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Sickle-cell disorders

DOID EFO Endpoint Browser PheWeb

D3_SICKLECELLDIS

obsolete_sickle cell disease: ['A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.']

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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 — D57
  • Hospital discharge: ICD-9 — 282[5-6]
  • Cause of death: ICD-10 — D57
  • Cause of death: ICD-9 — 282[5-6]

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

70

4. Check minimum number of events

None

70

5. Include endpoints

None

70

6. Filter based on genotype QC (FinnGen only)

56

Control definitions (FinnGen only)

Control exclude D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D55-D59
Name in latin Morbi meniscocytici

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 754 385 332
Only index persons 575 317 258
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 52.37 54.03 52.53
Only index persons 56.62 57.36 55.71

-FinnGen-

Key figures

All Female Male
Number of individuals 56 28 28
Unadjusted period prevalence (%) 0.01 0.01 0.02
Median age at first event (years) 59.34 58.64 60.04

-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_SICKLECELLDIS – Sickle-cell disorders

GWS hits: -

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