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

See these related core endpoints for full statistics:

Classical phenylketonuria

DOID EFO Endpoint Browser

E4_PHENYLKETOUR

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 — E70.0
  • Hospital discharge: ICD-9 — 2701
  • Hospital discharge: ICD-8 — 27000
  • Cause of death: ICD-10 — E70.0
  • Cause of death: ICD-9 — 2701
  • Cause of death: ICD-8 — 27000

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)

20

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 E70
Name in latin Phenylketonuria (classica)

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 290 145 141
Only index persons 194 90 104
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 58.05 60.84 55.27
Only index persons 52.36 53.17 51.65

-FinnGen-

Key figures

All Female Male
Number of individuals 20 10 10
Unadjusted period prevalence (%) 0.00 0.00 0.01
Median age at first event (years) 39.90 33.53 46.28

-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: E4_PHENYLKETOUR – Classical phenylketonuria

GWS hits: -

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