Congenital ichthyosis

Q17_CONGEN_ICHTHYOSIS

Endpoint definition

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 Q80
  • Cause of death: ICD-10 Q80

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

93

4. Check minimum number of events

None

93

5. Include endpoints

None

93

6. Filter based on genotype QC (FinnGen only)

92

Control definitions (FinnGen only)

Control exclude Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q8
Name in latin Ichthyosis congenita

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1177 430 744
Only index persons 1017 379 638
Unadjusted period prevalence (%)
Whole population 0.02 0.01 0.02
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 19.16 24.30 16.03
Only index persons 20.43 25.76 17.26

-FinnGen-

Key figures

All Female Male
Number of individuals 92 48 44
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 38.64 38.47 38.84

-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

Relationships between endpoints

Index endpoint: Q17_CONGEN_ICHTHYOSIS – Congenital ichthyosis

GWS hits: 1

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