No definition available.
Congenital musculoskeletal deformities of head, face, spine and chest
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST
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. |
408 |
4. Check minimum number of eventsNone |
408 |
5. Include endpointsNone |
408 |
6. Filter based on genotype QC (FinnGen only) |
386 |
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
Deformitates musculosceletales congenitae capitis, faciei, columnae vertebralis et thoracis
Similar endpoints
↥List of similar endpoints to
Congenital musculoskeletal deformities of head, face, spine and chest
based on the number of shared cases.
Similar with more cases:
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 7857 | 2299 | 5551 |
| Only index persons | 5984 | 1736 | 4248 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.13 | 0.07 | 0.16 |
| Only index persons | 0.13 | 0.06 | 0.16 |
| Median age at first event (years) | |||
| Whole population | 12.97 | 11.53 | 13.53 |
| Only index persons | 14.71 | 14.54 | 14.78 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 386 | 173 | 213 |
| Unadjusted period prevalence (%) | 0.09 | 0.07 | 0.11 |
| Median age at first event (years) | 21.67 | 27.14 | 17.23 |
-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_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST | 1.107 [0.86, 1.42] | 0.422 |
| Birth year | 0.984 [0.97, 0.99] | 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 83 out of 4624 males with Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.219% |
| 5 | No data | 1.212% |
| 10 | No data | 3.016% |
| 15 | No data | 5.71% |
| 20 | No data | 9.419% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MUSCULOS_DEFORMITI_HEAD_FACE_SPINE_CHEST – Congenital musculoskeletal deformities of head, face, spine and chest
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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