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Disorders of purine and pyrimidine metabolism

E4_PURINEPYRI

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 E79
  • Cause of death: ICD-10 E79

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

-

4. Check minimum number of events

None

-

5. Include endpoints

177

6. Filter based on genotype QC (FinnGen only)

171

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E70-E90
Name in latin Perturbationes metabolismi purini et pyrimidini

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded from FinRegistry analyses (omitted endpoint).

-FinnGen-

Key figures

All Female Male
Number of individuals 171 66 105
Unadjusted period prevalence (%) 0.04 0.03 0.05
Median age at first event (years) 64.69 61.39 66.77

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

This endpoint is excluded from FinRegistry analyses (omitted endpoint).

Relationships between endpoints

Index endpoint: E4_PURINEPYRI – Disorders of purine and pyrimidine metabolism

GWS hits: -

This endpoint is excluded from FinRegistry analyses (omitted endpoint).