Disorders of aromatic amino-acid metabolism

E4_AROMAMINO

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 E70
  • Cause of death: ICD-10 E70

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

96

4. Check minimum number of events

None

96

5. Include endpoints

101

6. Filter based on genotype QC (FinnGen only)

96

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 acidorum aminoicorum aromaticorum

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 1159 532 616
Only index persons 866 389 477
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 58.64 60.78 56.81
Only index persons 56.65 56.92 56.42

-FinnGen-

Key figures

All Female Male
Number of individuals 96 44 52
Unadjusted period prevalence (%) 0.02 0.02 0.03
Median age at first event (years) 52.84 42.58 61.52

-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

Mortality – FinRegistry

Relationships between endpoints

Index endpoint: E4_AROMAMINO – Disorders of aromatic amino-acid metabolism

GWS hits: -

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