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Hereditary corneal dystrophies

DOID EFO Endpoint Browser PheWeb

H7_KERATOCONUS

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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

Registry filters:

  • Hospital discharge: ICD-10 — H18.5
  • Hospital discharge: ICD-9 — 3715
  • Hospital discharge: ICD-8 — 37102
  • Cause of death: ICD-10 — H18.5
  • Cause of death: ICD-9 — 3715
  • Cause of death: ICD-8 — 37102

2 out of 7 registries used, show all original rules.

832

4. Check minimum number of events

None

832

5. Include endpoints

None

832

6. Filter based on genotype QC (FinnGen only)

812

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

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-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 812 547 265
Unadjusted period prevalence (%) 0.21 0.24 0.15
Median age at first event (years) 64.79 63.68 67.08

-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

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: H7_KERATOCONUS – Hereditary corneal dystrophies

GWS hits: 9

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