1.15
2.0
3.7
0.37
1.76
ug/l
—
5
20
6
125
0.47
1.06
1.2
1.5
—
—
—
0
0
15
239
0.61
1.05
1.1
1.0
—
—
—
0
0
5
22
2.29
1.03
9.6
2.0
—
—
—
0
0
7
34
2.08
1.03
1.0
1.1
—
—
—
0
0
174
1561
1.19
1.01
3.6
2.8
103.51
95.02
ug/l
0.24
162
1461
0
29
0.00
0.98
0.0
1.0
—
—
—
0
0
88
748
1.22
0.90
2.9
3.0
331.58
4713.82
umol/l
2.37
78
673
18
120
1.52
0.86
1.3
2.3
1.40
1.37
g/l
0.08
18
105
413
4050
1.50
0.86
25.8
17.3
262.62
256.37
e9/l
1.08
402
3954
413
4050
1.50
0.86
26.1
17.4
40.61
40.77
%
0.26
388
3832
13
80
1.64
0.85
2.2
2.1
—
—
—
0
0
369
3567
1.24
0.83
17.4
11.8
25.13
21.74
mg/l
1.02
305
2689
413
4054
1.47
0.80
25.8
17.3
4.58
4.58
e12/l
0.03
402
3949
10
58
1.74
0.80
1.2
1.3
—
—
—
0
0
6
33
1.83
0.79
1.0
1.6
—
—
—
0
0
7
125
0.55
0.78
1.1
1.5
—
—
—
0
0
7
125
0.55
0.78
1.1
1.5
—
—
—
0
0
7
125
0.55
0.78
1.1
1.5
—
—
—
0
0
413
4056
1.46
0.78
26.0
17.4
135.44
137.17
g/l
1.47
408
4004
85
732
1.20
0.77
4.0
3.4
1.02
1.02
kg/l
0.72
13
103
11
67
1.66
0.76
1.1
1.3
—
—
—
0
0
11
67
1.66
0.76
1.1
1.3
—
—
—
0
0
187
1721
1.15
0.75
6.3
6.5
58.07
55.45
%
1.60
176
1632
5
24
2.10
0.74
1.8
1.6
—
—
—
0
0
20
142
1.43
0.73
1.5
1.7
—
—
—
0
0
14
92
1.54
0.73
1.6
1.9
—
—
—
0
0
7
39
1.81
0.73
1.6
2.2
499.29
529.67
e6/l
—
7
39
9
56
1.62
0.72
1.6
1.8
—
—
—
0
0
51
419
1.25
0.72
2.7
3.3
5.69
7.78
umol/l
0.86
43
362
19
134
1.44
0.72
5.6
3.9
0.49
0.66
%
2.21
19
134
12
182
0.65
0.72
2.7
1.8
—
—
—
0
0
7
40
1.76
0.71
1.0
1.1
—
—
—
0
0
7
41
1.72
0.70
1.0
1.1
—
—
—
0
0
25
187
1.36
0.70
1.6
2.3
321.10
2963.54
u/l
—
7
74
5
91
0.54
0.67
2.0
1.2
—
—
—
0
0
5
28
1.79
0.66
1.6
1.2
—
—
—
0
0
8
128
0.62
0.65
1.6
1.6
—
—
—
0
0
5
29
1.73
0.64
4.8
3.9
—
—
—
0
0
38
307
1.26
0.63
3.8
5.2
229.39
251.41
u/l
0.59
38
297
8
49
1.64
0.62
1.9
1.9
—
—
—
0
0
256
2429
1.13
0.61
3.3
3.1
39.76
42.65
u/l
0.33
245
2309
8
51
1.58
0.60
1.5
2.9
12.25
34.80
u/ml
—
8
51
331
3196
1.15
0.60
4.0
3.8
5.62
5.79
mmol/l
2.64
304
2961
309
2972
1.14
0.58
4.6
4.9
37.19
38.77
mmol/mol
2.54
285
2803
12
81
1.50
0.57
1.2
2.2
13.64
10.09
mg/l
0.62
12
76
261
2486
1.13
0.57
3.8
3.9
11.45
9.70
mm/h
1.17
243
2307
99
890
1.15
0.54
1.6
1.7
1.31
1.37
mmol/l
0.35
93
768
6
38
1.59
0.54
1.0
1.1
—
—
—
0
0
281
2694
1.12
0.53
4.8
3.8
14.83
14.55
pmol/l
1.08
260
2475
13
91
1.44
0.53
1.7
1.8
—
—
—
0
0
51
593
0.84
0.52
1.3
1.3
18.79
34.67
iu/ml
1.42
17
191
14
100
1.41
0.52
1.2
1.1
—
—
—
0
0
7
50
1.41
0.45
1.6
1.9
—
—
—
0
0
7
50
1.41
0.45
1.6
1.9
—
—
—
0
0
7
51
1.38
0.44
1.3
1.8
—
—
—
0
0
29
348
0.82
0.43
3.6
4.0
32.73
31.56
%
0.25
22
243
5
31
1.62
0.43
1.8
1.8
—
—
—
0
0
5
31
1.62
0.43
1.4
1.7
—
—
—
0
0
5
31
1.62
0.43
1.4
1.7
—
—
—
0
0
5
31
1.62
0.43
1.4
1.7
—
—
—
0
0
311
3198
0.90
0.41
3.9
3.6
1.21
1.27
mmol/l
0.71
284
2996
18
141
1.29
0.41
1.3
1.3
—
—
—
0
0
13
98
1.34
0.38
1.2
1.1
—
—
—
0
0
27
226
1.21
0.37
1.4
1.3
—
—
—
0
0
9
71
1.27
0.36
1.7
1.2
—
—
—
0
0
324
3315
0.91
0.35
4.2
3.9
1.45
1.45
mmol/l
0.02
301
3117
10
73
1.38
0.35
1.6
1.8
—
—
—
0
0
6
44
1.37
0.34
1.3
1.9
—
—
—
0
0
12
92
1.31
0.32
2.1
1.6
2.59
6.16
iu/l
—
6
30
7
52
1.35
0.31
1.0
1.1
—
—
—
0
0
90
967
0.91
0.30
1.4
1.4
1.22
2.00
u/ml
0.43
20
247
12
151
0.79
0.28
1.2
1.4
168.40
267.50
miu/ml
—
5
73
66
606
1.11
0.28
3.9
3.9
23.88
22.19
%
0.41
32
255
8
63
1.27
0.28
1.5
1.4
—
—
—
0
0
15
122
1.24
0.27
1.0
1.1
—
12.72
—
0
16
8
65
1.24
0.27
2.0
1.4
—
—
—
0
0
8
65
1.24
0.27
1.3
1.1
—
—
—
0
0
81
754
1.09
0.27
4.3
4.2
2.14
1.79
ug/l
0.52
76
677
8
67
1.20
0.26
1.6
1.9
—
—
—
0
0
8
67
1.20
0.26
1.6
1.9
—
—
—
0
0
6
82
0.73
0.24
1.7
2.3
—
—
—
0
0
12
147
0.81
0.23
1.7
1.7
—
—
—
0
0
25
284
0.87
0.22
2.0
1.3
115.31
159.10
iu/ml
0.37
14
120
5
42
1.19
0.21
1.0
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
9.88
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
8
103
0.77
0.21
2.5
1.8
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
9
115
0.78
0.20
1.6
1.8
—
240.00
—
0
7
328
3327
0.94
0.19
4.3
3.9
4.68
4.70
mmol/l
0.10
304
3143
11
132
0.83
0.18
1.3
1.1
—
—
—
0
0
35
382
0.91
0.18
2.2
2.0
—
—
—
0
0
5
69
0.72
0.17
1.8
1.1
—
—
—
0
0
10
120
0.83
0.17
1.4
2.3
—
—
—
0
0
6
77
0.78
0.15
1.3
1.1
—
—
—
0
0
6
78
0.77
0.15
1.2
1.2
—
—
—
0
0
10
119
0.84
0.15
1.2
1.7
—
—
—
0
0
12
102
1.18
0.15
1.1
1.8
201.00
210.97
u/ml
—
6
61
332
3359
0.95
0.15
4.6
4.3
2.85
2.82
mmol/l
0.25
307
3150
7
90
0.77
0.14
1.4
1.6
—
—
—
0
0
89
927
0.95
0.14
1.6
1.7
—
—
—
0
0
12
106
1.14
0.10
1.1
1.7
—
—
—
0
0
5
45
1.11
0.10
1.0
1.4
—
—
—
0
0
324
3211
1.04
0.09
5.3
4.4
1.86
1.85
mu/l
0.07
302
2997
55
528
1.05
0.09
2.8
1.8
1.29
1.42
%
0.79
48
473
80
823
0.97
0.08
3.9
3.9
5.38
11.46
mg/mmol
1.90
64
532
6
75
0.80
0.07
1.3
1.2
—
1.08
—
0
5
12
109
1.10
0.06
1.5
1.5
—
—
—
0
0
17
158
1.08
0.06
2.1
1.6
—
—
—
0
0
43
443
0.97
0.04
2.5
2.7
0.72
0.74
ug/l
0.06
29
264
11
103
1.07
0.02
2.0
2.0
—
—
—
0
0
13
125
1.04
0.00
1.5
1.5
0.21
0.23
g/l
0.43
13
118
15
145
1.04
0.00
1.3
2.1
34.91
40.31
u/l
0.55
15
132
12
121
0.99
0.00
1.3
1.3
—
—
—
0
0
13
129
1.01
0.00
1.5
1.5
1.00
1.19
g/l
1.81
13
120
31
309
1.00
0.00
2.0
1.9
—
—
—
0
0
58
585
0.99
0.00
1.5
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
7
73
0.96
0.00
1.9
1.2
—
—
—
0
0
5
54
0.93
0.00
1.4
1.0
1.58
1.35
g/l
—
5
49
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
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
6.3
—
—
—
0
0
6
63
0.95
-0.00
1.8
1.4
1968.67
8898.96
e6/l
—
6
48
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
6.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
9
98
0.92
-0.00
2.2
1.8
—
—
—
0
0
6
68
0.88
-0.00
2.7
7.5
—
2749.80
—
0
10
8
80
1.00
-0.00
4.1
9.0
—
387.38
—
0
16
0
5
0.00
-0.00
0.0
1.2
—
259.20
—
0
5
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED | 2.597 [2.1, 3.21] | < 0.001 |
| Birth year | 0.996 [0.99, 1.01] | 0.496 |
During the follow-up period (1.1.1998 — 31.12.2019), 166 out of 1530 females with Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED | 2.467 [1.98, 3.07] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.006 |
During the follow-up period (1.1.1998 — 31.12.2019), 195 out of 1477 males with Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED died.
Mortality risk
Mortality risk for people of age
years, who have Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.235% | 0.449% |
| 5 | 1.518% | 2.752% |
| 10 | 3.83% | 7.147% |
| 15 | 7.45% | 12.817% |
| 20 | 13.17% | 20.695% |
Relationships between endpoints
↥Index endpoint: Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED – Phakomatoses, not elsewhere classified
GWS hits: 3
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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