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Sphingolipidosis, other/unspecified

DOID Endpoint Browser PheWeb

E4_SPHIGLOLIPNAS

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 — E75.2, E75.2+N08.4, E75.3
  • Hospital discharge: ICD-9 — 3300
  • Hospital discharge: ICD-8 — 2728[1-2]
  • Cause of death: ICD-10 — E75.2, E75.2+N08.4, E75.3
  • Cause of death: ICD-9 — 3300
  • Cause of death: ICD-8 — 2728[1-2]

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

57

4. Check minimum number of events

None

57

5. Include endpoints

None

57

6. Filter based on genotype QC (FinnGen only)

54

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 476 287 184
Only index persons 327 216 111
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.00
Median age at first event (years)
Whole population 41.58 47.56 31.35
Only index persons 45.49 49.01 38.63

-FinnGen-

Key figures

All Female Male
Number of individuals 54 38 16
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 47.53 48.86 44.37

-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_SPHIGLOLIPNAS – Sphingolipidosis, other/unspecified

GWS hits: -

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