No definition available.
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. |
1105 |
4. Check minimum number of eventsNone |
1105 |
5. Include endpointsNone |
1105 |
6. Filter based on genotype QC (FinnGen only) |
1105 |
Control definitions (FinnGen only)
- Control exclude
- H7_SCLERACORNEA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- H18
- Name in latin
- Dystrophia corneae hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary corneal dystrophies
based on the number of shared cases.
Similar with more cases:
- Other disorders of cornea
- Disorders of sclera, cornea, iris and ciliary body
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 6239 | 4234 | 1985 |
| Only index persons | 5832 | 3982 | 1850 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.10 | 0.12 | 0.06 |
| Only index persons | 0.12 | 0.15 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 66.92 | 68.44 | 63.65 |
| Only index persons | 66.40 | 67.91 | 63.14 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1105 | 744 | 361 |
| Unadjusted period prevalence (%) | 0.22 | 0.25 | 0.16 |
| Median age at first event (years) | 65.95 | 65.13 | 67.64 |
-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 (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
- 952
- Matched controls
- 9518
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H18.5
ICD-10 Finland
Hereditary corneal dystrophies
4503599627370496.0
323.0
942
*
CG2T4
NOMESCO Finland
Topography assessment of cornea
356.8
226.1
220
8
CG2X4
NOMESCO Finland
Optical coherence tomography (OCT) of cornea
1285.3
216.4
203
*
Z94.7
ICD-10 Finland
Corneal transplant status
2468.2
200.3
187
*
CGG31
NOMESCO Finland
Posterior corneal lamellar transplantation
+∞
156.7
146
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
8.2
152.1
407
797
CG2S4
NOMESCO Finland
Photography of cornea
782.7
140.6
135
*
TCG10
NOMESCO Finland
Removal of sutures from cornea
199.6
134.4
137
8
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
5.5
127.1
690
3081
XCW99
NOMESCO Finland
Other investigative procedure of eye
7.6
121.1
325
604
WX100
NOMESCO Finland
Conjunctival surface anesthesia
6.8
118.5
353
758
H18.4
ICD-10 Finland
Corneal degeneration
1227.6
114.0
109
*
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
4.9
112.8
581
2319
H16.0
ICD-10 Finland
Corneal ulcer
32.8
91.4
121
42
H18.8
ICD-10 Finland
Other specified disorders of cornea
320.4
87.2
87
*
CGG45
NOMESCO Finland
Full thickness transplantation of cornea using homograft
+∞
84.7
80
*
H18.6
ICD-10 Finland
Keratoconus
846.6
80.6
78
*
H25.1
ICD-10 Finland
Senile nuclear cataract
3.7
74.5
460
1911
WX140
NOMESCO Finland
Parabulbar anesthesy
8.6
63.3
145
194
H18.1
ICD-10 Finland
Bullous keratopathy
+∞
60.0
57
*
CGD10
NOMESCO Finland
Laser keratoplasty for error of refraction
99.6
59.7
65
7
ZXA10
NOMESCO Finland
Bilateral
3.6
57.0
328
1223
CG2Z4
NOMESCO Finland
Specialised imaging of cornea
580.7
56.2
55
*
XCK10
NOMESCO Finland
Photography of fundus of eye
4.8
55.8
209
527
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
5.0
55.1
197
472
TCG30
NOMESCO Finland
Imaging of anterior and posterior part of cornea
+∞
53.6
51
*
WX002
NOMESCO Finland
Sedation and analgesia
3.3
51.7
332
1329
H16.9
ICD-10 Finland
Keratitis, unspecified
140.1
50.3
53
*
CHB15
NOMESCO Finland
Puncture of anterior chamber of eye with replacement of aqueous
+∞
49.4
47
*
H20.0
ICD-10 Finland
Acute and subacute iridocyclitis
123.4
44.2
47
*
H26.4
ICD-10 Finland
After-cataract
4.0
43.4
193
564
CJB10
NOMESCO Finland
Laser discission of secondary cataract
4.1
41.5
178
501
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic (ophth., corticosteroids and antiinfectives in comb.)
2.6
40.4
448
2442
E85.80
ICD-10 Finland
Meretoja sick
+∞
39.9
38
*
Z3229
NOMESCO Finland
Other healthcare associate professional
4.2
38.0
160
441
CGG30
NOMESCO Finland
Anterior lamellar transplantation of cornea
+∞
36.7
35
*
H18.2
ICD-10 Finland
Other corneal oedema
+∞
35.6
34
*
ZXA05
NOMESCO Finland
Left side
2.5
32.4
345
1780
TCG00
NOMESCO Finland
Protection of cornea and sclera with soft lens
74.5
32.1
36
5
ZXE00
NOMESCO Finland
One hour or less
2.2
29.6
452
2752
ZXA00
NOMESCO Finland
Right side
2.3
29.6
350
1889
H04.10
ICD-10 Finland
Dry eye syndrome
3.5
29.4
152
493
H19.8*E85.80
ICD-10 Finland
Reticular keratitis in Meretoja's patients
+∞
29.3
28
*
S01ED01
ATC
timolol; ophthalmic
6.2
29.2
81
140
CJ2M4
NOMESCO Finland
Scans and measurement printouts for intraocular lens power calculation
11.9
28.7
53
47
S01AD03
ATC
aciclovir; ophthalmic
6.8
27.9
72
113
Z3231
NOMESCO Finland
Registered nurse
2.3
27.4
338
1844
CGE10
NOMESCO Finland
Keratectomy
+∞
27.2
26
*
H17.9
ICD-10 Finland
Corneal scar and opacity, unspecified
+∞
25.1
24
*
CGD99
NOMESCO Finland
Other operation for error of refraction
+∞
24.1
23
*
ZXD10
NOMESCO Finland
Scheduled procedure
2.0
23.1
429
2743
H18.3
ICD-10 Finland
Changes in corneal membranes
+∞
22.0
21
*
S01ED51
ATC
timolol, combinations; ophthalmic
3.3
21.7
115
377
H17.8
ICD-10 Finland
Other corneal scars and opacities
224.9
21.7
22
*
S01EA03
ATC
apraclonidine; ophthalmic
13.7
21.6
37
28
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
3.5
20.7
100
305
H52.2
ICD-10 Finland
Astigmatism
9.9
20.5
41
43
ZXE10
NOMESCO Finland
More than one and less than three hours
2.0
20.4
398
2554
H19.1*B00.5
ICD-10 Finland
Herpesviral keratoconjunctivitis
+∞
19.9
19
*
H18.9
ICD-10 Finland
Disorder of cornea, unspecified
+∞
19.9
19
*
CGG99
NOMESCO Finland
Other reconstructive operations on cornea and sclera
+∞
18.8
18
*
Z2221
NOMESCO Finland
Medical doctor
1.9
17.3
301
1827
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.6
17.0
139
597
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
11.9
16.6
30
26
H25.8
ICD-10 Finland
Other senile cataract
2.4
16.6
150
682
CGF10
NOMESCO Finland
Suture of laceration of cornea
172.9
16.5
17
*
CGE16
NOMESCO Finland
Destruction of lesion of cornea
+∞
15.7
15
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.2
15.2
172
868
3715A
ICD-9 Finland
Corneal opacity and other disorders of cornea, Hereditary corneal dystrophies
+∞
14.6
14
*
S01EA05
ATC
brimonidine; ophthalmic (sympathomimetics in glaucoma therapy)
5.0
14.5
46
95
S01BA04
ATC
prednisolone; ophthalmic (corticosteroids, plain)
6.8
14.1
35
53
37102
ICD-8 Finland
Corneal opacity, Dystrophia corneae hereditaria
+∞
13.6
13
*
3604
FHL
Penetration of the cornea
+∞
13.6
13
*
ZXD20
NOMESCO Finland
Day surgery
2.2
13.3
145
716
H40.0
ICD-10 Finland
Glaucoma suspect
2.6
13.0
97
395
S01EE01
ATC
latanoprost; ophthalmic
2.8
12.9
86
327
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
12.5
12.6
22
18
H17.1
ICD-10 Finland
Other central corneal opacity
+∞
12.5
12
*
114
Kela drug reimbursment
Glaucoma
2.4
12.2
110
497
H25.0
ICD-10 Finland
Senile incipient cataract
2.8
11.8
78
297
S01AA01
ATC
chloramphenicol; ophthalmic (antibiotics)
3.2
11.8
63
209
CD2S4
NOMESCO Finland
Photography of eye
16.7
11.7
18
11
S01XA18
ATC
ciclosporin; ophthalmic
16.7
11.7
18
11
XCH00
NOMESCO Finland
Eye pressure measurement
3.4
11.6
55
167
WX142
NOMESCO Finland
Sub-tenon anesthesy
11.3
11.6
21
19
H19.8
ICD-10 Finland
Other disorders of sclera and cornea in diseases classified elsewhere
+∞
11.5
11
*
XCK00
NOMESCO Finland
Perimetry
2.6
11.4
85
346
S01AX11
ATC
[U] ofloxacin; ophthalmic
3.6
10.7
48
140
H20.9
ICD-10 Finland
Iridocyclitis, unspecified
111.2
10.4
11
*
H16.8
ICD-10 Finland
Other keratitis
111.2
10.4
11
*
H16.2
ICD-10 Finland
Keratoconjunctivitis
111.2
10.4
11
*
H18.7
ICD-10 Finland
Other corneal deformities
+∞
10.4
10
*
S01EE05
ATC
tafluprost; ophthalmic
3.3
10.3
52
166
H40.13
ICD-10 Finland
Chronic glaucoma with open ventricular angle
2.9
10.1
60
215
H26.02
ICD-10 Finland
Presenil cataract
3.8
9.8
40
108
S01BA01
ATC
dexamethasone; ophthalmic (corticosteroids, plain)
3.7
9.7
41
114
S01FA01
ATC
atropine; ophthalmic
11.5
9.6
17
15
WX110
NOMESCO Finland
Local anesthesy
1.5
9.4
607
5063
H19.1
ICD-10 Finland
Herpesviral keratitis and keratoconjunctivitis
+∞
9.4
9
*
3718X
ICD-9 Finland
Corneal opacity and other disorders of cornea, Other corneal disorders
+∞
9.4
9
*
CFD10
NOMESCO Finland
Repair of conjunctiva
+∞
9.4
9
*
H18.0
ICD-10 Finland
Corneal pigmentations and deposits
+∞
9.4
9
*
H16.1
ICD-10 Finland
Other superficial keratitis without conjunctivitis
+∞
9.4
9
*
S01EC01
ATC
acetazolamide; systemic
4.6
9.3
31
69
H26.2
ICD-10 Finland
Complicated cataract
6.8
9.2
22
33
CKD60
NOMESCO Finland
Anterior vitrectomy
7.8
9.2
20
26
TCW99
NOMESCO Finland
Other minor procedure in eye surgery
6.6
9.0
22
34
CHB10
NOMESCO Finland
Puncture of anterior chamber of eye with irrigation
11.7
8.6
15
13
S01BC03
ATC
diclofenac; ophthalmic
4.2
8.5
31
76
CS444
NOMESCO Finland
Visual field testing with Octopus automated perimetry
3.3
8.5
42
133
QAJ20
NOMESCO Finland
Subperiosteal facelift
90.8
8.4
9
*
3619
FHL
Other operations in this group, such as corneal refractive surgery
+∞
8.3
8
*
H57.1
ICD-10 Finland
Ocular pain
3.9
8.1
32
85
S01BA07
ATC
fluorometholone; ophthalmic (corticosteroids, plain)
5.3
8.0
23
44
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
2.3
7.8
67
298
S01ED02
ATC
betaxolol; ophthalmic
5.5
7.6
21
39
S01EE04
ATC
travoprost; ophthalmic
3.8
7.5
30
81
QAJ15
NOMESCO Finland
Browlift using video-endoscope
80.7
7.4
8
*
H52.1
ICD-10 Finland
Myopia
4.0
7.4
28
72
H10.4
ICD-10 Finland
Chronic conjunctivitis
8.4
7.3
15
18
F29
ICPC
Eye symptom/complaint other
2.1
7.3
76
370
3716A
ICD-9 Finland
Corneal opacity and other disorders of cornea, Keratoconus
+∞
7.3
7
*
CBH30
NOMESCO Finland
Tarsorraphy
+∞
7.3
7
*
T86.8
ICD-10 Finland
Failure and rejection of other transplanted organs and tissues
+∞
7.3
7
*
CGG20
NOMESCO Finland
Epikeratofakia or keratofakia
+∞
7.3
7
*
H20.1
ICD-10 Finland
Chronic iridocyclitis
+∞
7.3
7
*
S01EC04
ATC
brinzolamide; ophthalmic
2.7
7.1
45
169
S01GX01
ATC
cromoglicic acid; ophthalmic
1.7
7.0
168
1090
H10.3
ICD-10 Finland
Acute conjunctivitis, unspecified
2.5
6.9
53
223
S01KA02
ATC
hypromellose; ophthalmic
3.6
6.9
29
82
QAJ30
NOMESCO Finland
Other facelift
13.9
6.9
11
8
H02.2
ICD-10 Finland
Lagophthalmos
9.4
6.8
13
14
H35.38
ICD-10 Finland
Preretinal fibrosis of the macula
2.7
6.7
43
161
H02.1
ICD-10 Finland
Ectropion of eyelid
5.5
6.6
18
33
H40.10
ICD-10 Finland
Capsular glaucoma with pseudoexfoliation on the anterior lens capsule
2.9
6.5
37
129
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
6.0
6.3
16
27
H02.4
ICD-10 Finland
Ptosis of eyelid
3.0
6.3
34
117
S01AA12
ATC
tobramycin; ophthalmic
18.1
6.3
9
5
H16.4
ICD-10 Finland
Corneal neovascularization
+∞
6.3
6
*
CGW99
NOMESCO Finland
Other operation on cornea or sclera
+∞
6.3
6
*
EAB20
NOMESCO Finland
Plastic repair of lip
+∞
6.3
6
*
CGG35
NOMESCO Finland
Transplantation of endothelium of cornea
+∞
6.3
6
*
H21.0
ICD-10 Finland
Hyphaema
+∞
6.3
6
*
S01XA03
ATC
sodium chloride, hypertonic; ophthalmic
+∞
6.3
6
*
TCF00
NOMESCO Finland
Subconjunctival therapeutic injection
26.9
6.2
8
*
CHW99
NOMESCO Finland
Other operation on anterior chamber, anterior chamber angle, iris or ciliary body
26.9
6.2
8
*
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
1.4
6.2
345
2703
ZXD05
NOMESCO Finland
Urgent procedure
1.5
6.1
266
1982
H27.0
ICD-10 Finland
Aphakia
12.6
6.1
10
8
S01BC05
ATC
ketorolac; ophthalmic
2.5
6.0
46
192
Mortality – FinRegistry
↥Association
Association between endpoint H7_KERATOCONUS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_KERATOCONUS | 0.924 [0.81, 1.05] | 0.231 |
| Birth year | 0.998 [0.99, 1.01] | 0.592 |
During the follow-up period (1.1.1998 — 31.12.2019), 527 out of 3224 females with H7_KERATOCONUS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_KERATOCONUS | 0.883 [0.73, 1.07] | 0.197 |
| Birth year | 0.988 [0.98, 1.0] | 0.014 |
During the follow-up period (1.1.1998 — 31.12.2019), 245 out of 1522 males with H7_KERATOCONUS died.
Mortality risk
Mortality risk for people of age
years, who have H7_KERATOCONUS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.09% | 0.166% |
| 5 | 0.582% | 1.079% |
| 10 | 1.379% | 2.724% |
| 15 | 2.655% | 5.079% |
| 20 | 4.734% | 8.566% |
Relationships between endpoints
↥Index endpoint: H7_KERATOCONUS – Hereditary corneal dystrophies
GWS hits: 20
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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