Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Q17_OTHER_TRISOMI_PARTIAL_TRISOMI_AUTOSOMES_NOT_ELSEW_CLASSIFIED

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 — Q92 Cause of death: ICD-10 — Q92 2 out of 7 registries used, show all original rules.	44
4. Check minimum number of events None	44
5. Include endpoints None	44
6. Filter based on genotype QC (FinnGen only)	44

Control definitions (FinnGen only)

Control exclude: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q9
Name in latin: Aliae trisomiae totales et partiales autosomatum non alibi classificatae

NAME	Q17_OTHER_TRISOMI_PARTIAL_TRISOMI_AUTOSOMES_NOT_ELSEW_CLASSIFIED
CONTROL_EXCLUDE	Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q92
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q92
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 Other trisomies and partial trisomies of the autosomes, not elsewhere classified based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

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	701	346	355
Only index persons	488	255	233
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	-	9.28	6.32
Only index persons	11.76	13.51	9.83

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	44	22	22
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	21.70	25.37	18.04

-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

Not a core endpoint, no data to show.

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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3044640) Blood type and Crossmatch panel - Blood

3.12

3.14

2.8

3.2

—

(3033658) Prothrombin time (PT) actual/Normal

3.04

3.08

7.2

5.4

91.7

88.8

0.17

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

3.04

2.76

2.6

3.3

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

5.33

2.72

2.9

227.1

173.7

ng/l

—

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

120

2.67

2.54

3.5

4.4

—

(3013005) Retinol [Moles/volume] in Serum or Plasma

6.87

2.43

1.8

5.1

2.5

1.8

umol/l

—

(3032080) INR in Blood by Coagulation assay

2.69

2.33

5.2

1.1

inr

—

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

4.78

2.23

5.2

2.4

—

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

127

2.46

2.19

26.9

12.4

1.2

mmol/l

0.55

122

(42870588) Differential panel, method unspecified - Blood

145

2.44

2.16

10.6

10.5

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

4.45

2.12

51.8

12.1

25.7

24.7

mmol/l

—

(3023368) Bacteria identified in Blood by Culture

2.60

2.11

4.4

4.1

—

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

3.16

2.07

9.0

14.3

8.7

6.4

mmol/l

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

3.76

2.06

5.6

7.4

107.6

88.2

—

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

3.39

2.05

11.8

19.4

1.4

1.2

mg/l

—

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

3.91

1.91

52.3

11.4

—

(3009508) Creatinine [Moles/volume] in Urine

2.32

1.80

4.2

4.8

7.2

8.4

mmol/l

0.56

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

123

2.15

1.61

5.3

3.4

83.7

71.2

nmol/l

0.69

112

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

3.62

1.57

3.0

8.5

183.6

203.7

—

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

3.14

1.56

3.0

1.6

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

2.38

1.56

2.0

3.4

3.8

2.4

mg/l

—

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

2.43

1.54

9.4

17.0

26.5

24.9

mmol/l

0.83

(3007853) Bacteria identified in Skin by Aerobe culture

2.56

1.51

2.1

1.6

—

(3020630) Protein [Mass/volume] in Serum or Plasma

3.38

1.48

1.8

1.3

68.2

66.0

g/l

—

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

3.18

1.40

2.4

2.5

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

2.56

1.35

3.4

4.9

213.6

239.9

u/l

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

2.16

1.29

3.9

2.6

99.6

128.2

u/l

0.53

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

178

1.94

1.28

21.1

7.0

6.3

6.5

mmol/l

0.28

164

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

1.99

1.25

4.8

2.7

2.3

2.4

mmol/l

0.33

(3042936) Bacteria identified in Isolate by Culture

2.28

1.23

2.0

1.8

—

(3023103) Potassium [Moles/volume] in Serum or Plasma

331

2.56

1.22

28.8

13.2

4.0

3.9

mmol/l

0.11

323

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

331

2.56

1.22

28.7

13.2

139.3

139.5

mmol/l

0.14

322

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

2.19

1.17

10.2

7.8

5.2

5.1

kpa

—

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

1.98

1.15

2.1

1.7

1.6

1.2

mmol/l

0.57

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

1.92

1.07

1.6

3.3

59.3

56.4

u/l

0.15

(3000991) Gas panel - Venous blood

2.06

1.02

37.6

9.4

—

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

1.85

1.01

1.7

1.5

—

(3012544) pH of Venous blood

1.96

0.97

8.0

9.7

—

(3006504) Eosinophils/100 leukocytes in Blood

189

1.75

0.97

12.8

9.6

3.0

3.2

0.11

182

(3019069) Monocytes/100 leukocytes in Blood

189

1.75

0.97

12.9

9.9

8.9

8.3

0.30

182

(3013512) EKG study

2.05

0.94

4.6

3.4

—

(40758558) Short blood count panel - Blood

107

1.78

0.93

8.6

7.7

—

(3020961) Endomysium IgA Ab [Titer] in Serum

2.01

0.85

1.2

1.5

—

(3002030) Lymphocytes/100 leukocytes in Blood

196

1.64

0.79

12.8

9.4

28.4

31.7

0.83

190

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

1.77

0.78

1.5

1.9

123.8

94.2

pmol/l

—

(36304419) Bacteria [Presence] in Urine

103

1.69

0.78

3.1

4.0

—

(3000494) Fungus identified in Specimen by Culture

2.22

0.77

1.4

—

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

1.69

0.69

6.9

3.3

0.0

estimate

—

(3018010) Neutrophils/100 leukocytes in Blood

192

1.55

0.66

13.1

9.3

55.7

53.8

0.29

186

(40761536) Microorganisms panel - Urine sediment

1.75

0.63

2.4

4.1

—

(3002256) Pathology report gross observation

1.75

0.63

1.0

1.2

—

(3008898) HLA-B27 [Presence]

0.00

0.61

0.0

1.0

—

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

1.63

0.59

2.2

1.8

—

(3022096) Basophils/100 leukocytes in Blood

186

1.50

0.58

13.7

9.8

0.6

0.10

179

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

360

1.73

0.52

20.9

11.6

23.5

23.3

mg/l

0.01

249

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

1.54

0.51

4.5

2.6

139.0

24.9

ng/l

—

(3022313) Gas panel - Capillary blood

1.51

0.49

10.3

7.9

—

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

153

1.43

0.46

6.4

3.2

0.0

estimate

—

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

154

1.41

0.44

8.7

4.5

0.0

estimate

—

(3002385) Erythrocyte distribution width [Ratio]

330

1.50

0.44

30.6

16.5

13.5

13.3

0.39

324

(3034274) Bile acid [Moles/volume] in Serum --fasting

0.00

0.42

0.0

4.3

—

37.0

—

(40768797) Stomach Pathology biopsy report

1.53

0.42

1.8

1.3

—

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

133

0.68

0.41

1.7

1.8

—

(1002224) Polysomnography panel

0.00

0.41

0.0

1.1

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.41

0.0

1.2

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.41

0.0

1.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.50

0.41

5.3

5.7

—

(3026008) Bacteria identified in Urine by Culture

1.36

0.40

3.1

2.8

—

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

157

1.37

0.39

6.6

3.2

0.0

estimate

—

(3044889) 12 lead EKG panel

187

1.35

0.37

3.8

2.6

—

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

1.46

0.37

2.3

1.6

—

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

120

1.38

0.36

2.0

1.5

1.9

g/l

—

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

1.42

0.36

2.5

1.7

—

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

248

1.35

0.35

21.3

9.4

98.3

96.2

ml/min/173m2

0.13

194

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

251

0.75

0.34

8.1

4.0

42.5

38.3

mmol/mol

0.92

238

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

112

1.37

0.34

6.2

2.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.35

0.32

2.1

1.7

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

252

1.31

0.29

3.5

3.6

14.2

14.5

pmol/l

0.25

231

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

344

0.74

0.28

4.0

3.9

—

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

1.27

0.27

5.8

3.2

—

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

0.69

0.27

2.3

2.5

—

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

127

1.27

0.24

6.7

3.6

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.21

0.0

1.9

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.4

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.21

0.0

2.3

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

0.00

0.21

0.0

1.6

—

1.3

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.21

0.0

2.6

—

1.1

—

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

0.00

0.21

0.0

1.2

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.21

0.0

1.0

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.20

0.0

2.0

—

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

0.00

0.20

0.0

2.1

—

(3020891) Body temperature

0.00

0.20

0.0

5.4

—

(36660697) Celiac disease serology panel - Serum

1.18

0.20

1.5

1.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.23

0.14

6.9

2.9

—

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

106

1.18

0.11

1.9

2.2

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

226

1.14

0.09

4.0

3.9

29.5

35.6

u/l

0.64

217

(40761511) CBC panel - Blood by Automated count

369

1.22

0.08

17.7

9.6

—

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

0.79

0.08

2.2

2.4

—

(3015736) pH of Urine

118

1.14

0.08

4.7

2.7

—

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

1.04

0.07

1.3

1.7

—

(40768804) Tissue Pathology biopsy report

0.83

0.07

2.0

1.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

227

1.03

0.00

6.5

4.0

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

1.7

—

5.1

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

0.0

1.3

—

1.1

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

2.3

—

17.4

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

0.0

3.0

—

(3009550) Parvovirus B19 IgG Ab [Titer] in Serum

0.00

0.0

1.1

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.1

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.0

3.6

—

19.3

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

0.0

3.0

—

(3014051) Protein [Presence] in Urine by Test strip

0.00

0.0

1.6

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.1

—

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

0.00

0.0

1.7

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.2

—

(37020300) Entamoeba histolytica DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.89

0.00

2.0

1.6

—

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

0.86

0.00

1.2

1.8

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.8

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.4

—

147.8

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

1.3

—

(3005011) Chlamydia sp Ab [Titer] in Serum

0.00

0.0

1.2

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

1.4

—

3.9

—

(1761868) Lipid panel - Serum or Plasma

0.90

0.00

3.4

2.4

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

0.0

1.3

—

5.8

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

2.2

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

0.0

1.5

—

12.8

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

2.2

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.0

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

0.0

1.0

—

(3026285) Alpha 1 antitrypsin [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

1.3

—

(42868766) Dientamoeba fragilis DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(3009542) Hematocrit [Volume Fraction] of Blood

372

0.97

0.00

32.6

14.6

38.3

40.8

1.91

335

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

1.4

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

1.4

—

108.2

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.0

1.0

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

1.2

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

(3020191) Ethanol [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

1.5

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

-0.00

0.0

7.1

—

54.4

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

-0.00

0.0

7.0

—

3.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_TRISOMI_PARTIAL_TRISOMI_AUTOSOMES_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_TRISOMI_PARTIAL_TRISOMI_AUTOSOMES_NOT_ELSEW_CLASSIFIED.

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_TRISOMI_PARTIAL_TRISOMI_AUTOSOMES_NOT_ELSEW_CLASSIFIED – Other trisomies and partial trisomies of the autosomes, not elsewhere classified

GWS hits: -

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

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints