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Metabolic disorder, other/unspecified

DOID EFO Endpoint Browser PheWeb

E4_METABONAS

metabolic disease: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.

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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 — E88.8#, E88.9#
  • Hospital discharge: ICD-9 — 277[8-9]
  • Cause of death: ICD-10 — E88.8#, E88.9#
  • Cause of death: ICD-9 — 277[8-9]

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

86

4. Check minimum number of events

None

86

5. Include endpoints

None

86

6. Filter based on genotype QC (FinnGen only)

79

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

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

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 1049 516 527
Only index persons 686 348 338
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 19.12 21.80 16.02
Only index persons 38.81 39.57 38.04

-FinnGen-

Key figures

All Female Male
Number of individuals 79 40 39
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 53.88 54.54 53.21

-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: E4_METABONAS – Metabolic disorder, other/unspecified

GWS hits: 1

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