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Ankylosing hyperostosis [Forestier]

DOID EFO Endpoint Browser PheWeb

M13_FORESTIER

diffuse idiopathic skeletal hyperostosis: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.

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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 — M48.1
  • Hospital discharge: ICD-9 — 7216
  • Cause of death: ICD-10 — M48.1
  • Cause of death: ICD-9 — 7216

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

398

4. Check minimum number of events

None

398

5. Include endpoints

None

398

6. Filter based on genotype QC (FinnGen only)

384

Control definitions (FinnGen only)

Control exclude M13_DORSOPATHY

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 M48
Name in latin Hyperostosis ancylopoetica

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 3079 1249 1805
Only index persons 2836 1179 1657
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.05
Only index persons 0.05 0.04 0.06
Median age at first event (years)
Whole population 58.00 58.94 57.26
Only index persons 57.53 58.39 56.92

-FinnGen-

Key figures

All Female Male
Number of individuals 384 158 226
Unadjusted period prevalence (%) 0.10 0.07 0.12
Median age at first event (years) 57.98 56.86 58.77

-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: M13_FORESTIER – Ankylosing hyperostosis [Forestier]

GWS hits: 1

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