Disorders of optic chiasm

H7_OPTICCHIASM

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 — H47.4 Hospital discharge: ICD-9 — 3775 Cause of death: ICD-10 — H47.4 Cause of death: ICD-9 — 3775 2 out of 7 registries used, show all original rules.	29
4. Check minimum number of events None	29
5. Include endpoints None	29
6. Filter based on genotype QC (FinnGen only)	29

Control definitions (FinnGen only)

Control exclude: H7_OPTNERVE

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: H47
Name in latin: Morbositates chiasmatis (nervorum opticorum)

NAME	H7_OPTICCHIASM
CONTROL_EXCLUDE	H7_OPTNERVE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H474
HD_ICD_9	3775
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	H474
COD_ICD_9	3775
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 Disorders of optic chiasm 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:

Not enough data for upset plot.

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	193	106	85
Only index persons	167	93	74
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	50.44	48.51	52.62
Only index persons	50.59	48.12	53.68

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	29	17	12
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	45.10	37.81	55.43

-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

(3018418) pH of Serum or Plasma

5.21

4.58

4.4

4.0

—

7.4

—

(3014326) Insulin-like growth factor-I [Moles/volume] in Serum or Plasma

12.64

4.26

5.0

4.9

16.0

23.0

nmol/l

—

(42870588) Differential panel, method unspecified - Blood

4.61

3.78

5.6

4.0

—

(3033658) Prothrombin time (PT) actual/Normal

4.10

3.38

5.3

3.5

94.8

86.6

0.78

(40758558) Short blood count panel - Blood

4.06

3.33

9.8

5.9

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

144

4.85

3.16

6.4

3.7

6.6

6.8

mmol/l

0.09

137

(3006315) Basophils [#/volume] in Blood

124

4.19

3.13

7.1

5.0

0.0

e9/l

0.38

110

(3001604) Monocytes [#/volume] in Blood

125

4.13

3.10

7.1

4.9

0.6

e9/l

0.03

110

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

3.84

2.96

2.9

2.2

77.1

68.0

nmol/l

0.77

(3019198) Lymphocytes [#/volume] in Blood

127

4.02

2.85

7.0

5.0

1.6

2.0

e9/l

0.96

115

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

3.59

2.80

1.9

2.0

89.2

95.6

pmol/l

—

(3013115) Eosinophils [#/volume] in Blood

130

3.85

2.80

7.5

5.0

0.1

0.2

e9/l

1.93

116

(3029937) Albumin [Presence] in Urine by Test strip

0.00

2.64

0.0

3.1

—

0.0

—

(3012544) pH of Venous blood

3.83

2.61

4.2

2.5

—

(36304419) Bacteria [Presence] in Urine

3.37

2.55

3.9

2.7

—

(3023368) Bacteria identified in Blood by Culture

3.36

2.51

6.3

3.8

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

4.77

2.43

2.7

2.9

0.3

0.2

g/l

—

(3000991) Gas panel - Venous blood

4.01

2.30

8.8

3.3

—

(3021589) Normoblasts [#/volume] in Blood

127

3.36

2.26

6.5

8.2

0.0

e9/l

0.51

101

(3013650) Neutrophils [#/volume] in Blood by Automated count

149

3.61

2.26

13.7

8.1

5.0

4.2

e9/l

0.39

128

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

3.84

2.21

20.4

3.7

27.4

24.8

mmol/l

—

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

239

+∞

2.15

23.6

13.1

34.9

24.2

mg/l

0.76

174

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

4.43

2.05

1.3

1.5

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

3.16

1.95

4.6

2.5

6.4

5.6

kpa

—

(3044640) Blood type and Crossmatch panel - Blood

2.83

1.90

3.1

2.3

—

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

2.74

1.81

3.8

2.7

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

4.41

1.79

9.4

7.0

129.8

126.4

g/l

—

(3042936) Bacteria identified in Isolate by Culture

2.95

1.69

1.5

2.3

—

(3000494) Fungus identified in Specimen by Culture

2.96

1.57

1.6

1.4

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

3.55

1.50

8.8

3.6

1.0

1.4

mmol/l

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

2.65

1.48

2.7

2.1

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

175

2.51

1.33

6.3

3.9

14.6

pmol/l

0.04

165

(40768804) Tissue Pathology biopsy report

2.29

1.28

2.6

2.0

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

2.65

1.20

1.0

2.3

2.1

2.4

g/l

—

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

2.80

1.20

2.8

3.7

92.2

87.7

ng/l

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

2.66

1.14

3.0

1.4

—

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

2.21

1.12

1.9

3.3

—

(3002256) Pathology report gross observation

2.53

1.08

1.0

1.2

—

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

107

2.10

1.08

9.8

4.6

35.1

35.7

g/l

0.20

101

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

2.10

1.02

1.6

1.5

1.9

1.3

mmol/l

0.70

(3014576) Chloride [Moles/volume] in Serum or Plasma

2.43

0.98

11.8

5.7

108.2

100.9

mmol/l

—

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

2.03

0.96

5.8

2.6

24.7

28.8

u/l

0.54

(3031040) Bacteria [#/volume] in Urine by Automated count

162

2.07

0.94

5.0

4.3

—

11077.0

—

(3026008) Bacteria identified in Urine by Culture

2.03

0.91

3.7

2.7

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.00

0.83

0.0

4.9

—

33.5

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

0.00

0.83

0.0

3.0

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

2.20

0.77

3.0

1.5

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

1.96

0.63

3.2

1.7

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.63

0.0

4.0

—

(3019225) pH of Specimen

0.00

0.63

0.0

6.1

—

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

208

1.89

0.56

3.8

1.8

1.2

mmol/l

2.38

193

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

106

1.62

0.53

3.6

4.1

—

(3048689) Calprotectin [Mass/mass] in Stool

1.74

0.46

1.6

1.5

1397.2

42.0

ug/g

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.74

0.46

2.4

2.0

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.74

0.46

1.2

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.62

0.44

6.2

2.3

5.6

5.5

kpa

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.42

0.0

1.5

—

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

165

0.71

0.31

3.0

3.1

—

(1761868) Lipid panel - Serum or Plasma

0.63

0.30

2.0

3.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

167

1.40

0.28

4.7

3.7

—

(3044889) 12 lead EKG panel

167

1.40

0.28

4.6

3.7

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

1.36

0.25

2.1

2.3

86.8

128.0

ug/l

0.60

(3008898) HLA-B27 [Presence]

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

2.5

—

(40768793) Breast Pathology biopsy report

0.00

0.22

0.0

1.2

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

0.00

0.22

0.0

1.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.21

0.0

2.3

—

1.3

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

0.00

0.21

0.0

3.5

—

50.9

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

222

1.47

0.19

4.7

4.3

4.6

mmol/l

0.77

206

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

222

1.47

0.19

4.5

4.1

1.3

1.5

mmol/l

1.59

206

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

146

1.21

0.12

2.8

3.0

70.6

50.4

u/l

0.24

140

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

1.10

0.09

1.1

1.3

—

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

220

1.22

0.09

4.9

4.2

6.2

5.9

mmol/l

0.50

203

(3021601) Nitrite [Presence] in Urine by Test strip

111

1.14

0.05

3.8

5.8

—

0.0

—

(3009261) Glucose [Presence] in Urine by Test strip

113

1.11

0.02

2.1

3.9

—

0.0

—

(3013707) Erythrocyte sedimentation rate by Westergren method

175

0.93

0.00

4.5

3.9

8.6

11.9

mm/h

0.65

166

(3035350) Ketones [Presence] in Urine by Test strip

109

1.01

0.00

2.1

4.0

—

0.0

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

1.7

—

9.5

—

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

0.00

0.0

1.4

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

0.89

0.00

1.5

1.7

—

2.6

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(1616796) Gas panel - Central venous blood

0.00

0.0

1.4

—

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

0.00

0.0

1.6

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

3.0

—

3.9

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.5

—

116.1

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

6.4

—

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

0.00

0.0

1.5

—

1.4

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.0

1.4

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

13.8

—

(4198724)

0.00

0.0

1.0

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.0

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.0

1.8

—

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

0.00

0.0

2.8

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

1.7

—

4.6

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.0

1.0

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

1.2

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

3.0

—

104.8

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

3.0

—

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

0.00

0.0

1.1

—

(43534046) Estradiol (E2) [Moles/volume] in Serum or Plasma by High sensitivity method

0.00

0.0

4.2

—

0.1

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.2

—

92.5

—

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

0.00

0.0

1.4

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.4

—

1.7

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

0.2

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

-0.00

0.0

4.9

—

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

0.00

-0.00

0.0

2.0

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.4

—

8.3

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

-0.00

0.0

1.5

—

Mortality – FinRegistry

↥

Association

Association between endpoint H7_OPTICCHIASM and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have H7_OPTICCHIASM.

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_OPTICCHIASM – Disorders of optic chiasm

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

Disorders of optic chiasm

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