Anomalies of pupillary function

H7_ANOMAPUPFUNC

No definition available.

Endpoint definition

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Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — H57.0, H58.0, H58.0A52.1 Hospital discharge: ICD-9 — 3794 Hospital discharge: ICD-8 — 3783 Cause of death: ICD-10 — H57.0, H58.0, H58.0A52.1 Cause of death: ICD-9 — 3794 Cause of death: ICD-8 — 3783 2 out of 7 registries used, show all original rules.	771
4. Check minimum number of events None	771
5. Include endpoints None	771
6. Filter based on genotype QC (FinnGen only)	771

Control definitions (FinnGen only)

Control exclude: H7_EYEOTH

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2

NAME	H7_ANOMAPUPFUNC
CONTROL_EXCLUDE	H7_EYEOTH
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H570\|H580
HD_ICD_9	3794
HD_ICD_8	3783
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	H570\|H580
COD_ICD_9	3794
COD_ICD_8	3783
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

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List of similar endpoints to Anomalies of pupillary function based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	5859	3670	2172
Only index persons	5135	3304	1831
Unadjusted period prevalence (%)
Whole population	0.09	0.11	0.06
Only index persons	0.10	0.12	0.07
Median age at first event (years)
Whole population	38.54	40.94	34.48
Only index persons	41.34	42.94	38.47

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	771	548	223
Unadjusted period prevalence (%)	0.16	0.19	0.10
Median age at first event (years)	45.97	45.95	46.01

-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)

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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
675: Matched controls
6749

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H57.0

ICD-10 Finland

Anomalies of pupillary function

4503599627370496.0

323.0

650

G90.2

ICD-10 Finland

Horner syndrome

41.9

26.0

Z01.0

ICD-10 Finland

Examination of eyes and vision

3.1

24.6

156

597

AA1AD

NOMESCO Finland

CT of head and brain

2.7

22.0

175

769

R29.8

ICD-10 Finland

Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems

3.4

15.9

261

XCW99

NOMESCO Finland

Other investigative procedure of eye

3.1

15.1

317

H57.1

ICD-10 Finland

Ocular pain

6.6

14.2

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

3.4

13.4

213

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

3.2

13.1

240

R51.80

ICD-10 Finland

Headache

2.3

12.4

130

641

R42

ICD-10 Finland

Dizziness and giddiness

2.2

12.2

137

697

XCK00

NOMESCO Finland

Perimetry

3.4

11.8

177

37834

ICD-8 Finland

Other diseases of eye, Deformatio pupillae. Anisocoria. Miosis. Mydriasis

+∞

11.5

Q13.2

ICD-10 Finland

Other congenital malformations of iris

35.7

11.3

R03AC02

ATC

salbutamol; inhalant

1.7

11.0

371

2787

PA6BD

NOMESCO Finland

Extensive CT of neck arteries

4.5

10.9

CS444

NOMESCO Finland

Visual field testing with Octopus automated perimetry

5.0

10.6

H53.1

ICD-10 Finland

Subjective visual disturbances

3.2

10.0

171

R20.2

ICD-10 Finland

Paraesthesia of skin

3.0

10.0

212

Z01.8

ICD-10 Finland

Other specified special examinations

2.0

10.0

149

848

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

2.6

9.7

279

H53.2

ICD-10 Finland

Diplopia

5.6

9.6

GD1AA

NOMESCO Finland

Thorax X-ray examination

1.7

9.5

252

1738

A02BA02

ATC

ranitidine; systemic

2.1

9.2

115

609

H53.9

ICD-10 Finland

Visual disturbance, unspecified

4.5

8.8

L01

ICPC

Neck symptom/complaint

2.1

8.7

101

519

W01

ICD-10 Finland

Fall on same level from slipping, tripping and stumbling

1.8

8.6

172

1078

N06AX11

ATC

mirtazapine; oral

1.7

8.6

206

1369

H57.9

ICD-10 Finland

Disorder of eye and adnexa, unspecified

27.9

8.5

S01XA20

ATC

artificial tears and other indifferent preparations; ophthalmic

1.7

8.5

238

1654

R06.0

ICD-10 Finland

Dyspnoea

1.8

8.3

149

901

M79.6

ICD-10 Finland

Pain in limb

1.7

8.3

230

1594

M01AB05

ATC

diclofenac; systemic, rectal

1.6

7.7

410

3335

H20.1

ICD-10 Finland

Chronic iridocyclitis

6.6

7.5

R10.4

ICD-10 Finland

Other and unspecified abdominal pain

1.6

7.2

241

1740

Z71.8

ICD-10 Finland

Other specified counselling

1.7

7.1

165

1076

M25.5

ICD-10 Finland

Pain in joint

1.7

7.1

191

1302

G44.2

ICD-10 Finland

Tension-type headache

2.0

7.1

531

F29

ICPC

Eye symptom/complaint other

2.3

7.1

286

H04.10

ICD-10 Finland

Dry eye syndrome

2.2

7.0

344

R07.4

ICD-10 Finland

Chest pain, unspecified

1.7

6.9

153

982

N05AH04

ATC

quetiapine; oral

1.8

6.9

115

677

TAB00

NOMESCO Finland

Lumbar puncture

3.0

6.8

128

S06.0

ICD-10 Finland

Concussion

2.1

6.8

385

R52.9

ICD-10 Finland

Pain, unspecified

2.4

6.8

253

H50.2

ICD-10 Finland

Vertical strabismus

16.9

6.8

R06AX27

ATC

desloratadine; oral

1.6

6.7

197

1371

WYA05

NOMESCO Finland

Emergency visit or other similar visit involving procedures

1.5

6.6

318

2488

K04.0

ICD-10 Finland

Pulpitis

2.1

6.6

375

M54.5

ICD-10 Finland

Low back pain

1.6

6.6

212

1508

N02AA59

ATC

codeine, combinations excl. psycholeptics; systemic

1.5

6.5

277

2103

F32.9

ICD-10 Finland

Depressive episode, unspecified

1.9

6.5

505

F41.9

ICD-10 Finland

Anxiety disorder, unspecified

2.0

6.3

395

I49.9

ICD-10 Finland

Cardiac arrhythmia, unspecified

2.0

6.3

428

S01GX02

ATC

levocabastine; ophthalmic

2.5

6.0

195

Mortality – FinRegistry

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Association

Association between endpoint H7_ANOMAPUPFUNC and mortality.

Females

Parameter	HR [95% CI]	p-value
H7_ANOMAPUPFUNC	1.182 [0.96, 1.46]	0.124
Birth year	0.993 [0.98, 1.0]	0.099

During the follow-up period (1.1.1998 — 31.12.2019), 169 out of 2968 females with H7_ANOMAPUPFUNC died.

Males

Parameter	HR [95% CI]	p-value
H7_ANOMAPUPFUNC	1.53 [1.15, 2.03]	0.003
Birth year	0.99 [0.98, 1.0]	0.032

During the follow-up period (1.1.1998 — 31.12.2019), 134 out of 1746 males with H7_ANOMAPUPFUNC died.

Mortality risk

Mortality risk for people of age

years, who have H7_ANOMAPUPFUNC.

N-year risk	Females	Males
1	0.131%	0.289%
5	0.718%	1.814%
10	1.711%	4.479%
15	3.221%	8.656%
20	5.523%	14.409%

Relationships between endpoints

↥

Index endpoint: H7_ANOMAPUPFUNC – Anomalies of pupillary function

GWS hits: -

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

Loading data

Anomalies of pupillary function

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints