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Hereditary spherocytosis

DOID EFO Endpoint Browser PheWeb

D3_HERESPHERO

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 — D58.0
  • Hospital discharge: ICD-9 — 2820A
  • Hospital discharge: ICD-8 — 2820
  • Cause of death: ICD-10 — D58.0
  • Cause of death: ICD-9 — 2820A
  • Cause of death: ICD-8 — 2820

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

77

4. Check minimum number of events

None

77

5. Include endpoints

None

77

6. Filter based on genotype QC (FinnGen only)

76

Control definitions (FinnGen only)

Control exclude D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D58
Name in latin Sphaerocytosis hereditaria

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 1328 648 674
Only index persons 1089 542 547
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 12.11 13.89 10.13
Only index persons 13.65 15.91 11.41

-FinnGen-

Key figures

All Female Male
Number of individuals 76 42 34
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 23.77 20.95 27.25

-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

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Relationships between endpoints

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Index endpoint: D3_HERESPHERO – Hereditary spherocytosis

GWS hits: 1

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