No definition available.
Congenital malformations of spine and bony thorax
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_SPINE_BONY_THORAX
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
190 |
4. Check minimum number of eventsNone |
190 |
5. Include endpointsNone |
190 |
6. Filter based on genotype QC (FinnGen only) |
183 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q6[5-9]|Q7
Name in latin
Malformationes congenitae columnae vertebralis et ossium thoracis
Similar endpoints
↥List of similar endpoints to
Congenital malformations of spine and bony thorax
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2337 | 1195 | 1137 |
| Only index persons | 2038 | 1078 | 960 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.04 | 0.04 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 14.46 | 15.32 | 13.42 |
| Only index persons | 15.67 | 16.60 | 14.63 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 183 | 117 | 66 |
| Unadjusted period prevalence (%) | 0.04 | 0.05 | 0.03 |
| Median age at first event (years) | 26.68 | 31.35 | 18.39 |
-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_CONGEN_MALFO_SPINE_BONY_THORAX and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_SPINE_BONY_THORAX | 1.972 [1.38, 2.82] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.883 |
During the follow-up period (1.1.1998 — 31.12.2019), 54 out of 1044 females with Q17_CONGEN_MALFO_SPINE_BONY_THORAX died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_SPINE_BONY_THORAX.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.158% | No data |
| 5 | 1.134% | No data |
| 10 | 2.98% | No data |
| 15 | 6.321% | No data |
| 20 | 11.558% | No data |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_SPINE_BONY_THORAX – Congenital malformations of spine and bony thorax
GWS hits: -
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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