No definition available.
Phakomatoses, not elsewhere classified
EFO MESH Endpoint Browser PheWeb
Q17_PHAKOMATOSES_NOT_ELSEW_CLASSIFIED
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
420 |
4. Check minimum number of eventsNone |
420 |
5. Include endpointsNone |
420 |
6. Filter based on genotype QC (FinnGen only) |
420 |
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
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
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 | 420 | 241 | 179 |
| Unadjusted period prevalence (%) | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | 36.12 | 36.50 | 35.61 |
-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 (R11)
↥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
- 373
- Matched controls
- 3730
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q85.00
ICD-10 Finland
Neurofibromatosis, type 1
+∞
255.7
215
*
Q85.09
ICD-10 Finland
Unspecified neurofibromatosis
2303.8
159.4
143
*
Z31.5
ICD-10 Finland
Genetic counselling
20.4
95.0
151
120
Q85.0
ICD-10 Finland
Neurofibromatosis (nonmalignant)
+∞
90.4
83
*
Q85.1
ICD-10 Finland
Tuberous sclerosis
+∞
75.6
70
*
Q85.01
ICD-10 Finland
Neurofibromatosis, type 2
+∞
65.6
61
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
10.9
56.6
118
152
2377A
ICD-9 Finland
Neoplasm of uncertain behaviour of endocrine glands and nervous system, Neurofibromatosis
+∞
52.3
49
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
5.6
40.0
138
352
QBE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin of trunk
9.9
36.5
77
95
QAE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in head or neck
9.5
34.2
74
95
74340
ICD-8 Finland
Other congenital anomalies of nervous system, Neurofibromatosis
+∞
33.9
32
*
Q85.9
ICD-10 Finland
Phakomatosis, unspecified
+∞
31.7
30
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
7.5
24.4
60
93
Q85.82
ICD-10 Finland
of Hipple-Lindau syndrome
+∞
24.2
23
*
QDE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in lower limb
11.7
23.0
43
41
D33.30
ICD-10 Finland
Acoustic neuroma
43.1
23.0
28
7
QCE10
NOMESCO Finland
Excision of other lesion extending through all layers of skin in upper limb
13.2
19.5
34
28
XCK00
NOMESCO Finland
Perimetry
7.1
19.5
49
78
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
26.7
18.5
25
10
D36.1
ICD-10 Finland
Benign neoplasm: Peripheral nerves and autonomic nervous system
55.4
18.1
21
*
N03AF02
ATC
oxcarbazepine; oral
9.8
17.3
35
39
ZXE10
NOMESCO Finland
More than one and less than three hours
2.7
17.3
163
832
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
7.9
17.3
40
56
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
14.3
16.8
28
21
NDR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of wrist or hand
19.0
16.7
25
14
ZXD10
NOMESCO Finland
Scheduled procedure
2.5
15.5
167
902
ZXC10
NOMESCO Finland
Use of laser
12.6
15.3
27
23
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
4.5
14.8
55
139
ACB19
NOMESCO Finland
Excision of lesion of peripheral nerve other or unspecified
83.5
14.7
16
*
Q82.50
ICD-10 Finland
Naevus flammeus
+∞
14.7
14
*
QAA25
NOMESCO Finland
Destruction of lesion of head or neck
14.2
14.4
24
18
WX402
NOMESCO Finland
General anaesthesia
3.0
13.9
91
362
G40.9
ICD-10 Finland
Epilepsy, unspecified
7.7
13.9
32
45
XA800
NOMESCO Finland
Neuropsychological investigation
5.4
13.8
42
86
G40.22
ICD-10 Finland
Complex partial epileptic seizure with secondary generalization
10.7
13.7
26
26
Q85.80
ICD-10 Finland
Peutz-Jegher syndrome
+∞
13.6
13
*
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
9.1
13.5
28
33
WX408
NOMESCO Finland
General anesthesy, balanced
2.5
13.1
127
636
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.7
13.1
108
494
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
72.4
12.7
14
*
WX002
NOMESCO Finland
Sedation and analgesia
2.9
12.4
84
340
183
Kela drug reimbursment
Lamotrigin and topiramate
13.0
12.3
21
17
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
9.4
11.9
24
27
ZXE20
NOMESCO Finland
More than three and less than five hours
3.1
11.8
69
252
AAB00
NOMESCO Finland
Extirpation of intracranial lesion
13.1
11.8
20
16
D48.9
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Neoplasm of uncertain or unknown behaviour, unspecified
14.2
11.6
19
14
Q85.83
ICD-10 Finland
Gardner syndrome
+∞
11.5
11
*
QBA25
NOMESCO Finland
Destruction of lesion of skin of trunk
12.4
11.5
20
17
ZXC07
NOMESCO Finland
Carbon dioxide laser
36.2
11.3
14
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
3.7
11.2
51
155
ABB00
NOMESCO Finland
Excision of lesion of spinal canal
44.7
11.0
13
*
N03AG04
ATC
vigabatrin; oral
44.7
11.0
13
*
181
Kela drug reimbursment
Retigabine and vigabatrin
44.7
11.0
13
*
TPH07
NOMESCO Finland
Cathetrisation of artery
3.6
10.8
50
154
QAA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of head or neck
29.0
10.8
14
5
9736
FHL
Subcutaneous tumor removal in operating room or anesthesia
22.2
10.8
15
7
TQW99
NOMESCO Finland
Other minor procedure on skin
5.4
10.8
32
64
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
4.0
10.7
43
117
N03AX14
ATC
levetiracetam; systemic
6.4
10.5
27
45
L81.3
ICD-10 Finland
Café au lait spots
113.1
10.5
11
*
ZXC12
NOMESCO Finland
Pulse colorlaser
113.1
10.5
11
*
Q85.88
ICD-10 Finland
Other phakomatoses, not elsewhere classified
+∞
10.5
10
*
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
16.6
10.4
16
10
N03AG01
ATC
valproic acid; systemic, rectal
4.1
10.4
41
110
D23.5
ICD-10 Finland
Benign neoplasm: Skin of trunk
7.8
10.3
23
31
D48.1
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Connective and other soft tissue
10.5
10.1
19
19
D33.45
ICD-10 Finland
Benign Schwannom in the nerve root of the spinal cord
41.3
10.0
12
*
G40.10
ICD-10 Finland
Simple partial seizures
20.7
9.9
14
7
XCK10
NOMESCO Finland
Photography of fundus of eye
3.5
9.8
47
149
AA1CM
NOMESCO Finland
Extensive MRI examination of brain with 3 Tesla magnet
7.1
9.8
23
34
ZXE00
NOMESCO Finland
One hour or less
2.0
9.4
159
998
QXA40
NOMESCO Finland
Skin laser treatment or photocoagulation, unspecified location
+∞
9.4
9
*
D21.1
ICD-10 Finland
Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder
14.1
9.3
15
11
QBB10
NOMESCO Finland
Major dressing of wound of skin of trunk
6.4
9.1
23
38
D32.00
ICD-10 Finland
Benign tumor of the meninges on the outer surface of the cerebrum
13.0
8.9
15
12
ZXA00
NOMESCO Finland
Right side
2.3
8.8
96
495
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.6
8.8
65
276
N03AF01
ATC
carbamazepine; oral, rectal
4.7
8.8
29
66
QBA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of trunk
51.2
8.7
10
*
NA1CG
NOMESCO Finland
Cervical spine extensive MRI examination with high intensity magnet
8.5
8.7
18
22
N05BA09
ATC
clobazam; oral
10.4
8.6
16
16
ABB10
NOMESCO Finland
Resection of lesion of spinal canal
92.1
8.4
9
*
QDA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of lower limb
92.1
8.4
9
*
D41.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Kidney
8.8
8.4
17
20
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
+∞
8.4
8
*
Q85.81
ICD-10 Finland
Sturge-Weber syndrome
+∞
8.4
8
*
9560/0-C72.4
ICD-O-3
Schwannoma, NOS, of acoustic nerve
+∞
8.4
8
*
DE2CG
NOMESCO Finland
Acoustic channel extensive MRI examination with high intensity magnet
17.7
8.1
12
7
XCD10
NOMESCO Finland
Electrophysiological examination of eye
7.5
8.1
18
25
NK1AT
NOMESCO Finland
Muscle biopsy with ultrasound guidance
22.6
8.1
11
5
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.1
8.0
30
78
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.4
7.8
67
307
Z80.0
ICD-10 Finland
Family history of malignant neoplasm of digestive organs
15.4
7.8
12
8
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
2.9
7.7
47
175
G40.19
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures
18.8
7.6
11
6
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
10.3
7.6
14
14
SPAT1229
SPAT
Assessment of need for aid
3.8
7.5
30
83
QCA25
NOMESCO Finland
Destruction of lesion of skin of upper limb
81.7
7.4
8
*
22550
ICD-8 Finland
Benign neoplasm of brain and other parts of nervous system, Peripheral nerves
81.7
7.4
8
*
D37.7
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Other digestive organs
7.1
7.4
17
25
R4120
NOMESCO Finland
Occupational therapy
3.2
7.3
38
129
7595A
ICD-9 Finland
Other and unspecified congenital anomalies, Tuberous sclerosis
+∞
7.3
7
*
D33.46
ICD-10 Finland
Benign neurofibroma in the nerve root of the spinal cord
+∞
7.3
7
*
D33.4
ICD-10 Finland
Benign neoplasm: Spinal cord
+∞
7.3
7
*
QCA40
NOMESCO Finland
Laser therapy or photocoagulation of skin of upper limb
+∞
7.3
7
*
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
16.1
7.3
11
7
NFR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of hip or thigh
30.7
7.2
9
*
D32.1
ICD-10 Finland
Benign neoplasm: Spinal meninges
30.7
7.2
9
*
JN3BD
NOMESCO Finland
Extensive abdominal CT
2.8
7.0
45
175
N05BA01
ATC
diazepam; systemic, rectal
2.5
7.0
56
245
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
3.6
7.0
30
88
S18
ICPC
Laceration/cut
1.9
7.0
144
944
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.4
7.0
32
99
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.0
7.0
98
558
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
14.1
6.9
11
8
ZXA05
NOMESCO Finland
Left side
2.1
6.9
84
454
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.8
6.9
142
934
Z3226
NOMESCO Finland
Physiotherapist
2.1
6.8
81
429
H47.2
ICD-10 Finland
Optic atrophy
40.8
6.8
8
*
QDA25
NOMESCO Finland
Destruction of lesion of skin of lower limb
17.1
6.8
10
6
R4110
NOMESCO Finland
Physiotherapy
2.0
6.8
100
582
QXA25
NOMESCO Finland
Destruction of lesion of skin, site unspecified
5.7
6.7
18
33
KA1AE
NOMESCO Finland
Kidney ultrasound examination
6.1
6.7
17
29
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.3
6.6
62
297
Z3229
NOMESCO Finland
Other healthcare associate professional
2.8
6.5
41
158
AA1AD
NOMESCO Finland
CT of head and brain
2.1
6.5
73
380
NGR20
NOMESCO Finland
Intralesional or marginal excision of tumor of knee or lower leg
71.0
6.4
7
*
D31.2
ICD-10 Finland
Benign neoplasm: Retina
71.0
6.4
7
*
WX1DG
NOMESCO Finland
Very extensive total body MRI with high intensity magnet
71.0
6.4
7
*
D48.2
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Peripheral nerves and autonomic nervous system
71.0
6.4
7
*
SPAT1153
SPAT
Removal of sutures
1.9
6.4
107
649
K56.6
ICD-10 Finland
Other and unspecified intestinal obstruction
6.7
6.4
15
23
JN1DG
NOMESCO Finland
Very extensive MRI examination of upper part of abdomen with high intensity magnet
6.7
6.4
15
23
N03AX12
ATC
gabapentin; oral
2.3
6.3
57
267
NE1DG
NOMESCO Finland
Pelvic, hip and femur very extensive MRI examination with high intensity magnet
18.4
6.3
9
5
N03AB02
ATC
phenytoin; systemic
18.4
6.3
9
5
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
18.4
6.3
9
5
340
Kela drug reimbursment
Everolimus
+∞
6.3
6
*
H52.2
ICD-10 Finland
Astigmatism
5.9
6.2
16
28
D12.6
ICD-10 Finland
Benign neoplasm: Colon, unspecified
4.2
6.2
22
55
AAB10
NOMESCO Finland
Partial excision of intracranial lesion
7.9
6.2
13
17
N03AX09
ATC
lamotrigine; oral
3.3
6.1
29
93
EP1CG
NOMESCO Finland
Extensive MRI examination of soft tissue of neck with high intesity magnet
8.8
6.1
12
14
D18.0
ICD-10 Finland
Haemangioma, any site
5.7
6.1
16
29
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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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