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

Lesch-Nyhan syndrome

E4_LESCHNYMAN

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 E79.1
  • Cause of death: ICD-10 E79.1

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

0

4. Check minimum number of events

None

0

5. Include endpoints

None

0

6. Filter based on genotype QC (FinnGen only)

None

0

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 E79
Name in latin Syndroma Lesch-Nyhan

Similar endpoints

List of similar endpoints to Lesch-Nyhan syndrome based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Broader endpoints:

None

Venn diagram with a set fully inside an highlighted set Narrower endpoints:

None

Case counts by codes

FinnGen case counts by registry codes:

No data for upset plot.

No data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 28 14 13
Only index persons 22 10 12
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 41.79 59.94 20.42
Only index persons 41.80 59.94 26.67

-FinnGen-

Key figures

All Female Male
Number of individuals - - -
Unadjusted period prevalence (%) - - -
Median age at first event (years) - - -

-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_LESCHNYMAN – Lesch-Nyhan syndrome

GWS hits: -

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