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This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Hereditary erythropoietic porphyria

E4_HERERYPOR

Endpoint definition

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 E80.0
  • Cause of death: ICD-10 E80.0

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

23

4. Check minimum number of events

None

23

5. Include endpoints

None

23

6. Filter based on genotype QC (FinnGen only)

22

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E80
Name in latin Porphyria erythropoetica hereditaria

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 227 116 108
Only index persons 204 104 100
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 45.49 50.79 38.79
Only index persons 44.42 50.75 37.84

-FinnGen-

Key figures

All Female Male
Number of individuals 22 10 12
Unadjusted period prevalence (%) 0.01 0.00 0.01
Median age at first event (years) 46.34 56.11 38.19

-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

Relationships between endpoints

Index endpoint: E4_HERERYPOR – Hereditary erythropoietic porphyria

GWS hits: -

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