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

Refsum disease

G6_REFSUM

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 G60.1
  • Hospital discharge: ICD-9 3563
  • Cause of death: ICD-10 G60.1
  • Cause of death: ICD-9 3563

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

12

4. Check minimum number of events

None

12

5. Include endpoints

None

12

6. Filter based on genotype QC (FinnGen only)

12

Control definitions (FinnGen only)

Control exclude G6_POLYNEU

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G60
Name in latin Morbus Refsum

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 104 49 55
Only index persons 88 45 43
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 - 54.65 58.71
Only index persons 55.90 54.65 57.20

-FinnGen-

Key figures

All Female Male
Number of individuals 12 - 11
Unadjusted period prevalence (%) 0.01 - 0.01
Median age at first event (years) 64.31 - 63.09

-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: G6_REFSUM – Refsum disease

GWS hits: -

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