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Essential (haemorrhagic) thrombocythaemia

DOID EFO Endpoint Browser PheWeb

THROMBOCYTAEMIA

primary myelofibrosis: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.

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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 — D47.3
  • Hospital discharge: ICD-9 — 2387B
  • Hospital discharge: ICD-8 — 2872
  • Cause of death: ICD-10 — D47.3
  • Cause of death: ICD-9 — 2387B
  • Cause of death: ICD-8 — 2872
  • Cancer registry: Topography ICD-O-3 — ANY
  • Cancer registry: Morphology ICD-O-3 — 9962
  • Cancer registry: Behaviour codes — 3

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

1087

4. Check minimum number of events

None

1087

5. Include endpoints

None

1087

6. Filter based on genotype QC (FinnGen only)

1062

Control definitions (FinnGen only)

Control exclude C3_CANCER, C3_CANCER_WIDE

Extra metadata

First used in FinnGen datafreeze DF8

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 7386 4434 2920
Only index persons 6776 4112 2664
Unadjusted period prevalence (%)
Whole population 0.11 0.13 0.08
Only index persons 0.13 0.15 0.10
Median age at first event (years)
Whole population 65.45 66.09 64.42
Only index persons 64.72 65.35 63.73

-FinnGen-

Key figures

All Female Male
Number of individuals 1062 631 431
Unadjusted period prevalence (%) 0.26 0.27 0.24
Median age at first event (years) 62.73 61.24 64.91

-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: THROMBOCYTAEMIA – Essential (haemorrhagic) thrombocythaemia

GWS hits: 7

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