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Hereditary factor VIII deficiency

DOID EFO Endpoint Browser PheWeb

D3_HEREDFVIIIDEF

obsolete_factor VIII deficiency: An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

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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 — D66
  • Hospital discharge: ICD-9 — 2860
  • Hospital discharge: ICD-8 — 2860
  • Cause of death: ICD-10 — D66
  • Cause of death: ICD-9 — 2860
  • Cause of death: ICD-8 — 2860

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

82

4. Check minimum number of events

None

82

5. Include endpoints

None

82

6. Filter based on genotype QC (FinnGen only)

80

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D65-D69
Name in latin Deficientia hereditaria factoris VIII

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 723 205 511
Only index persons 586 187 399
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.02
Median age at first event (years)
Whole population 19.22 36.79 11.69
Only index persons 19.32 35.25 11.86

-FinnGen-

Key figures

All Female Male
Number of individuals 80 33 47
Unadjusted period prevalence (%) 0.02 0.01 0.03
Median age at first event (years) 24.10 32.72 18.04

-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_HEREDFVIIIDEF – Hereditary factor VIII deficiency

GWS hits: -

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