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Congenital malformations, deformations and chromosomal abnormalities

Endpoint Browser

Q17_CONGEN_MALFO_DEFORMAT_CHROMOSOMAL_ABNORMALITI

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q00-Q99
  • Hospital discharge: ICD-9 — 7[4-5]
  • Hospital discharge: ICD-8 — 7[4-5]
  • Cause of death: ICD-10 — Q00-Q99
  • Cause of death: ICD-9 — 7[4-5]
  • Cause of death: ICD-8 — 7[4-5]

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

30768

4. Check minimum number of events

None

30768

5. Include endpoints

None

30768

6. Filter based on genotype QC (FinnGen only)

29515

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy 1
First used in FinnGen datafreeze DF4

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-

This endpoint is excluded from FinRegistry analyses (omitted endpoint).

-FinnGen-

Key figures

All Female Male
Number of individuals 29515 18044 11471
Unadjusted period prevalence (%) 6.57 7.09 5.76
Median age at first event (years) 27.43 29.33 24.45

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

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This endpoint is excluded from FinRegistry analyses (omitted endpoint).

Relationships between endpoints

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Index endpoint: Q17_CONGEN_MALFO_DEFORMAT_CHROMOSOMAL_ABNORMALITI – Congenital malformations, deformations and chromosomal abnormalities

GWS hits: -

This endpoint is excluded from FinRegistry analyses (omitted endpoint).