Osteochondrodysplasia with defects of growth of tubular bones and spine

Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q77 Cause of death: ICD-10 — Q77 2 out of 7 registries used, show all original rules.	71
4. Check minimum number of events None	71
5. Include endpoints None	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

NAME	Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q77
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q77
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

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:

Similar with less cases:

Diastrofic dysplasy

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

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

Q77.82

ICD-10 Finland

Hair-cartilage hypoplasia

+∞

16.3

Z31.5

ICD-10 Finland

Genetic counselling

14.8

15.0

Q77.88

ICD-10 Finland

Other osteochondrodysplasia with defects of growth of tubular bones and spine

+∞

14.0

Q77.4

ICD-10 Finland

Achondroplasia

+∞

12.9

Q77.5

ICD-10 Finland

Dystrophic dysplasia

+∞

12.9

75640

ICD-8 Finland

Other congenital anomalies of musculoskeletal system, Other anomalies of ribs and sternum

+∞

10.7

NA7EA

NOMESCO Finland

Scoliosis X-ray examination

102.2

8.6

Q78.9

ICD-10 Finland

Osteochondrodysplasia, unspecified

+∞

8.5

7564A

ICD-9 Finland

Other congenital musculoskeletal anomalies, Chondrodystrophy

+∞

8.5

Q77.7

ICD-10 Finland

Spondyloepiphyseal dysplasia

+∞

7.4

RK110

NOMESCO Finland

44.6

6.9

NE1AA

NOMESCO Finland

Pelvis X-ray examination

11.8

6.9

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

10.1

6.4

Q77.6

ICD-10 Finland

Chondroectodermal dysplasia

+∞

6.3

Q77.2

ICD-10 Finland

Short rib syndrome

+∞

6.3

NFB60

NOMESCO Finland

Demanding prosthetic replacement of hip

+∞

6.3

M16.6

ICD-10 Finland

Other secondary coxarthrosis, bilateral

+∞

6.3

M48.0

ICD-10 Finland

Spinal stenosis

14.4

6.3

NF1AA

NOMESCO Finland

Hip X-ray examination

11.7

6.3

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

15.61

14.69

2.4

4.9

—

(3003458) Phosphate [Moles/volume] in Serum or Plasma

4.17

6.34

7.6

8.1

1.2

1.3

mmol/l

0.72

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

222

3.38

5.89

3.7

2.7

81.5

76.3

nmol/l

0.43

206

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

240

3.01

4.85

10.1

6.5

1.2

mmol/l

0.38

214

(4062490)

9.83

4.40

1.3

1.2

—

(42870588) Differential panel, method unspecified - Blood

208

2.78

4.30

10.9

8.9

—

(3023368) Bacteria identified in Blood by Culture

101

2.89

3.88

6.6

4.6

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

12.92

3.83

5.8

2.6

551.3

349.8

u/ml

—

(3032080) INR in Blood by Coagulation assay

162

2.62

3.73

7.7

8.8

1.3

1.2

inr

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

228

2.43

3.33

10.3

7.8

1.2

mmol/l

0.05

217

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

4.75

3.11

1.3

1.8

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

4.75

3.11

1.3

1.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.83

3.09

1.8

1.3

—

(40758558) Short blood count panel - Blood

167

2.38

3.05

17.0

9.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

4.86

2.89

3.0

1.1

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

242

2.23

2.75

3.9

4.0

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

202

2.18

2.60

5.9

5.5

37.2

37.0

g/l

0.07

194

(3042111) Morphology [Interpretation] in Bone marrow Narrative

7.57

2.59

2.8

3.4

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

362

2.29

2.57

16.2

11.7

4.1

3.8

e9/l

0.28

319

(3013115) Eosinophils [#/volume] in Blood

325

2.18

2.48

11.8

9.1

0.2

e9/l

0.13

298

(3006315) Basophils [#/volume] in Blood

318

2.13

2.39

9.7

8.3

0.0

e9/l

0.02

282

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

2.92

2.31

2.4

1.3

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

2.92

2.31

2.3

1.5

—

(3012544) pH of Venous blood

2.53

2.30

3.3

9.6

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

5.88

2.25

2.0

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

5.88

2.25

1.4

2.8

—

(3000991) Gas panel - Venous blood

2.52

2.18

6.1

10.4

—

(3001604) Monocytes [#/volume] in Blood

317

2.02

2.12

10.0

8.3

0.5

e9/l

0.24

281

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

3.76

2.11

16.4

15.3

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

3.33

2.08

1.1

1.6

—

(3000330) Specific gravity of Urine by Test strip

4.26

2.08

3.8

2.1

—

(3018095) Leukocytes [#/volume] in Urine

192

1.97

1.99

3.6

3.2

19.9

40.4

e6/l

0.44

138

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

110

2.14

1.99

2.6

2.5

—

(3045414) Leukocytes [Presence] in Urine

3.99

1.98

4.7

1.4

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

4.80

1.97

2.0

1.9

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

4.80

1.97

1.4

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

159

2.00

1.96

3.1

3.2

2.4

mmol/l

0.22

146

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

3.41

1.93

6.1

14.1

0.4

0.8

—

(3018418) pH of Serum or Plasma

136

2.02

1.89

7.4

3.2

7.4

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

4.39

1.85

2.8

1.5

8.7

7.9

mg/l

—

(3025130) Human papilloma virus identified in Specimen

4.39

1.85

1.0

1.8

—

(3021589) Normoblasts [#/volume] in Blood

297

1.90

1.85

13.5

9.6

0.0

e9/l

0.71

238

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

3.26

1.85

6.1

13.6

0.9

1.9

—

(36304419) Bacteria [Presence] in Urine

154

1.96

1.83

3.5

2.4

—

(3007164) IgA [Mass/volume] in Serum or Plasma

164

1.92

1.77

3.5

1.7

2.6

g/l

1.30

(3052851) Hemolysis interference index of Serum or Plasma

4.05

1.74

3.2

2.9

—

(3042936) Bacteria identified in Isolate by Culture

2.33

1.66

3.9

2.0

—

(3026008) Bacteria identified in Urine by Culture

142

1.92

1.65

3.3

2.5

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

1.56

0.0

1.3

—

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

2.08

1.54

3.3

2.5

5.3

3.2

e6/l

—

(3014007) Fractional oxyhemoglobin in Arterial blood

3.02

1.54

7.0

14.9

93.7

94.2

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

189

1.80

1.51

3.3

2.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

382

1.79

1.45

4.2

3.6

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

2.16

1.43

2.3

1.6

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

2.75

1.40

1.3

5.4

63.8

57.5

—

(3019060) Gas panel - Arterial blood

2.75

1.40

13.2

4.2

—

(40761535) Cells panel - Urine sediment

0.00

1.39

0.0

4.5

—

(3044640) Blood type and Crossmatch panel - Blood

159

1.77

1.36

5.3

2.4

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

182

0.48

1.35

1.6

1.7

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

128

0.42

1.33

3.2

2.4

—

(3035350) Ketones [Presence] in Urine by Test strip

269

1.69

1.32

2.8

3.3

0.0

estimate

—

(3023520) Reticulocytes [#/volume] in Blood

2.45

1.32

3.0

5.7

76.0

71.0

e9/l

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

570

2.24

1.26

19.4

12.1

138.6

139.6

mmol/l

2.36

558

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

157

1.69

1.16

1.8

1.7

94.2

100.2

pmol/l

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

1.82

1.11

2.9

3.2

7.9

344.1

ng/l

—

(3002256) Pathology report gross observation

1.99

1.10

1.4

1.1

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

1.80

1.08

3.3

2.4

0.3

0.7

e6/l

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

2.05

1.07

1.1

1.6

—

(3021601) Nitrite [Presence] in Urine by Test strip

271

1.57

1.05

3.8

4.3

0.0

estimate

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

1.00

0.0

1.6

—

(3009261) Glucose [Presence] in Urine by Test strip

274

1.55

0.99

2.9

3.3

0.0

estimate

—

(3003327) Ova and parasites identified in Stool by Light microscopy

2.33

0.96

1.2

1.6

—

(1002224) Polysomnography panel

2.33

0.96

1.0

1.1

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

114

0.48

0.93

3.2

2.3

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

1.85

0.92

1.6

2.9

2.5

2.4

mmol/l

0.39

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

157

1.58

0.91

2.0

3.7

8.6

16.8

ng/l

—

(3044889) 12 lead EKG panel

368

1.51

0.88

2.7

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

1.87

0.88

8.5

11.8

25.4

25.5

mmol/l

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

1.95

0.84

1.2

10.0

129.5

129.6

g/l

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

1.89

0.81

2.5

1.7

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.81

0.0

1.5

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.80

0.0

1.5

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.80

0.0

1.5

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.80

0.0

1.5

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.80

0.0

1.5

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

333

1.46

0.79

9.1

5.9

5.8

6.3

mmol/l

1.14

307

(3022145) Colonoscopy Study observation

1.73

0.77

1.3

1.5

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

2.07

0.74

2.6

1.6

—

(3022948) Iron [Moles/volume] in Serum or Plasma

1.70

0.73

2.8

2.2

14.1

15.2

umol/l

0.13

(40768797) Stomach Pathology biopsy report

1.74

0.73

1.1

1.4

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

1.99

0.72

1.2

6.6

26.0

23.7

mmol/l

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

1.99

0.72

1.0

1.1

—

(3020779) Urea [Moles/volume] in Serum or Plasma

1.70

0.69

8.4

12.2

7.6

5.4

mmol/l

—

(1761868) Lipid panel - Serum or Plasma

216

0.67

0.68

3.0

2.4

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

1.65

0.67

1.1

1.2

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

1.72

0.62

1.8

17.3

0.8

1.1

mg/l

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.61

0.0

1.5

—

(3022621) pH of Urine by Test strip

1.83

0.60

3.5

1.6

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.59

0.0

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.59

0.0

1.4

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

1.63

0.56

1.7

1.3

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

509

0.73

0.56

3.4

3.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

164

1.40

0.55

2.4

2.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

110

0.60

0.53

1.1

1.7

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

594

1.54

0.51

20.1

11.5

16.8

21.4

mg/l

1.00

435

(40760892) CBC W Ordered Manual Differential panel - Blood

140

1.38

0.48

5.5

5.6

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

150

0.68

0.48

1.5

1.7

1.4

1.3

mmol/l

0.10

134

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.41

0.0

2.3

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.41

0.0

1.3

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.41

0.0

1.3

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.41

0.0

1.3

—

(40768443) Skin Pathology biopsy report

0.00

0.41

0.0

1.1

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

0.00

0.40

0.0

1.5

—

4.0

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

1.46

0.40

2.2

3.9

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

0.00

0.39

0.0

1.5

—

1.6

—

(3011288) Drugs identified in Urine by Screen method

1.42

0.39

1.2

1.8

—

(40768804) Tissue Pathology biopsy report

212

1.28

0.37

1.9

1.7

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

1.51

0.37

6.0

4.0

24.2

24.8

mmol/l

—

(4035726)

1.47

0.36

2.3

1.5

—

(3022313) Gas panel - Capillary blood

1.43

0.36

6.7

4.1

—

(3016879) Cocaine [Presence] in Urine

1.40

0.35

1.7

1.4

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.21

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

1.27

0.21

1.7

1.3

—

(3027008) Opiates [Presence] in Urine

1.27

0.21

1.7

1.3

—

(3027944) Amphetamines [Presence] in Urine

1.24

0.20

1.7

1.3

—

(3000764) Benzodiazepines [Presence] in Urine

1.24

0.20

1.7

1.3

—

(4306422)

0.00

0.20

0.0

1.2

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.20

0.0

1.4

—

220.1

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.20

0.0

1.4

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

1.19

0.20

1.2

1.8

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

0.73

0.18

5.0

3.7

2.0

1.3

ug/l

—

(3009542) Hematocrit [Volume Fraction] of Blood

582

1.20

0.15

23.3

13.0

39.6

40.4

0.55

494

(46235355) HIV 1 and 2 tests - Meaningful Use set

168

0.86

0.13

2.0

2.2

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

221

1.13

0.13

2.3

3.2

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

134

1.15

0.12

1.9

1.4

—

(40761536) Microorganisms panel - Urine sediment

1.15

0.10

2.0

2.3

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

1.14

0.08

1.5

1.7

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

0.82

0.08

1.3

1.9

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

1.11

0.08

3.1

6.6

28.6

30.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.90

0.07

1.4

1.9

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

500

1.07

0.04

19.3

9.1

105.7

92.1

ml/min/173m2

3.43

389

(3020682) Albumin/Creatinine [Ratio] in Urine

112

1.09

0.03

3.0

3.7

4.2

14.7

mg/mmol

—

(3029937) Albumin [Presence] in Urine by Test strip

152

1.07

0.02

2.8

3.8

0.0

estimate

—

(3015736) pH of Urine

213

1.05

0.01

2.0

3.3

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

124

1.06

0.01

2.8

3.9

—

(3013512) EKG study

113

0.97

0.00

3.0

2.7

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

135

1.05

0.00

1.4

1.8

—

(3003694) ABO and Rh group [Type] in Blood

176

1.03

0.00

2.0

1.6

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.1

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.1

—

(3000494) Fungus identified in Specimen by Culture

0.87

0.00

2.4

1.3

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.1

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.1

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.1

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.1

—

(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum

0.00

0.0

1.6

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.8

—

1.6

—

(4094501)

0.00

0.0

1.0

—

(3035320) C reactive protein [Mass/volume] in Body fluid

0.00

0.0

1.0

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.2

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

1.7

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

0.0

1.2

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.4

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.3

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

2.3

—

29.5

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3005791) Eosinophil cationic protein (ECP) [Mass/volume] in Serum

0.00

0.0

2.2

—

14.6

—

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.0

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.2

—

(36660697) Celiac disease serology panel - Serum

0.97

0.00

1.1

1.2

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.6

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.2

—

(4027681)

0.00

0.0

1.2

—

(3015183) Erythrocyte sedimentation rate

0.00

0.0

1.0

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.2

—

5.4

—

(3021513) Carbon dioxide [Partial pressure] in Mixed venous blood

0.00

0.0

6.6

—

(3020717) Zinc [Moles/volume] in Serum or Plasma

0.00

0.0

2.4

—

13.7

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.0

1.1

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.3

—

(3038071) Oxygen [Partial pressure] in Mixed venous blood

0.00

0.0

6.6

—

(3000492) Spirometry study

0.90

0.00

2.3

1.3

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.4

—

92.4

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.0

8.3

—

655.0

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.0

19.3

—

1041.3

—

(3042299) inFLIXimab [Mass/volume] in Serum or Plasma

0.00

0.0

12.0

—

7.8

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.2

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.0

1.1

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE and mortality.

Females

No data

Males

No data

Mortality 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]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Osteochondrodysplasia with defects of growth of tubular bones and spine

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints