No definition available.
Other congenital musculoskeletal deformities
DOID EFO Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI
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. |
121 |
4. Check minimum number of eventsNone |
121 |
5. Include endpointsNone |
121 |
6. Filter based on genotype QC (FinnGen only) |
121 |
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
- Aliae deformitates musculosceletales congenitae
Similar endpoints
↥List of similar endpoints to
Other congenital musculoskeletal deformities
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 | 2341 | 1201 | 1140 |
| Only index persons | 1848 | 977 | 871 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.04 | 0.03 |
| Median age at first event (years) | |||
| Whole population | - | 5.95 | 2.58 |
| Only index persons | 8.22 | 9.78 | 6.48 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 121 | 86 | 35 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 15.16 | 15.89 | 13.38 |
-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
- 112
- Matched controls
- 1119
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q68.8
ICD-10 Finland
Other specified congenital musculoskeletal deformities
+∞
41.2
37
*
Q68.1
ICD-10 Finland
Congenital deformity of hand
+∞
35.3
32
*
Q68.0
ICD-10 Finland
Congenital deformity of sternocleidomastoid muscle
+∞
24.9
23
*
Q68.2
ICD-10 Finland
Congenital deformity of knee
+∞
17.1
16
*
NAL22
NOMESCO Finland
Myotomy or tenotomy of spine or neck
+∞
8.4
8
*
ZXE10
NOMESCO Finland
More than one and less than three hours
3.2
7.0
44
189
Q74.3
ICD-10 Finland
Arthrogryposis multiplex congenita
+∞
6.3
6
*
Q74.88
ICD-10 Finland
Other specified congenital malformations of limb(s)
+∞
6.3
6
*
ZXD10
NOMESCO Finland
Scheduled procedure
2.9
6.2
48
229
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3004119) Hemoglobin [Mass/volume] in Venous blood
12
29
4.48
4.75
4.3
14.2
g/l
125.4
131.9
0.54
12
29
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
19
71
2.99
4.05
8.3
16.5
mmol/l
24.3
24.4
0.10
19
71
(3000991) Gas panel - Venous blood
19
81
2.60
3.18
6.6
11.6
—
—
—
0
0
(3044889) 12 lead EKG panel
67
487
1.84
2.74
3.2
2.4
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
42
264
1.91
2.71
2.8
2.6
—
—
—
0
0
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
49
330
1.81
2.52
9.2
10.3
mmol/l
1.2
1.2
0.80
49
310
(3013826) Glucose [Moles/volume] in Serum or Plasma
65
479
1.77
2.45
5.6
5.9
mmol/l
5.7
6.1
1.24
59
422
(3027273) Bicarbonate [Moles/volume] in Venous blood
8
22
3.82
2.41
5.9
4.4
mmol/l
27.1
23.7
—
8
22
(3021901) Oxygen saturation in Capillary blood
7
17
4.30
2.40
2.4
16.4
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
9
29
3.27
2.28
9.8
27.9
—
—
—
0
0
(3018418) pH of Serum or Plasma
32
194
1.88
2.27
4.3
3.4
ph
7.4
7.4
—
9
27
(4198724)
5
9
5.74
2.23
2.0
1.2
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
8
25
3.35
2.13
4.1
15.1
%
1.0
1.6
—
8
25
(3032080) INR in Blood by Coagulation assay
33
212
1.77
1.93
6.1
4.9
inr
1.1
1.1
0.15
11
61
(3003458) Phosphate [Moles/volume] in Serum or Plasma
19
103
2.00
1.84
13.0
11.9
mmol/l
1.2
1.2
0.02
19
96
(3037467) Urinalysis macro (dipstick) panel - Urine
80
655
1.65
1.82
4.8
4.4
—
—
—
0
0
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
44
312
1.64
1.78
4.3
3.6
u/l
24.6
31.7
1.81
39
299
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
20
112
1.94
1.78
3.7
2.8
ng/l
74.1
384.5
0.75
12
58
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
23
136
1.85
1.74
2.0
3.6
e6/l
4.5
4.1
0.08
11
73
(3007853) Bacteria identified in Skin by Aerobe culture
21
122
1.87
1.68
1.5
1.6
—
—
—
0
0
(3020682) Albumin/Creatinine [Ratio] in Urine
21
122
1.87
1.68
3.3
4.2
mg/mmol
0.9
28.1
1.89
11
75
(3026782) Osmolality of Urine
24
146
1.80
1.67
3.4
2.8
mosm/kgh2o
536.1
569.1
0.22
24
123
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
23
141
1.78
1.56
2.0
3.5
e6/l
0.7
0.8
0.08
11
77
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
48
358
1.56
1.55
11.2
10.5
mmol/l
1.2
1.2
0.74
43
325
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
55
428
1.52
1.45
4.0
4.4
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
31
212
1.62
1.42
1.8
1.5
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
32
221
1.61
1.41
3.4
3.8
e6/l
0.2
0.2
0.06
26
164
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
6
23
2.69
1.38
7.2
5.0
%
53.6
65.0
—
6
23
(3019150) Specific gravity of Urine by Refractometry
31
215
1.59
1.34
4.3
3.7
kg/l
1.0
1.0
—
6
29
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
50
387
1.50
1.33
4.8
6.6
umol/l
12.1
12.6
0.05
44
361
(3023368) Bacteria identified in Blood by Culture
24
158
1.65
1.27
3.5
4.0
—
—
—
0
0
(4034850)
5
19
2.70
1.23
14.2
11.1
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
16
95
1.79
1.21
1.3
1.3
—
—
—
0
0
(3022948) Iron [Moles/volume] in Serum or Plasma
19
119
1.71
1.20
2.4
2.6
umol/l
13.6
14.1
0.12
19
114
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
13
72
1.90
1.20
1.6
1.6
—
—
—
0
0
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
6
26
2.37
1.20
10.2
14.4
%
0.6
0.7
—
6
26
(3052851) Hemolysis interference index of Serum or Plasma
6
26
2.37
1.20
1.8
2.8
—
—
—
0
0
(3014007) Fractional oxyhemoglobin in Arterial blood
6
26
2.37
1.20
10.2
14.4
%
96.1
95.0
—
6
26
(3014218) Bicarbonate [Moles/volume] standard in Arterial blood
6
26
2.37
1.20
10.5
13.7
mmol/l
22.8
24.4
—
6
26
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
6
26
2.37
1.20
10.2
14.4
%
1.3
1.4
—
6
26
(36304419) Bacteria [Presence] in Urine
32
230
1.53
1.18
3.3
3.8
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
33
0.00
1.18
0.0
2.5
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
5
20
2.56
1.16
1.2
1.7
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
31
223
1.52
1.14
4.6
4.2
estimate
0.0
0.0
—
10
82
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
43
333
1.45
1.11
5.1
3.7
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
26
181
1.56
1.10
2.2
1.9
—
—
—
0
0
(3015736) pH of Urine
47
371
1.44
1.09
3.6
3.4
—
—
—
0
0
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
72
615
1.42
1.07
8.5
6.6
u/l
83.4
82.4
0.05
67
575
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
37
282
1.45
1.03
4.5
4.0
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
34
255
1.46
1.02
3.2
4.0
e6/l
177.4
53.3
0.33
28
196
(42870588) Differential panel, method unspecified - Blood
42
329
1.42
1.01
4.8
8.0
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
18
117
1.63
1.01
2.1
2.1
—
—
—
0
0
(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation
14
85
1.73
0.99
9.1
11.3
mmol/l
1.2
1.0
—
8
60
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
29
0.00
0.99
0.0
2.5
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
7
36
2.00
0.99
1.4
1.3
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
55
454
1.39
0.97
4.6
3.8
estimate
0.0
0.0
—
10
82
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
29
213
1.48
0.97
2.6
2.0
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
29
213
1.48
0.97
2.3
2.4
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
112
1056
1.81
0.96
12.7
8.6
—
—
—
0
0
(3023024) Carbon dioxide [Partial pressure] in Capillary blood
14
86
1.71
0.96
9.1
11.3
kpa
5.0
5.0
0.23
14
81
(3021601) Nitrite [Presence] in Urine by Test strip
54
446
1.38
0.95
6.3
5.2
estimate
0.0
0.0
—
10
82
(3012516) Albumin [Mass/volume] in Urine
18
119
1.60
0.95
2.8
3.4
mg/l
72.9
198.9
—
9
78
(3007164) IgA [Mass/volume] in Serum or Plasma
23
313
0.67
0.91
1.9
1.4
g/l
1.8
1.9
0.28
14
191
(3000850) Epithelial cells [#/volume] in Urine
23
163
1.51
0.91
2.9
3.3
e6/l
4.4
6.8
1.11
23
144
(3022313) Gas panel - Capillary blood
12
72
1.74
0.89
9.6
11.6
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
31
236
1.42
0.86
1.8
1.6
pmol/l
99.8
98.7
0.05
17
123
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
6
31
1.98
0.85
2.2
1.2
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
36
282
1.39
0.85
2.6
2.4
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
54
452
1.35
0.85
4.1
3.7
estimate
0.0
0.0
—
10
84
(3048929) Epstein Barr virus Ab [Presence] in Serum
13
82
1.66
0.82
1.4
1.8
—
—
—
0
0
(3004789) Transferrin [Mass/volume] in Serum or Plasma
16
107
1.57
0.81
2.6
2.7
g/l
2.7
2.6
0.19
16
101
(3021589) Normoblasts [#/volume] in Blood
54
455
1.34
0.81
8.3
8.8
e9/l
0.0
0.0
0.00
46
354
(3014765) Yersinia sp identified in Stool by Organism specific culture
6
33
1.86
0.80
1.0
1.3
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
28
213
1.41
0.78
4.9
4.8
—
—
—
0
0
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
9
53
1.75
0.77
5.9
5.0
%
92.9
93.0
—
9
53
(42529406) Shigella sp [Presence] in Stool by Culture
6
34
1.80
0.77
1.0
1.3
—
—
—
0
0
(3028707) Methadone [Presence] in Urine by Screen method
9
54
1.72
0.76
1.8
1.7
—
—
—
0
0
(3035637) Corticotropin [Mass/volume] in Plasma
5
24
2.13
0.75
1.6
1.9
—
—
—
0
0
(3022621) pH of Urine by Test strip
9
56
1.66
0.74
5.3
2.1
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
27
206
1.40
0.74
2.9
2.4
ng/l
296.9
21.5
0.46
11
80
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
5
25
2.04
0.73
1.0
1.0
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
39
317
1.34
0.73
3.4
4.5
e6/l
95.1
49.5
0.22
30
199
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
7
42
1.71
0.69
2.0
1.3
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
5
27
1.89
0.69
1.4
1.5
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
10
62
1.67
0.67
2.5
3.0
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
28
1.82
0.67
1.4
1.6
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
5
29
1.75
0.64
1.2
1.1
—
—
—
0
0
(3019060) Gas panel - Arterial blood
5
29
1.75
0.64
8.2
19.6
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
5
30
1.69
0.62
1.2
1.1
—
—
—
0
0
(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum
0
20
0.00
0.61
0.0
1.1
—
13.2
—
0
6
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
13
89
1.52
0.61
2.2
1.4
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
8
52
1.58
0.61
1.0
1.1
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
12
81
1.53
0.59
1.3
1.7
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
23
0.00
0.59
0.0
1.0
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
6
36
1.70
0.57
2.8
1.9
—
—
—
0
0
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
6
37
1.65
0.56
1.7
1.1
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
15
110
1.42
0.52
1.6
1.4
—
—
—
0
0
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
10
67
1.54
0.51
1.4
1.5
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
13
93
1.45
0.50
2.2
1.5
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
10
142
0.68
0.50
1.1
1.2
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
31
259
1.26
0.47
4.3
3.4
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
26
213
1.28
0.46
4.0
3.5
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
10
70
1.47
0.43
10.5
9.5
mmol/l
24.4
24.1
—
10
70
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
10
70
1.47
0.43
2.8
2.0
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
5
33
1.54
0.42
1.0
1.3
—
—
—
0
0
(3023420) DNA double strand Ab [Units/volume] in Serum
0
15
0.00
0.41
0.0
1.4
—
—
—
0
0
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
8
60
1.36
0.41
3.9
5.1
—
—
—
0
0
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
6
41
1.49
0.36
3.2
2.2
ug/l
1.1
1.3
—
6
36
(40758558) Short blood count panel - Blood
29
248
1.22
0.36
5.6
9.3
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
84
793
1.19
0.35
8.8
8.0
ml/min/173m2
100.9
100.9
0.00
67
603
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
104
1002
1.27
0.34
13.7
10.7
mg/l
17.0
19.8
0.56
86
729
(3011288) Drugs identified in Urine by Screen method
6
88
0.67
0.34
3.2
1.9
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
7
96
0.71
0.32
2.0
1.5
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
36
320
1.18
0.30
2.4
2.0
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
11
86
1.31
0.27
1.5
1.4
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
5
71
0.69
0.27
1.8
1.4
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
5
71
0.69
0.27
1.8
1.4
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
5
73
0.67
0.27
1.8
1.5
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
9
76
1.20
0.25
1.9
1.3
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
31
343
0.87
0.22
2.5
2.3
—
—
—
0
0
(3013512) EKG study
17
145
1.20
0.22
4.1
2.8
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
8
104
0.75
0.22
2.1
1.2
—
—
—
0
0
(3036071) Salmonella sp Ab [Titer] in Serum
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
1.1
—
134.5
—
0
11
(3041806) Other cells [#/volume] in Blood by Manual count
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(3000093) Morphology [Interpretation] in Blood Narrative
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(3045424) Erythrocytes [Presence] in Urine
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3001684) Respiratory syncytial virus Ag [Presence] in Specimen
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3042299) inFLIXimab [Mass/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
6.2
—
7.3
—
0
10
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(4094501)
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
(3026389) Candida sp identified in Specimen by Organism specific culture
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
(3019897) Erythrocyte distribution width [Ratio] by Automated count
0
12
0.00
0.21
0.0
1.3
—
13.1
—
0
12
(3045683) HLA typing for celiac disease panel - Blood or Tissue
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(40765089) Chromosome analysis panel - Blood by G-banded
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
(3005082) Progesterone [Moles/volume] in Serum or Plasma
0
13
0.00
0.21
0.0
1.2
—
34.9
—
0
13
(3008832) Norclozapine [Moles/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
16.3
—
922.9
—
0
14
(3000081) cloZAPine [Moles/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
23.4
—
1881.2
—
0
14
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
15
128
1.20
0.19
2.3
1.7
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
103
1005
1.17
0.19
15.3
12.2
%
39.1
40.3
0.82
86
866
(3017446) Testosterone [Moles/volume] in Serum or Plasma
7
58
1.22
0.18
1.7
1.8
nmol/l
8.6
14.5
—
7
51
(3028026) IgM [Mass/volume] in Serum or Plasma
5
67
0.74
0.17
3.2
1.7
g/l
1.4
1.1
—
5
62
(3000963) Hemoglobin [Mass/volume] in Blood
116
1142
1.38
0.17
19.6
15.7
g/l
134.4
135.4
0.39
116
1132
(3010813) Leukocytes [#/volume] in Blood
116
1142
1.38
0.17
19.6
15.6
e9/l
6.9
6.7
0.31
116
1116
(3035941) MCH [Entitic mass]
116
1141
1.40
0.17
19.4
15.6
pg
29.6
29.8
0.39
116
1130
(3024731) MCV [Entitic volume]
116
1141
1.40
0.17
19.4
15.5
fl
88.6
88.8
0.13
116
1131
(3026361) Erythrocytes [#/volume] in Blood
116
1141
1.40
0.17
19.4
15.6
e12/l
4.6
4.6
0.03
116
1117
(3007461) Platelets [#/volume] in Blood
116
1140
1.42
0.17
19.7
15.7
e9/l
265.8
263.9
0.12
116
1116
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
95
974
0.89
0.16
4.5
4.0
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
19
169
1.15
0.16
1.7
1.5
—
—
—
0
0
(3000492) Spirometry study
7
85
0.81
0.15
1.9
1.2
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
10
84
1.21
0.14
2.3
1.7
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
36
337
1.10
0.13
1.8
1.8
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
14
158
0.87
0.13
1.2
1.3
u/ml
11.9
7.9
—
5
69
(3002256) Pathology report gross observation
12
106
1.15
0.10
1.0
1.2
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
18
196
0.90
0.09
1.7
1.6
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
32
338
0.93
0.09
1.4
1.4
u/ml
0.5
1.8
—
8
75
(3023520) Reticulocytes [#/volume] in Blood
5
48
1.04
0.09
1.6
5.3
e9/l
104.2
68.2
—
5
34
(3042936) Bacteria identified in Isolate by Culture
13
117
1.12
0.08
1.9
2.4
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
5
63
0.78
0.08
1.6
1.7
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
21
225
0.92
0.08
1.6
1.7
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
7
65
1.08
0.08
1.4
1.2
—
—
—
0
0
(3022145) Colonoscopy Study observation
8
75
1.07
0.07
1.6
1.4
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
7
84
0.82
0.07
2.0
1.4
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
7
84
0.82
0.07
2.0
1.4
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
7
84
0.82
0.07
2.0
1.4
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
7
84
0.82
0.07
2.0
1.4
—
—
—
0
0
(3048689) Calprotectin [Mass/mass] in Stool
21
198
1.07
0.06
3.5
2.6
ug/g
100.2
77.8
0.24
15
149
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
32
333
0.95
0.05
2.0
1.8
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
10
110
0.90
0.05
1.3
1.6
—
—
—
0
0
(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma
12
111
1.09
0.04
6.5
2.2
u/l
816.4
5063.3
—
5
45
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
38
387
0.97
0.01
2.4
1.8
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
11
111
0.99
0.00
1.8
1.5
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
11
111
0.99
0.00
1.3
1.5
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
12
121
0.99
0.00
1.8
1.4
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
12
121
0.99
0.00
1.8
1.4
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
17
169
1.01
0.00
1.5
1.3
iu/ml
136.6
22.6
—
5
55
(3003694) ABO and Rh group [Type] in Blood
36
362
0.99
0.00
1.8
1.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
41
412
0.99
0.00
2.7
2.2
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
14
137
1.02
0.00
1.4
1.1
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
29
285
1.02
0.00
2.2
1.8
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
12
122
0.98
0.00
1.8
1.5
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
12
122
0.98
0.00
1.8
1.5
—
—
—
0
0
(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
101
1006
1.02
0.00
11.7
8.4
u/l
23.0
25.3
1.05
101
974
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
37
374
0.98
0.00
2.5
2.4
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
12
115
1.05
0.00
1.7
1.5
—
—
—
0
0
(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
2.3
—
1.6
—
0
9
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
3.7
—
0
9
(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
1.1
—
0
9
(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
2.9
—
0
9
(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
7.7
—
0
9
(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
(3015183) Erythrocyte sedimentation rate
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
40.2
—
0
9
(1001926) Buprenorphine [Presence] in Urine by Screen method
9
96
0.93
0.00
2.0
1.5
—
—
—
0
0
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.2
—
83.2
—
0
9
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
11.3
—
0
9
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
9
0.00
0.00
0.0
5.1
—
25.9
—
0
9
(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis
0
9
0.00
0.00
0.0
1.0
—
0.0
—
0
9
(40761847) Hazelnut recombinant (rCor a) 8 IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
0.0
—
0
5
(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
9.0
—
—
—
0
0
(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(37020300) Entamoeba histolytica DNA [Presence] in Stool by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3028772) Osteocalcin [Mass/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(21491979) Prolactin monomeric [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
423.2
—
0
5
(3047169) Lambda light chains.free [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
17.1
—
0
5
(3019420) Tryptase [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
2.2
—
8.3
—
0
6
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(4027681)
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells
0
5
0.00
0.00
0.0
7.2
—
—
—
0
0
(3035947) Staphylolysin Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3034860) Kappa light chains.free [Mass/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
31.2
—
0
5
(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3031309) Prolactin monomeric/Prolactin.total in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
73.6
—
0
5
(3032868) Hemoglobin electrophoresis panel in Blood
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40768446) Kidney Pathology biopsy report
0
8
0.00
0.00
0.0
3.1
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3010838) Calcium [Moles/time] in 24 hour Urine
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027231) Wheat IgE Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(21494434) Karyotype in Bone marrow
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3005880) Parainfluenza virus 3 Ag [Presence] in Specimen
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3040370) OLANZapine [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
162.2
—
0
5
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.0
—
920.4
—
0
5
(3045209) Lutropin/Follitropin [Ratio] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3024932) HLA-DR beta [Type]
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3010464) Parainfluenza virus 1 Ag [Presence] in Specimen
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3045142) Bone marrow Pathology biopsy report
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(21491868) Cryoglobulin [Mass/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
7
71
0.99
0.00
6.7
3.9
—
—
—
0
0
(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells
0
5
0.00
0.00
0.0
7.2
—
—
—
0
0
(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006442) Creatine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3024471) HLA-A [Type]
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
8
0.00
0.00
0.0
4.8
—
34.1
—
0
8
(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline
0
6
0.00
0.00
0.0
1.3
—
5.3
—
0
6
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
5
54
0.92
0.00
1.4
1.5
—
—
—
0
0
(3021578) Parainfluenza virus 2 Ag [Presence] in Specimen
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(42868766) Dientamoeba fragilis DNA [Presence] in Stool by NAA with probe detection
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3028433) Virus identified in Specimen by Culture
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3023601) Vancomycin resistant enterococcus [Presence] in Specimen by Organism specific culture
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(4010399)
6
59
1.02
0.00
1.3
1.4
—
—
—
0
0
(3022670) pH of Venous cord blood
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3001186) Copper [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
20.3
—
0
5
(3022192) Triglyceride [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
9
95
0.94
0.00
1.0
1.0
—
—
—
0
0
(3013180) HIV 1 RNA [Units/volume] (viral load) in Serum or Plasma by Probe with amplification
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3041082) Glomerular basement membrane Ab [Titer] in Serum by Immunofluorescence
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3042733) HLA Ab [Presence] in Serum
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
(4146454)
0
7
0.00
0.00
0.0
2.6
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI.| 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_OTHER_CONGEN_MUSCULOS_DEFORMITI – Other congenital musculoskeletal deformities
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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