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 |
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. |
464 |
4. Check minimum number of eventsNone |
464 |
5. Include endpointsNone |
464 |
6. Filter based on genotype QC (FinnGen only) |
413 |
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, including avohilmo
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- 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 | 413 | 237 | 176 |
| Unadjusted period prevalence (%) | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | 37.87 | 38.04 | 37.65 |
-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
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
- 439
- Matched controls
- 4390
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q85.00
ICD-10 Finland
Neurofibromatosis, type 1
+∞
300.9
253
*
Z31.5
ICD-10 Finland
Genetic counselling
20.2
202.6
189
158
Q85.09
ICD-10 Finland
Unspecified neurofibromatosis
+∞
196.0
173
*
Q85.0
ICD-10 Finland
Neurofibromatosis (nonmalignant)
+∞
110.2
101
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
8.4
85.8
138
228
Q85.1
ICD-10 Finland
Tuberous sclerosis
+∞
80.8
75
*
Q85.01
ICD-10 Finland
Neurofibromatosis, type 2
+∞
75.2
70
*
QBE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin of trunk
9.4
72.6
98
130
Z01.0
ICD-10 Finland
Examination of eyes and vision
5.3
60.6
175
492
2377A
ICD-9 Finland
Neoplasm of uncertain behaviour of endocrine glands and nervous system, Neurofibromatosis
+∞
57.6
54
*
QAE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in head or neck
7.9
54.8
84
128
QDE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in lower limb
12.7
50.9
52
46
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
9.4
43.4
55
66
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
7.1
41.7
69
113
74340
ICD-8 Finland
Other congenital anomalies of nervous system, Neurofibromatosis
+∞
39.1
37
*
QCE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in upper limb
11.5
38.1
41
39
Q85.9
ICD-10 Finland
Phakomatosis, unspecified
+∞
35.9
34
*
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
13.6
35.3
34
27
XCK00
NOMESCO Finland
Perimetry
7.0
35.3
58
94
ZXC10
NOMESCO Finland
Use of laser
10.3
32.8
38
40
Q85.82
ICD-10 Finland
of Hipple-Lindau syndrome
+∞
32.7
31
*
D37.7
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Other digestive organs
11.4
29.0
31
29
QAA25
NOMESCO Finland
Destruction of lesion of head or neck
11.0
27.4
30
29
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
4.8
26.9
67
159
D33.30
ICD-10 Finland
Acoustic neuroma
35.5
25.9
33
10
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
8.4
24.6
33
42
N03AF02
ATC
oxcarbazepine; oral
6.4
24.3
42
71
G40.9
ICD-10 Finland
Epilepsy, unspecified
6.6
22.8
38
62
G40.22
ICD-10 Finland
Complex partial epileptic seizure with secondary generalization
8.8
22.5
29
35
N03AX14
ATC
levetiracetam; systemic
7.3
22.4
34
50
D41.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Kidney
9.2
21.8
27
31
D36.1
ICD-10 Finland
Benign neoplasm: Peripheral nerves and autonomic nervous system
63.3
21.1
24
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.6
20.9
189
985
NDR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of wrist or hand
21.4
20.7
30
15
ZXD10
NOMESCO Finland
Scheduled procedure
2.5
19.6
194
1047
AA1CM
NOMESCO Finland
Extensive MRI examination of brain with 3 Tesla magnet
8.8
19.4
25
30
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
15.1
18.9
31
22
AAB00
NOMESCO Finland
Extirpation of intracranial lesion
19.1
18.0
27
15
ZXE20
NOMESCO Finland
More than three and less than five hours
3.1
17.8
84
308
WX408
NOMESCO Finland
General anesthesy, balanced
2.5
17.6
150
748
TQW99
NOMESCO Finland
Other minor procedure on skin
5.0
17.4
39
84
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
3.8
17.2
58
171
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.6
17.0
124
572
XCW99
NOMESCO Finland
Other investigative procedure of eye
3.6
17.0
61
188
Q85.88
ICD-10 Finland
Other phakomatoses, not elsewhere classified
+∞
16.8
16
*
R4120
NOMESCO Finland
Occupational therapy
3.9
16.7
53
150
Q82.50
ICD-10 Finland
Naevus flammeus
176.4
16.6
17
*
ACB19
NOMESCO Finland
Excision of lesion of peripheral nerve other or unspecified
41.8
16.5
20
5
NA1CG
NOMESCO Finland
Cervical spine extensive MRI examination with high intensity magnet
7.4
16.3
24
34
XA800
NOMESCO Finland
Neuropsychological investigation
4.0
16.0
49
135
Q85.80
ICD-10 Finland
Peutz-Jegher syndrome
+∞
15.7
15
*
ABB00
NOMESCO Finland
Excision of lesion of spinal canal
82.9
14.7
16
*
WX002
NOMESCO Finland
Sedation and analgesia
2.6
14.2
96
423
TPH07
NOMESCO Finland
Cathetrisation of artery
3.2
14.2
63
221
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.7
14.1
84
348
QBA25
NOMESCO Finland
Destruction of lesion of skin of trunk
13.3
14.1
24
19
WX302
NOMESCO Finland
Thoracal epidural anesthesy
4.6
14.1
34
78
QAA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of head or neck
55.2
13.9
16
*
XCK10
NOMESCO Finland
Photography of fundus of eye
3.4
13.7
54
176
WX402
NOMESCO Finland
General anaesthesia
2.3
13.7
133
692
ZXC07
NOMESCO Finland
Carbon dioxide laser
77.6
13.7
15
*
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.6
13.2
87
378
D48.1
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Connective and other soft tissue
6.4
13.1
22
36
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
25.2
12.6
17
7
QDA25
NOMESCO Finland
Destruction of lesion of skin of lower limb
133.7
12.5
13
*
D23.5
ICD-10 Finland
Benign neoplasm: Skin of trunk
5.0
12.3
27
57
ZXC12
NOMESCO Finland
Pulse colorlaser
38.7
12.3
15
*
Q82.58
ICD-10 Finland
Congenital non-neoplastic naevus
38.7
12.3
15
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
2.8
12.3
68
270
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.1
12.1
34
88
ZXA00
NOMESCO Finland
Right side
2.3
12.0
116
599
QXA25
NOMESCO Finland
Destruction of lesion of skin, site unspecified
6.1
11.9
21
36
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
9.3
11.9
24
27
D48.9
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Neoplasm of uncertain or unknown behaviour, unspecified
9.3
11.9
24
27
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.0
11.7
201
1291
D33.45
ICD-10 Finland
Benign Schwannom in the nerve root of the spinal cord
66.8
11.7
13
*
181
Kela drug reimbursment
Retigabine and vigabatrin
66.8
11.7
13
*
183
Kela drug reimbursment
Lamotrigin and topiramate
10.5
11.6
22
22
D32.1
ICD-10 Finland
Benign neoplasm: Spinal meninges
+∞
11.5
11
*
L81.3
ICD-10 Finland
Café au lait spots
+∞
11.5
11
*
QBA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of trunk
123.1
11.5
12
*
ZXE00
NOMESCO Finland
One hour or less
2.0
11.3
185
1165
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.5
11.2
78
347
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
3.5
11.1
39
118
9736
FHL
Subcutaneous tumor removal in operating room or anesthesia
22.1
10.7
15
7
KA1AE
NOMESCO Finland
Kidney ultrasound examination
8.3
10.7
23
29
D18.0
ICD-10 Finland
Haemangioma, any site
5.5
10.7
21
40
ABB10
NOMESCO Finland
Resection of lesion of spinal canal
61.5
10.7
12
*
SPAT1229
SPAT
Assessment of need for aid
3.9
10.6
32
87
D33.14
ICD-10 Finland
Hemangioblastoma and cerebellum
+∞
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
*
Q85.83
ICD-10 Finland
Gardner syndrome
+∞
10.5
10
*
QXA40
NOMESCO Finland
Skin laser treatment or photocoagulation, unspecified location
+∞
10.5
10
*
G40.10
ICD-10 Finland
Simple partial seizures
16.5
10.4
16
10
AAB10
NOMESCO Finland
Partial excision of intracranial lesion
11.0
10.4
19
18
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.1
10.3
120
663
N05BA09
ATC
clobazam; oral
11.7
10.1
18
16
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.2
10.1
41
136
D32.00
ICD-10 Finland
Benign tumor of the meninges on the outer surface of the cerebrum
15.0
10.1
16
11
JN1CG
NOMESCO Finland
Extensive MRI examination of upper part of abdomen with high intensity magnet
5.3
9.9
20
39
N03AG04
ATC
vigabatrin; oral
26.7
9.9
13
5
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
2.4
9.8
74
341
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
3.4
9.7
35
108
D30.0
ICD-10 Finland
Benign neoplasm: Kidney
18.0
9.5
14
8
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
102.2
9.4
10
*
NK1AT
NOMESCO Finland
Muscle biopsy with ultrasound guidance
30.8
9.4
12
*
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
*
Z3226
NOMESCO Finland
Physiotherapist
2.2
9.4
95
495
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
11.0
9.4
17
16
Z3229
NOMESCO Finland
Other healthcare associate professional
2.9
9.3
46
171
N03AG01
ATC
valproic acid; systemic, rectal
3.0
9.2
42
149
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
14.1
9.2
15
11
D21.1
ICD-10 Finland
Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder
11.8
9.1
16
14
N03AX16
ATC
[U] pregabalin
2.1
9.1
99
530
N03AF01
ATC
carbamazepine; oral, rectal
3.5
9.1
31
92
JN3BD
NOMESCO Finland
Extensive abdominal CT
2.7
9.0
49
192
QBB10
NOMESCO Finland
Major dressing of wound of skin of trunk
4.1
9.0
25
64
9560/0-C72.4
ICD-O-3
Schwannoma, NOS, of acoustic nerve
24.6
9.0
12
5
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
11.0
8.9
16
15
C64.88
ICD-10 Finland
Other malignant neoplasm of kidney, except renal pelvis
9.8
8.8
17
18
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
4.7
8.7
20
44
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
2.8
8.5
45
174
JN1DG
NOMESCO Finland
Very extensive MRI examination of upper part of abdomen with high intensity magnet
6.9
8.5
20
30
QDA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of lower limb
91.8
8.4
9
*
AA1AD
NOMESCO Finland
CT of head and brain
2.0
8.4
113
653
D33.42
ICD-10 Finland
Hemangioblastoma of the spinal cord
+∞
8.4
8
*
9161/1-C71.6
ICD-O-3
Hemangioblastoma of cerebellum, NOS
+∞
8.4
8
*
EP1CG
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with high intesity magnet
11.0
8.4
15
14
WX602
NOMESCO Finland
Repeated or continuing anesthesia shots throug a catheter
2.5
8.3
54
231
CS444
NOMESCO Finland
Visual field testing with Octopus automated perimetry
4.4
8.3
21
50
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.3
8.2
64
298
ZXA10
NOMESCO Finland
Bilateral
2.2
8.2
79
403
JFB00
NOMESCO Finland
Partial resection of small intestine
10.3
8.1
15
15
R4110
NOMESCO Finland
Physiotherapy
1.9
8.0
128
783
SPAT1153
SPAT
Removal of sutures
1.9
7.9
127
776
JN3DG
NOMESCO Finland
Very extensive MRI examination with high intensity magnet
13.4
7.9
13
10
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
13.4
7.9
13
10
D17.1
ICD-10 Finland
Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk
4.2
7.9
21
52
D12.6
ICD-10 Finland
Benign neoplasm: Colon, unspecified
3.5
7.8
27
81
D33.39
ICD-10 Finland
Benign tumor of the cranial nerves UNS
45.8
7.7
9
*
D37.2
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Small intestine
18.8
7.6
11
6
G40.19
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures
12.1
7.6
13
11
JF1AB
NOMESCO Finland
Passage examination of small bowell with X-ray
9.1
7.6
15
17
H52.2
ICD-10 Finland
Astigmatism
4.0
7.5
21
54
TPH04
NOMESCO Finland
Cathetrisation of vein
2.0
7.4
96
544
QCA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of upper limb
81.4
7.4
8
*
R22.0
ICD-10 Finland
Localized swelling, mass and lump, head
4.3
7.3
19
46
R56.8
ICD-10 Finland
Other and unspecified convulsions
2.9
7.3
34
122
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
2.7
7.3
41
163
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
*
C72.3
ICD-10 Finland
Malignant neoplasm: Optic nerve
+∞
7.3
7
*
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
*
D33.00
ICD-10 Finland
Medial pilosytic astrocytoma of the cerebrum
+∞
7.3
7
*
340
Kela drug reimbursment
Everolimus
+∞
7.3
7
*
Z3231
NOMESCO Finland
Registered nurse
1.8
7.2
129
814
H47.2
ICD-10 Finland
Optic atrophy
30.6
7.2
9
*
XCD10
NOMESCO Finland
Electrophysiological examination of eye
5.8
7.1
19
34
Z80.0
ICD-10 Finland
Family history of malignant neoplasm of digestive organs
9.0
7.1
14
16
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
2.8
7.1
36
136
R1250
NOMESCO Finland
Evaluation of functional capability
4.3
7.1
18
43
JN3CG
NOMESCO Finland
Extensive MRI examination of abdomen with high intensity magnet
10.3
7.1
13
13
D23.3
ICD-10 Finland
Benign neoplasm: Skin of other and unspecified parts of face
4.5
7.0
17
39
K56.6
ICD-10 Finland
Other and unspecified intestinal obstruction
6.0
7.0
18
31
CA1CG
NOMESCO Finland
Eye and orbita extensive MRI examination with high intensity magnet
14.1
6.9
11
8
M05BA04
ATC
alendronic acid; oral
3.0
6.9
30
104
N05BA01
ATC
diazepam; systemic, rectal
2.2
6.9
58
279
QXE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in uspecified region
11.2
6.8
12
11
JDW98
NOMESCO Finland
Other transluminal endoscopic operation on stomach or duodenum
9.5
6.8
13
14
ZXA05
NOMESCO Finland
Left side
1.9
6.8
93
536
UJF32
NOMESCO Finland
Coloscopy
1.9
6.8
99
583
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
3.3
6.8
25
78
NA1DG
NOMESCO Finland
Cervical spine very extensive MRI examination with high intensity magnet
40.7
6.8
8
*
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
*
N05CD08
ATC
midazolam; nasal, systemic
4.1
6.7
18
45
JN3AD
NOMESCO Finland
Abdominal CT examination
2.2
6.6
60
298
HA1AE
NOMESCO Finland
Ultrasound examination of mammary glands
2.7
6.5
35
136
S18
ICPC
Laceration/cut
1.7
6.5
200
1459
JFA98
NOMESCO Finland
Other transluminal endoscopic local operation on intestine
6.3
6.5
16
26
QX2XE
NOMESCO Finland
Ultrsound examination of soft tissue not elsewhere classified
3.6
6.5
21
60
ZQX00
NOMESCO Finland
0-4% of the skin
70.8
6.4
7
*
C25.4
ICD-10 Finland
Malignant neoplasm: Endocrine pancreas
70.8
6.4
7
*
D33.4
ICD-10 Finland
Benign neoplasm: Spinal cord
70.8
6.4
7
*
D48.2
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Peripheral nerves and autonomic nervous system
70.8
6.4
7
*
D13.2
ICD-10 Finland
Benign neoplasm: Duodenum
14.6
6.4
10
7
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
*
QDE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of lower limb
+∞
6.3
6
*
D33.10
ICD-10 Finland
Benign pilosytic astrocytoma of brain stem
+∞
6.3
6
*
D33.3
ICD-10 Finland
Benign neoplasm: Cranial nerves
+∞
6.3
6
*
UJF92
NOMESCO Finland
Capsular endoscopy
5.2
6.2
18
36
NA3DG
NOMESCO Finland
Lumbar spine very extensive MRI examination with high intensity magnet
27.1
6.2
8
*
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)
2.1
6.2
65
340
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.2
6.2
56
277
D43.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Brain, supratentorial
12.8
6.1
10
8
L98.9
ICD-10 Finland
Disorder of skin and subcutaneous tissue, unspecified
8.8
6.1
12
14
DE2CG
NOMESCO Finland
Acoustic channel extensive MRI examination with high intensity magnet
6.8
6.1
14
21
D44.1
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Adrenal gland
10.2
6.1
11
11
QBE99
NOMESCO Finland
Other excision or repair of lesion of skin of trunk
6.2
6.0
15
25
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
43
45
10.48
37.41
4.0
1.4
0.21
0.18
nmol/l
0.44
32
32
92
349
3.07
18.38
7.0
11.4
0.06
1.00
mmol/l
1.10
75
293
91
355
2.97
17.24
7.1
11.2
5.05
5.18
kpa
0.59
86
342
250
1583
2.35
16.90
8.8
8.1
1.20
1.22
mmol/l
2.10
240
1467
110
500
2.60
15.42
7.8
8.2
1.05
1.09
mmol/l
0.78
104
472
259
1747
2.18
13.98
10.1
8.3
1.20
1.22
mmol/l
1.56
234
1516
61
260
2.56
9.51
4.9
5.1
105.16
75.02
ng/l
0.60
52
236
161
1036
1.87
8.68
3.6
3.2
0.96
0.37
e6/l
0.49
136
724
209
1468
1.81
8.42
6.9
5.6
36.32
36.83
g/l
0.65
197
1392
233
1693
1.80
8.36
3.4
2.8
—
—
estimate
—
0
0
18
25
7.46
8.04
1.8
1.8
—
—
—
0
0
29
91
3.34
7.81
2.0
1.6
—
—
—
0
0
272
2100
1.78
7.65
6.9
5.6
6.26
6.47
mmol/l
1.24
267
1975
84
459
2.03
7.20
10.3
8.1
104.61
104.33
mmol/l
0.18
84
459
138
904
1.77
6.71
2.8
2.4
—
—
—
0
0
67
346
2.11
6.66
2.6
2.9
0.22
0.22
g/l
0.43
62
323
55
267
2.21
6.38
2.7
2.6
76.83
72.63
ml/min/173m2
0.30
24
115
95
576
1.83
5.90
3.4
2.7
12.56
13.97
umol/l
1.16
89
544
11
12
9.37
5.82
2.5
2.3
25.25
19.23
umol/l
0.53
11
12
104
652
1.78
5.78
3.1
2.8
0.92
0.79
e6/l
0.16
62
324
70
388
1.96
5.71
4.5
6.0
1.46
1.67
mmol/l
0.20
58
326
326
2753
1.72
5.69
8.9
7.8
80.14
80.09
u/l
0.01
311
2619
241
1892
1.61
5.58
7.1
6.7
10.15
12.29
umol/l
2.50
226
1805
97
607
1.77
5.40
3.2
3.0
4.21
2.32
e6/l
0.89
55
282
156
1117
1.62
5.21
3.0
2.7
61.25
67.16
u/l
0.26
144
1050
27
107
2.62
4.89
2.5
7.0
24.67
24.48
mmol/l
0.10
27
107
80
498
1.74
4.49
3.6
2.7
22.57
23.62
%
0.29
74
474
17
56
3.12
4.28
3.0
3.4
16.62
16.71
%
0.03
17
56
52
290
1.90
4.17
2.3
4.4
8.14
22.09
ug/l
0.43
36
233
155
1164
1.51
3.99
3.7
3.2
2.36
2.36
mmol/l
0.02
145
1072
46
256
1.89
3.72
3.7
7.0
1.62
1.31
mmol/l
0.30
33
191
25
110
2.35
3.69
1.8
1.4
219.06
313.30
ug/g
1.45
17
61
118
853
1.52
3.58
1.9
2.2
1.02
1.06
mg/l
0.05
89
648
81
540
1.61
3.49
3.7
2.6
2.26
2.38
g/l
1.28
74
509
157
1223
1.44
3.23
3.7
3.3
19.47
84.51
ng/l
0.66
104
759
136
1037
1.45
3.12
3.9
3.8
0.00
0.01
estimate
0.80
49
382
52
318
1.72
3.11
4.4
3.2
—
—
—
0
0
32
169
1.96
3.04
1.3
1.4
—
—
—
0
0
236
1992
1.40
3.03
3.8
3.6
0.02
0.00
estimate
0.40
54
405
40
231
1.80
2.91
1.9
1.6
—
—
—
0
0
21
96
2.25
2.88
1.7
1.3
—
—
—
0
0
44
263
1.75
2.86
2.0
2.9
0.76
0.17
e6/l
0.77
44
250
237
2015
1.38
2.84
3.8
3.6
0.00
4.03
estimate
0.50
52
403
17
71
2.45
2.83
1.7
1.6
—
—
—
0
0
109
813
1.45
2.78
2.6
3.5
767.81
822.22
ng/l
0.08
102
672
238
2031
1.38
2.76
3.8
3.6
0.00
0.80
estimate
0.50
53
381
60
394
1.61
2.75
1.7
1.9
—
—
—
0
0
9
24
3.81
2.68
1.3
3.7
638.78
925.17
mg
—
9
24
75
522
1.53
2.68
1.8
2.0
—
—
—
0
0
119
917
1.41
2.52
2.8
2.2
2.80
2.76
mg/l
0.06
108
790
22
111
2.03
2.40
1.3
2.3
558.95
434.23
mg/l
0.78
22
106
90
666
1.44
2.38
3.7
3.7
245.76
378.25
ng/l
0.26
58
455
8
22
3.68
2.37
4.0
2.2
0.07
0.16
nmol/l
—
8
16
7
17
4.17
2.37
1.7
1.4
—
—
—
0
0
31
514
0.57
2.37
1.9
1.9
3.88
3.55
ratio
0.81
22
394
257
2255
1.34
2.32
10.2
10.4
4.34
3.95
e9/l
1.57
223
1946
22
397
0.53
2.25
1.6
1.7
3.68
3.47
mmol/l
0.44
13
281
56
381
1.54
2.23
1.8
1.9
—
—
—
0
0
163
1347
1.33
2.19
4.2
3.5
31.79
31.11
u/l
0.03
154
1281
20
101
2.03
2.19
1.6
2.4
2.93
12.97
e6/l
0.70
14
70
198
1683
1.32
2.19
3.0
2.7
73.42
74.56
nmol/l
0.26
188
1556
396
3750
1.57
2.12
24.3
15.5
139.23
139.71
mmol/l
2.96
389
3681
396
3751
1.57
2.11
24.3
15.6
3.96
3.95
mmol/l
0.41
389
3669
19
96
2.02
2.08
3.0
2.7
0.63
2.69
index
—
8
58
22
120
1.88
1.96
1.9
1.4
—
—
—
0
0
18
92
2.00
1.93
1.7
1.5
—
—
—
0
0
116
933
1.33
1.84
1.8
1.6
17.36
21.14
nmol/l
2.89
100
805
50
693
0.69
1.74
1.3
1.3
0.99
9.47
u/ml
4.19
20
281
18
97
1.89
1.68
2.2
2.5
—
—
—
0
0
62
458
1.41
1.67
1.9
1.6
1128.15
1208.99
nmol/l
0.29
44
351
6
19
3.19
1.66
2.0
1.6
—
—
—
0
0
175
1506
1.27
1.64
3.5
3.3
0.00
0.01
estimate
0.88
44
344
367
3462
1.37
1.64
18.9
12.5
90.99
89.25
ml/min/173m2
0.61
332
3129
52
705
0.70
1.61
2.1
2.2
—
—
—
0
0
14
70
2.03
1.61
1.6
1.7
—
—
—
0
0
18
99
1.85
1.59
1.1
2.3
3.75
3.63
mmol/l
0.23
18
94
57
759
0.71
1.59
2.2
2.3
—
—
—
0
0
6
20
3.03
1.58
2.2
1.7
—
—
—
0
0
6
20
3.03
1.58
2.0
1.6
—
—
—
0
0
17
93
1.86
1.53
1.2
2.3
14.04
10.72
mg/l
0.88
17
88
11
51
2.19
1.51
1.2
1.0
—
—
—
0
0
13
65
2.03
1.50
4.9
4.3
12.69
8.31
pmol/l
0.41
13
65
48
347
1.43
1.47
8.8
6.8
—
—
—
0
0
62
473
1.36
1.40
2.9
3.4
5.35
7.31
umol/l
0.95
50
414
104
855
1.28
1.39
3.2
3.1
330.24
329.96
umol/l
0.01
93
776
14
75
1.90
1.36
1.8
3.7
1.36
2.41
ratio
—
6
36
0
39
0.00
1.34
0.0
1.2
—
—
—
0
0
11
54
2.06
1.34
1.7
1.7
—
—
—
0
0
26
170
1.56
1.29
1.6
1.6
—
—
—
0
0
6
25
2.42
1.24
1.0
1.0
—
—
—
0
0
6
25
2.42
1.24
1.7
1.6
—
—
—
0
0
8
37
2.18
1.22
1.0
1.1
—
—
—
0
0
16
261
0.60
1.21
1.1
1.0
—
—
—
0
0
13
71
1.86
1.20
1.5
1.4
—
—
—
0
0
79
641
1.28
1.18
1.8
1.7
408.07
448.07
pmol/l
0.94
60
553
5
20
2.52
1.15
1.4
1.2
144.80
94.09
u/l
—
5
20
5
20
2.52
1.15
1.4
1.2
51.38
28.29
u/l
—
5
20
12
65
1.87
1.14
2.2
1.5
2.25
3.23
ug/l
0.72
12
57
17
104
1.66
1.11
1.5
1.4
212.12
207.25
pmol/l
0.01
17
99
7
31
2.28
1.11
1.4
1.2
—
—
—
0
0
273
2918
0.83
1.10
3.3
3.5
—
—
—
0
0
27
189
1.46
1.02
2.5
1.7
7.17
7.81
u/l
0.13
20
142
161
1436
1.19
0.99
2.1
2.0
94.73
97.83
pmol/l
0.34
92
741
5
23
2.19
0.98
2.2
3.5
0.37
1.55
ug/l
—
5
23
39
295
1.35
0.96
2.2
1.6
7.64
20.13
iu/l
7.69
28
238
0
32
0.00
0.95
0.0
2.3
—
1.95
—
0
10
14
85
1.67
0.95
1.2
1.8
—
—
—
0
0
18
117
1.56
0.95
1.6
1.9
—
—
—
0
0
9
51
1.78
0.95
1.3
1.3
—
—
—
0
0
103
884
1.22
0.95
3.9
3.5
1.02
1.02
kg/l
0.75
65
565
11
62
1.79
0.95
1.7
1.7
—
—
—
0
0
6
27
2.24
0.94
1.0
1.6
—
—
—
0
0
13
78
1.69
0.92
1.5
4.3
30.23
36.96
umol/l
0.91
13
72
12
194
0.61
0.91
2.7
1.8
—
—
—
0
0
359
3447
1.23
0.90
4.6
4.4
5.64
5.80
mmol/l
2.21
335
3218
292
2755
1.18
0.88
4.2
4.2
10.79
9.67
mm/h
0.72
274
2589
8
44
1.83
0.86
1.0
1.1
—
—
—
0
0
209
1923
1.17
0.86
4.1
3.1
93.23
95.29
ug/l
0.06
195
1824
392
3810
1.27
0.80
19.7
13.6
25.43
22.00
mg/l
1.09
334
2993
30
390
0.75
0.76
3.9
4.4
33.00
31.53
%
0.34
23
266
5
24
2.10
0.74
1.2
1.1
22.60
43.85
ng/l
—
5
13
5
24
2.10
0.74
1.2
1.0
191.00
310.47
ng/l
—
5
15
8
133
0.59
0.74
1.1
1.5
—
—
—
0
0
5
25
2.01
0.73
9.6
2.3
—
—
—
0
0
7
39
1.81
0.73
1.6
2.2
0.50
0.53
e9/l
—
7
39
9
56
1.62
0.72
1.6
1.8
—
—
—
0
0
25
186
1.36
0.71
5.2
4.2
0.50
0.61
%
1.83
25
186
16
110
1.47
0.69
1.6
1.7
—
—
—
0
0
11
69
1.61
0.69
1.1
1.3
—
—
—
0
0
11
69
1.61
0.69
1.1
1.3
—
—
—
0
0
330
3420
0.86
0.68
4.3
3.9
1.22
1.26
mmol/l
0.59
305
3211
5
94
0.53
0.67
2.0
1.2
—
—
—
0
0
7
43
1.64
0.67
1.0
1.1
—
—
—
0
0
5
28
1.79
0.66
1.6
3.8
74.40
96.11
%
—
5
28
5
28
1.79
0.66
1.0
1.7
3.80
4.69
mg/l
—
5
28
65
757
0.83
0.66
1.3
1.3
19.42
32.05
iu/ml
1.17
18
223
350
3609
0.85
0.66
4.8
4.6
1.44
1.45
mmol/l
0.14
327
3405
20
146
1.39
0.65
4.0
3.5
25.03
24.67
mmol/l
0.20
20
140
405
3967
1.27
0.64
13.2
11.0
23.62
27.53
u/l
4.96
393
3881
8
54
1.49
0.57
1.3
2.0
—
—
—
0
0
6
37
1.63
0.55
1.0
1.5
—
—
—
0
0
355
3642
0.87
0.53
5.5
5.2
2.78
2.77
mmol/l
0.09
333
3440
14
100
1.41
0.52
1.3
1.3
—
1.03
—
0
6
13
180
0.71
0.52
1.2
1.4
159.50
262.42
miu/ml
—
6
87
172
1606
1.12
0.51
1.8
1.9
1.28
1.36
mmol/l
0.86
151
1402
15
109
1.39
0.51
2.1
1.9
2.08
4.48
iu/l
—
9
43
29
234
1.26
0.51
1.7
1.3
—
—
—
0
0
124
1137
1.13
0.51
2.9
3.0
0.00
0.08
estimate
0.58
46
333
7
47
1.50
0.47
1.3
2.1
—
—
—
0
0
281
2706
1.11
0.45
3.7
3.4
40.33
42.55
u/l
0.26
270
2587
21
166
1.28
0.44
1.3
1.3
—
—
—
0
0
14
104
1.36
0.43
1.2
1.1
—
—
—
0
0
21
167
1.27
0.42
1.2
2.2
35.84
40.28
u/l
0.52
21
152
33
277
1.21
0.42
1.5
1.5
—
—
—
0
0
5
32
1.57
0.42
1.4
1.7
—
—
—
0
0
5
32
1.57
0.42
1.4
1.7
—
—
—
0
0
5
32
1.57
0.42
1.4
1.7
—
—
—
0
0
8
57
1.41
0.42
1.6
3.0
12.25
33.25
u/ml
—
8
57
5
33
1.52
0.41
2.0
1.9
—
—
—
0
0
5
33
1.52
0.41
4.8
4.2
—
—
—
0
0
11
79
1.40
0.41
1.5
1.9
—
—
—
0
0
15
115
1.32
0.39
1.3
1.8
201.00
213.35
u/ml
—
6
66
355
3624
0.89
0.38
5.0
4.7
4.66
4.67
mmol/l
0.11
333
3441
308
2991
1.10
0.38
5.4
4.2
14.87
14.58
pmol/l
1.28
287
2779
26
217
1.21
0.36
1.6
2.4
321.10
5141.36
u/l
—
7
89
15
120
1.26
0.30
1.2
1.7
—
—
—
0
0
47
523
0.89
0.30
2.8
2.8
0.73
0.73
ug/l
0.00
31
296
8
106
0.75
0.29
2.6
1.9
—
—
—
0
0
14
173
0.80
0.29
1.6
1.7
—
—
—
0
0
13
103
1.27
0.28
1.2
1.1
—
—
—
0
0
10
76
1.32
0.28
1.2
1.1
—
—
—
0
0
343
3369
1.08
0.26
5.3
5.6
36.94
38.29
mmol/mol
2.19
320
3205
9
72
1.26
0.26
2.0
1.4
—
—
—
0
0
40
443
0.89
0.24
2.3
2.2
—
—
—
0
0
10
126
0.79
0.24
1.3
1.8
—
—
—
0
0
7
93
0.75
0.22
1.4
1.6
50.63
51.93
ug/l
—
7
93
5
40
1.25
0.22
1.4
1.1
—
72.20
—
0
5
0
11
0.00
0.21
0.0
1.0
—
68.64
—
0
11
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
2.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
9.75
—
0
12
11
89
1.24
0.21
1.5
2.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
18
155
1.17
0.20
1.3
1.3
—
—
—
0
0
6
49
1.23
0.20
1.0
1.1
—
—
—
0
0
6
51
1.18
0.19
1.2
1.7
—
87.40
—
0
5
10
82
1.22
0.17
1.9
1.2
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
10
82
1.22
0.17
3.2
10.2
0.62
0.32
iu/ml
—
5
42
15
129
1.17
0.17
1.0
1.1
—
11.57
—
0
18
423
4207
1.15
0.16
30.3
20.8
263.05
256.20
e9/l
1.27
413
4134
16
139
1.16
0.16
1.4
1.6
0.22
0.23
g/l
0.28
16
131
6
77
0.78
0.15
1.7
1.1
—
—
—
0
0
6
78
0.77
0.15
1.8
1.4
1968.67
8122.52
e6/l
—
6
58
6
80
0.75
0.15
3.2
7.4
—
2780.80
—
0
10
10
84
1.19
0.14
1.6
1.2
—
—
—
0
0
8
96
0.83
0.14
5.4
8.9
—
381.81
—
0
16
423
4210
1.13
0.13
30.3
20.7
4.58
4.58
e12/l
0.06
414
4126
16
142
1.13
0.13
1.4
1.6
1.08
1.20
g/l
0.77
16
132
16
179
0.89
0.12
1.1
1.1
1.47
1.52
g/l
0.35
16
179
72
692
1.05
0.11
4.2
4.0
23.83
22.29
%
0.42
38
281
5
47
1.06
0.09
1.0
1.2
—
—
—
0
0
110
1127
0.97
0.08
1.5
1.4
0.96
1.85
u/ml
0.74
28
304
57
592
0.96
0.08
3.0
1.8
1.30
1.41
%
0.73
51
528
5
60
0.83
0.08
1.8
1.1
95.00
98.16
%
—
5
55
5
62
0.80
0.08
1.4
1.1
1.58
1.36
g/l
—
5
57
89
867
1.03
0.07
4.7
4.6
2.17
1.65
ug/l
1.01
83
784
7
83
0.84
0.07
1.3
1.1
—
1.57
—
0
17
36
376
0.95
0.06
2.2
2.1
—
—
—
0
0
12
109
1.10
0.06
2.0
1.9
—
—
—
0
0
12
110
1.09
0.05
1.1
1.2
—
—
—
0
0
348
3497
0.98
0.05
6.2
5.1
1.89
1.85
mu/l
0.32
325
3300
23
219
1.05
0.04
4.6
1.4
0.33
0.26
mg/l
0.20
12
102
105
1035
1.02
0.04
1.6
1.7
—
—
—
0
0
102
1032
0.98
0.02
4.1
4.2
5.61
10.63
mg/mmol
1.72
76
652
14
148
0.94
0.02
1.2
1.1
—
4.56
—
0
22
125
1242
1.01
0.01
3.3
3.5
8.06
8.03
mmol/l
0.02
116
1078
19
184
1.03
0.00
1.3
2.1
2.19
5.44
iu/ml
—
7
38
32
326
0.98
0.00
1.9
1.3
112.36
149.54
u/ml
0.33
15
136
10
104
0.96
0.00
2.2
1.8
—
—
—
0
0
10
103
0.97
0.00
1.4
1.3
—
—
—
0
0
13
127
1.02
0.00
1.5
1.5
—
—
—
0
0
63
631
1.00
0.00
1.5
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
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
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
7.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
12.8
—
9.88
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
6
60
1.00
-0.00
1.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
5.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
259.20
—
0
5
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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