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Hereditary elliptocytosis

EFO Endpoint Browser

D3_HEREELLIPTO

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 — D58.1
  • Hospital discharge: ICD-9 — 2821A
  • Hospital discharge: ICD-8 — 2821
  • Cause of death: ICD-10 — D58.1
  • Cause of death: ICD-9 — 2821A
  • Cause of death: ICD-8 — 2821

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

14

4. Check minimum number of events

None

14

5. Include endpoints

None

14

6. Filter based on genotype QC (FinnGen only)

12

Control definitions (FinnGen only)

Control exclude D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D58
Name in latin Elliptocytosis hereditaria

Case counts by codes

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FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 139 75 64
Only index persons 109 57 52
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 - 44.55 49.73
Only index persons 38.96 35.72 42.51

-FinnGen-

Key figures

All Female Male
Number of individuals 12 8 -
Unadjusted period prevalence (%) 0.00 0.00 -
Median age at first event (years) 53.40 51.02 -

-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

Not a core endpoint, no data to show.

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: D3_HEREELLIPTO – Hereditary elliptocytosis

GWS hits: -

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