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 |
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. |
463 |
4. Check minimum number of eventsNone |
463 |
5. Include endpointsNone |
463 |
6. Filter based on genotype QC (FinnGen only) |
463 |
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 | 463 | 205 | 258 |
| Unadjusted period prevalence (%) | 0.09 | 0.07 | 0.11 |
| Median age at first event (years) | 21.55 | 27.14 | 17.12 |
-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
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
- 408
- Matched controls
- 4082
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q67.6
ICD-10 Finland
Pectus excavatum
2699.0
182.7
163
*
GAF03
NOMESCO Finland
Correction of pectus excavatum
+∞
61.0
57
*
GAF10
NOMESCO Finland
Removal of prosthetic material after correction of malformation of chest wall
+∞
58.8
55
*
Q67.48
ICD-10 Finland
Other specified congenital deformity of skull, face or jaw
+∞
54.4
51
*
Q67.4
ICD-10 Finland
Other congenital deformities of skull, face and jaw
+∞
50.0
47
*
Q67.7
ICD-10 Finland
Pectus carinatum
501.1
46.2
45
*
Q67.0
ICD-10 Finland
Facial asymmetry
+∞
33.8
32
*
DJD20
NOMESCO Finland
Plastic repair of septum of nose
11.1
29.3
57
59
Q67.3
ICD-10 Finland
Plagiocephaly
277.2
26.0
26
*
Q67.5
ICD-10 Finland
Congenital deformity of spine
+∞
25.3
24
*
Q67.40
ICD-10 Finland
Other congenital deformities of skull, face and jaw
+∞
24.2
23
*
Q67.8
ICD-10 Finland
Other congenital deformities of chest
+∞
20.0
19
*
ZXD10
NOMESCO Finland
Scheduled procedure
2.7
18.2
175
898
WX408
NOMESCO Finland
General anesthesy, balanced
2.7
16.5
140
660
ZXE20
NOMESCO Finland
More than three and less than five hours
3.7
15.5
72
222
WX302
NOMESCO Finland
Thoracal epidural anesthesy
7.6
15.4
36
51
ZXE10
NOMESCO Finland
More than one and less than three hours
2.5
15.3
151
769
Z31.5
ICD-10 Finland
Genetic counselling
5.0
14.8
49
109
AA6AD
NOMESCO Finland
Cranial bones CT examination
55.3
13.9
16
*
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
16.5
12.3
19
12
ZXE00
NOMESCO Finland
One hour or less
2.2
12.0
175
1048
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
17.0
11.8
18
11
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.2
11.7
152
860
K07.10
ICD-10 Finland
Asymmetry of jaw
66.9
11.7
13
*
75630
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Pectus excavatum
+∞
11.5
11
*
DLD20
NOMESCO Finland
Rhinoplasty
36.1
11.3
14
*
ZZF00
NOMESCO Finland
Graft of adipose tissue
25.9
11.2
15
6
ZZG00
NOMESCO Finland
Graft of cartilage
61.6
10.7
12
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.0
10.5
63
233
Q37.1
ICD-10 Finland
Cleft hard palate with unilateral cleft lip
+∞
10.5
10
*
Q67.2
ICD-10 Finland
Dolichocephaly
+∞
10.5
10
*
EEC05
NOMESCO Finland
Le Fort I osteotomy
41.1
10.0
12
*
N02AX02
ATC
tramadol; systemic, rectal
2.1
9.5
123
685
7548A
ICD-9 Finland
Certain congenital musculoskeletal deformities, Other specified nonteratogenic anomalies[PECTUS EXCAVATUM]
+∞
9.4
9
*
XXA00
NOMESCO Finland
Clinical examination requiring general anaesthesia
16.0
9.1
14
9
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.3
8.5
85
420
5853
FHL
Anterior thoracoplasty (funnel breast, chicken breast)
+∞
8.4
8
*
GAD00
NOMESCO Finland
Thoracoplasty without plombage
+∞
8.4
8
*
TPH07
NOMESCO Finland
Cathetrisation of artery
3.3
8.0
40
131
M41.4
ICD-10 Finland
Neuromuscular scoliosis
81.5
7.4
8
*
Q17.2
ICD-10 Finland
Microtia
81.5
7.4
8
*
R4110
NOMESCO Finland
Physiotherapy
2.1
7.4
95
519
Q87.03
ICD-10 Finland
Syndrome Goldenhar
+∞
7.3
7
*
5859
FHL
Other operations in this group (eg removal of fixation plate)
+∞
7.3
7
*
M41.9
ICD-10 Finland
Scoliosis, unspecified
8.2
7.2
15
19
EDC10
NOMESCO Finland
Sagittal osteotomy of ramus of mandible
20.4
7.2
10
5
SBB00
NOMESCO Finland
Fotograf of mouth and teeth
3.2
7.0
35
116
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.1
6.8
85
461
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.2
6.6
73
375
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.2
6.5
70
354
SJX10
NOMESCO Finland
Short check-up visit for orthodontisk therapy
2.6
6.5
48
202
Q87.09
ICD-10 Finland
Other congenital malformations that mainly affect the appearance of the face
70.9
6.4
7
*
QAE40
NOMESCO Finland
Repair of anomaly or lesion after disease of skin of head or neck
18.4
6.3
9
5
GAF96
NOMESCO Finland
Other correction of malformation of chest wall
+∞
6.3
6
*
Q75.00
ICD-10 Finland
Coronary craniosynostosis
+∞
6.3
6
*
Q87.4
ICD-10 Finland
Marfan syndrome
27.1
6.2
8
*
-69
ICPC
Other reason for encounter NEC
4.3
6.1
21
51
SAA03
NOMESCO Finland
Extended examination of mouth
1.7
6.1
188
1375
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: -
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
Loading data