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CR(E)ST syndrome

DOID EFO Endpoint Browser PheWeb

CREST

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 — M34.1
  • Cause of death: ICD-10 — M34.1

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

421

4. Check minimum number of events

None

421

5. Include endpoints

None

421

6. Filter based on genotype QC (FinnGen only)

408

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze DF2
Parent code in ICD-10 M34
Name in latin Syndroma CREST

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 2272 1946 313
Only index persons 2112 1834 278
Unadjusted period prevalence (%)
Whole population 0.05 0.06 0.01
Only index persons 0.06 0.07 0.01
Median age at first event (years)
Whole population 58.34 58.28 59.14
Only index persons 57.94 57.80 58.89

-FinnGen-

Key figures

All Female Male
Number of individuals 408 358 50
Unadjusted period prevalence (%) 0.14 0.16 0.03
Median age at first event (years) 56.88 57.08 55.45

-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

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Relationships between endpoints

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Index endpoint: CREST – CR(E)ST syndrome

GWS hits: -

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