Hereditary choroidal dystrophy

H7_CHORDYSTROPTHY

No definition available.

Endpoint definition

↥

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 — H31.2 Hospital discharge: ICD-9 — 3635 Cause of death: ICD-10 — H31.2 Cause of death: ICD-9 — 3635 2 out of 7 registries used, show all original rules.	36
4. Check minimum number of events None	36
5. Include endpoints None	36
6. Filter based on genotype QC (FinnGen only)	36

Control definitions (FinnGen only)

Control exclude: H7_CHOROIDRETINA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: H31
Name in latin: Dystrophia chorioideae hereditaria

NAME	H7_CHORDYSTROPTHY
CONTROL_EXCLUDE	H7_CHOROIDRETINA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H312
HD_ICD_9	3635
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	H312
COD_ICD_9	3635
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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

↥

List of similar endpoints to Hereditary choroidal dystrophy based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	353	147	204
Only index persons	326	139	187
Unadjusted period prevalence (%)
Whole population	0.01	0.00	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	49.47	52.15	47.46
Only index persons	47.61	50.70	45.32

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	36	20	16
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	52.62	50.46	55.32

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

198

0.46

1.33

1.4

2.9

51.1

42.3

u/l

0.14

184

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

107

0.38

1.29

2.2

3.1

26.8

29.7

u/l

—

100

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

195

0.48

1.23

2.7

3.1

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

0.00

1.23

0.0

2.0

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

119

0.41

1.23

3.3

4.3

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

2.65

1.20

6.3

7.6

—

(4010399)

0.00

1.03

0.0

1.3

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

1.03

0.0

1.8

—

(40761536) Microorganisms panel - Urine sediment

0.00

1.02

0.0

2.9

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

164

0.53

0.92

1.8

5.4

8.3

10.2

umol/l

0.70

150

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

107

0.47

0.92

1.7

2.5

72.7

53.3

u/l

—

(3022145) Colonoscopy Study observation

0.00

0.81

0.0

1.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

205

0.60

0.69

3.5

4.6

—

(3018418) pH of Serum or Plasma

0.51

0.67

1.8

3.4

—

7.4

—

(3012544) pH of Venous blood

0.00

0.62

0.0

2.8

—

(3002032) Base excess in Venous blood by calculation

0.00

0.62

0.0

2.8

—

2.5

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.62

0.0

1.2

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.00

0.62

0.0

2.3

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.61

0.0

1.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.58

0.51

3.8

3.5

—

(1761868) Lipid panel - Serum or Plasma

122

0.65

0.45

1.6

3.2

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

301

0.69

0.45

10.7

14.4

40.3

23.5

mg/l

0.77

233

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.00

0.42

0.0

1.3

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.42

0.0

1.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.60

0.41

4.2

4.3

—

(3020779) Urea [Moles/volume] in Serum or Plasma

0.00

0.41

0.0

2.8

—

10.6

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.43

0.34

4.3

3.8

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

126

0.71

0.31

2.7

3.8

35.2

35.5

g/l

—

115

(3002385) Erythrocyte distribution width [Ratio]

255

0.73

0.30

11.3

16.6

13.5

0.05

250

(3044889) 12 lead EKG panel

195

0.76

0.27

3.4

3.9

—

(42870588) Differential panel, method unspecified - Blood

0.75

0.25

11.1

5.1

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

109

1.30

0.23

2.0

1.8

137.1

108.3

pmol/l

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.22

0.0

1.3

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.00

0.22

0.0

1.3

—

(3037121) Protein [Mass/volume] in Urine

0.00

0.22

0.0

2.5

—

0.2

—

(3003327) Ova and parasites identified in Stool by Light microscopy

0.00

0.22

0.0

1.4

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

0.22

0.0

1.2

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

0.22

0.0

2.1

—

(3022313) Gas panel - Capillary blood

0.00

0.22

0.0

3.6

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.22

0.0

1.2

—

(4094501)

0.00

0.22

0.0

1.0

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.00

0.21

0.0

2.4

—

0.8

—

(3008898) HLA-B27 [Presence]

0.00

0.21

0.0

1.0

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.21

0.0

2.5

—

0.8

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

120

0.77

0.21

4.6

3.9

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

277

0.78

0.18

4.3

4.8

5.6

5.9

mmol/l

0.88

251

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

1.16

0.18

1.8

2.8

mg/l

—

(3013512) EKG study

0.75

0.17

2.9

4.6

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

104

0.82

0.15

2.8

3.0

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

125

0.83

0.12

3.0

4.9

1.2

mmol/l

0.04

111

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

134

0.84

0.11

3.4

4.9

1.2

mmol/l

0.05

108

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

1.10

0.10

1.8

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

272

0.84

0.09

3.2

4.1

1.3

mmol/l

0.17

242

(3000850) Epithelial cells [#/volume] in Urine

0.81

0.09

1.8

2.8

10.5

5.1

e6/l

—

(40768804) Tissue Pathology biopsy report

108

1.17

0.09

2.3

1.9

—

(40758558) Short blood count panel - Blood

0.79

0.08

2.0

7.6

—

(3023368) Bacteria identified in Blood by Culture

0.86

0.08

2.4

4.8

—

(3015736) pH of Urine

111

0.86

0.07

3.3

3.7

—

(4281824)

0.00

0.0

1.0

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.2

—

(3023183) Ammonium ion [Moles/volume] in Plasma

0.00

0.0

2.4

—

28.8

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.0

2.0

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.0

3.0

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

1.8

—

53.6

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.0

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

0.0

1.8

—

2.7

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

0.00

0.0

1.2

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

0.00

0.0

4.5

—

26.3

—

(3003694) ABO and Rh group [Type] in Blood

0.89

0.00

1.4

1.7

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.0

1.5

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

275

1.08

0.00

8.6

13.5

89.0

82.6

ml/min/173m2

0.76

232

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.0

1.3

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.3

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.9

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

1.9

—

8.6

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.3

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.0

1.1

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

4.2

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

3.8

—

153.8

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.0

1.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

272

0.97

0.00

10.5

14.7

39.9

40.3

0.13

201

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.1

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

0.00

0.0

1.6

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

2.7

—

130.5

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.1

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.5

—

90.3

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

2.9

—

3.9

—

(3040151) Glucose [Moles/volume] in Capillary blood

0.00

0.0

3.2

—

6.0

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.0

1.4

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

0.94

0.00

2.1

78.1

160.8

u/l

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.0

2.0

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

1.9

—

5.1

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.5

—

1.5

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.6

—

(40761511) CBC panel - Blood by Automated count

311

0.98

0.00

8.5

13.0

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.2

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.6

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

0.00

0.0

2.8

—

23.5

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.5

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.9

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.0

1.4

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.0

1.3

—

(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

2.9

—

107.8

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.0

1.6

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

0.00

0.0

2.7

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

0.00

0.0

2.1

—

0.5

—

(36304419) Bacteria [Presence] in Urine

0.92

0.00

3.0

2.8

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

2.9

—

(3026008) Bacteria identified in Urine by Culture

0.91

0.00

2.5

3.4

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

1.7

—

33.4

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.2

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.5

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

1.2

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

0.00

0.0

3.1

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.00

0.0

2.1

—

89.1

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

0.00

0.0

1.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint H7_CHORDYSTROPTHY and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have H7_CHORDYSTROPTHY.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: H7_CHORDYSTROPTHY – Hereditary choroidal dystrophy

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Hereditary choroidal dystrophy

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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints