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Systemic disorders of connective tissue in diseases classified elsewhere

DOID EFO Endpoint Browser PheWeb

M13_SYSTCONINOTH

connective tissue disease: A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects.

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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 — M36*
  • Cause of death: ICD-10 — M36*

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

118

4. Check minimum number of events

None

118

5. Include endpoints

None

118

6. Filter based on genotype QC (FinnGen only)

117

Control definitions (FinnGen only)

Control exclude M13_SYSTCONNECT

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

Similar endpoints

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List of similar endpoints to Systemic disorders of connective tissue in diseases classified elsewhere based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Broader endpoints:

Venn diagram with a set fully inside an highlighted set Narrower endpoints:

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 1422 617 803
Only index persons 1167 513 654
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 25.39 30.73 21.29
Only index persons 30.58 35.25 26.92

-FinnGen-

Key figures

All Female Male
Number of individuals 117 61 56
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 50.18 52.64 47.51

-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_SYSTCONINOTH – Systemic disorders of connective tissue in diseases classified elsewhere

GWS hits: -

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