≡ Risteys
FR+FG R10

Documentation Changelog GitHub Contact & Feedback

Pure hypercholesterolaemia

DOID EFO Endpoint Browser PheWeb

E4_HYPERCHOL

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 — E78.0
  • Hospital discharge: ICD-9 — 2720
  • Hospital discharge: ICD-8 — 2720
  • Cause of death: ICD-10 — E78.0
  • Cause of death: ICD-9 — 2720
  • Cause of death: ICD-8 — 2720

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

31181

4. Check minimum number of events

None

31181

5. Include endpoints

31181

6. Filter based on genotype QC (FinnGen only)

30214

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 E78
Name in latin Hypercholesterolaemia pura

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 284005 137350 145983
Only index persons 274601 133710 140891
Unadjusted period prevalence (%)
Whole population 4.00 3.93 4.08
Only index persons 5.15 4.92 5.38
Median age at first event (years)
Whole population 69.04 71.71 66.56
Only index persons 69.09 71.70 66.60

-FinnGen-

Key figures

All Female Male
Number of individuals 30214 13417 16797
Unadjusted period prevalence (%) 7.72 5.83 9.24
Median age at first event (years) 66.83 67.31 66.45

-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_HYPERCHOL – Pure hypercholesterolaemia

GWS hits: 52

loading spinner Loading Relationships table