No definition available.
Osteochondrodysplasia with defects of growth of tubular bones and spine
Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
71 |
4. Check minimum number of eventsNone |
71 |
5. Include endpointsNone |
71 |
6. Filter based on genotype QC (FinnGen only) |
71 |
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
- Osteochondrodysplasia cum dysplasia ossium tubularium (longorum) et columnae vertebralis
Similar endpoints
↥List of similar endpoints to
Osteochondrodysplasia with defects of growth of tubular bones and spine
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 operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 792 | 463 | 328 |
| Only index persons | 647 | 381 | 266 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 13.08 | 14.89 | 10.36 |
| Only index persons | 18.07 | 21.85 | 12.66 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 71 | 48 | 23 |
| Unadjusted period prevalence (%) | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | 29.61 | 33.81 | 20.86 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 68
- Matched controls
- 681
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q77.9
ICD-10 Finland
Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
+∞
20.9
19
*
Q77.82
ICD-10 Finland
Hair-cartilage hypoplasia
+∞
16.3
15
*
Z31.5
ICD-10 Finland
Genetic counselling
14.8
15.0
26
27
Q77.88
ICD-10 Finland
Other osteochondrodysplasia with defects of growth of tubular bones and spine
+∞
14.0
13
*
Q77.5
ICD-10 Finland
Dystrophic dysplasia
+∞
12.9
12
*
Q77.4
ICD-10 Finland
Achondroplasia
+∞
12.9
12
*
75640
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Other anomalies of ribs and sternum
+∞
10.7
10
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
102.2
8.6
9
*
7564A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Chondrodystrophy
+∞
8.5
8
*
Q78.9
ICD-10 Finland
Osteochondrodysplasia, unspecified
+∞
8.5
8
*
Q77.7
ICD-10 Finland
Spondyloepiphyseal dysplasia
+∞
7.4
7
*
RK110
NOMESCO Finland
NA
44.6
6.9
8
*
NE1AA
NOMESCO Finland
Pelvis X-ray examination
11.8
6.9
12
12
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
10.1
6.4
12
14
NFB60
NOMESCO Finland
Demanding prosthetic replacement of hip
+∞
6.3
6
*
M16.6
ICD-10 Finland
Other secondary coxarthrosis, bilateral
+∞
6.3
6
*
Q77.6
ICD-10 Finland
Chondroectodermal dysplasia
+∞
6.3
6
*
Q77.2
ICD-10 Finland
Short rib syndrome
+∞
6.3
6
*
M48.0
ICD-10 Finland
Spinal stenosis
14.4
6.3
10
8
NF1AA
NOMESCO Finland
Hip X-ray examination
11.7
6.3
11
11
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE – Osteochondrodysplasia with defects of growth of tubular bones and spine
GWS hits: 2
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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