Other chromosome abnormalities, not elsewhere classified

Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Endpoint definition

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 Q99
  • Cause of death: ICD-10 Q99

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

140

4. Check minimum number of events

None

140

5. Include endpoints

None

140

6. Filter based on genotype QC (FinnGen only)

131

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q9
Name in latin Aliae abnormitates chromosomales non alibi classificatae

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 2451 1010 1439
Only index persons 1621 699 922
Unadjusted period prevalence (%)
Whole population 0.04 0.03 0.04
Only index persons 0.03 0.03 0.04
Median age at first event (years)
Whole population 8.59 10.07 7.51
Only index persons 15.21 17.61 13.39

-FinnGen-

Key figures

All Female Male
Number of individuals 131 81 50
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 21.95 30.84 7.56

-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

No data

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED 5.266 [3.59, 7.72] < 0.001
Birth year 0.986 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 81 out of 1126 males with Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED.

N-year risk Females Males
1 No data 1.035%
5 No data 6.0%
10 No data 13.624%
15 No data 24.885%
20 No data 40.393%

Relationships between endpoints

Index endpoint: Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Other chromosome abnormalities, not elsewhere classified

GWS hits: 1

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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