Edwards' syndrome and Patau's syndrome

Q17_EDWAR_SYNDR_PATAU_SYNDR

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 — Q91 Cause of death: ICD-10 — Q91 2 out of 7 registries used, show all original rules.	38
4. Check minimum number of events None	38
5. Include endpoints None	38
6. Filter based on genotype QC (FinnGen only)	38

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: Syndroma Edwards

NAME	Q17_EDWAR_SYNDR_PATAU_SYNDR
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	Q91
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q91
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 Edwards' syndrome and Patau's syndrome 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	683	434	246
Only index persons	398	285	113
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	13.01	19.78	0.82
Only index persons	26.29	32.75	10.00

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	38	27	11
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	34.59	34.87	33.92

-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

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

3.94

2.33

6.6

5.8

—

(3019060) Gas panel - Arterial blood

5.56

2.14

18.2

5.6

—

(3014007) Fractional oxyhemoglobin in Arterial blood

5.56

2.14

18.6

7.6

94.4

95.7

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.25

2.10

1.4

1.3

—

(3020891) Body temperature

5.05

2.00

20.8

7.9

—

(3000494) Fungus identified in Specimen by Culture

3.21

1.92

1.1

1.3

—

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

3.49

1.90

1.1

1.9

—

(40761535) Cells panel - Urine sediment

3.36

1.65

5.8

4.0

—

(3003396) Base excess in Arterial blood by calculation

3.36

1.65

15.8

4.8

0.5

2.1

mmol/l

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

1.64

0.0

1.8

—

(3023368) Bacteria identified in Blood by Culture

2.46

1.59

5.6

3.2

—

(3000991) Gas panel - Venous blood

2.55

1.24

11.2

5.4

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

1.22

0.0

1.6

—

(3042936) Bacteria identified in Isolate by Culture

2.53

1.18

2.3

1.5

—

(21494755) Public health laboratory ask at order entry panel

2.20

1.17

1.5

1.3

—

(4010399)

0.00

0.82

0.0

1.4

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

1.86

0.75

3.4

3.1

3649.7

1077.0

ng/l

—

(3024354) Oxygen [Partial pressure] in Venous blood

2.06

0.73

8.8

7.7

5.1

5.4

kpa

—

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

1.76

0.66

2.7

2.0

—

(3012544) pH of Venous blood

1.83

0.66

13.2

7.0

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

1.83

0.66

13.2

7.0

5.7

5.8

kpa

—

(3016879) Cocaine [Presence] in Urine

0.00

0.62

0.0

1.6

—

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

1.62

0.60

1.9

1.4

—

(3013512) EKG study

1.56

0.58

3.7

2.7

—

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

1.56

0.53

5.2

2.8

—

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

1.61

0.50

6.2

3.7

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

1.52

0.49

2.1

3.1

29.4

29.7

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.57

0.47

1.3

1.4

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.42

0.0

2.1

—

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

0.00

0.42

0.0

1.5

—

3.7

—

(36304419) Bacteria [Presence] in Urine

1.50

0.42

3.6

2.2

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.42

0.0

1.6

—

178.1

—

(40768804) Tissue Pathology biopsy report

109

1.45

0.41

2.7

1.9

—

(3033658) Prothrombin time (PT) actual/Normal

1.50

0.39

5.0

4.5

102.2

93.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.64

0.38

1.5

2.3

—

(3000850) Epithelial cells [#/volume] in Urine

1.37

0.31

3.6

1.9

5.2

6.2

e6/l

—

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

0.70

0.27

3.8

2.1

—

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

263

0.76

0.25

4.3

3.6

—

(3044640) Blood type and Crossmatch panel - Blood

1.33

0.24

2.6

2.0

—

(40768793) Breast Pathology biopsy report

0.00

0.22

0.0

1.3

—

(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma

0.00

0.22

0.0

1.2

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.22

0.0

1.1

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.22

0.0

1.4

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.22

0.0

1.4

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.22

0.0

1.5

—

54.6

—

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

0.00

0.22

0.0

1.2

—

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

0.00

0.22

0.0

1.2

—

(3009041) Cardiolipin IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.22

0.0

1.1

—

4.0

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.22

0.0

2.5

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.21

0.0

1.6

—

(3026782) Osmolality of Urine

1.27

0.21

4.3

2.0

544.8

618.6

mosm/kgh2o

—

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

0.00

0.20

0.0

1.5

—

(1761868) Lipid panel - Serum or Plasma

120

0.77

0.20

1.6

2.5

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

316

1.34

0.18

15.9

11.8

72.5

69.8

umol/l

0.13

316

(40760892) CBC W Ordered Manual Differential panel - Blood

0.75

0.17

3.7

6.0

—

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

1.20

0.17

1.9

1.7

—

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

0.75

0.16

3.0

1.5

—

(3044889) 12 lead EKG panel

183

1.20

0.14

2.6

2.8

—

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

1.10

0.10

3.0

2.9

2.4

mmol/l

—

(42870588) Differential panel, method unspecified - Blood

112

0.85

0.08

5.4

7.1

—

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

0.80

0.08

3.7

1.7

—

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

119

1.14

0.07

5.0

3.0

—

(3015736) pH of Urine

119

0.89

0.04

5.9

3.1

—

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

261

1.12

0.04

13.9

10.0

89.5

89.7

ml/min/173m2

0.02

206

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

278

1.03

0.00

3.4

5.6

mmol/l

0.00

258

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

137

1.03

0.00

3.8

3.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

208

1.02

0.00

4.5

3.4

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.5

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

1.5

—

(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood

0.00

0.0

3.0

—

33.0

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.3

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.0

2.5

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

6.7

—

32.5

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.3

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.0

3.1

—

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

0.00

0.0

3.0

—

6.3

—

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

0.00

0.0

1.0

—

(44790047)

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

5.8

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.6

—

(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma

0.00

0.0

7.6

—

0.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

(3045781) Inhibin B [Mass/volume] in Serum or Plasma

0.00

0.0

2.2

—

141.8

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.0

1.1

—

86.4

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

3.4

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.1

—

(44790049)

0.00

0.0

1.4

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.0

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

0.0

1.7

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(4268621)

0.00

0.0

2.1

—

(3029634) Reagin Ab [Titer] in Serum by VDRL

0.00

0.0

1.6

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

(44806118)

0.00

0.0

1.4

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.0

—

(3026008) Bacteria identified in Urine by Culture

0.95

0.00

4.1

2.2

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

0.92

0.00

1.7

4.3

33.2

28.8

u/l

—

(40758558) Short blood count panel - Blood

0.90

0.00

15.4

7.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.1

—

107.3

—

(44790048)

0.00

0.0

1.4

—

(3006245) CD3-CD19+ cells/100 cells in Blood

0.00

0.0

3.0

—

6.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(4306422)

0.00

0.0

1.1

—

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

0.00

0.0

3.0

—

1.4

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.3

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_EDWAR_SYNDR_PATAU_SYNDR and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_EDWAR_SYNDR_PATAU_SYNDR	8.794 [5.75, 13.44]	< 0.001
Birth year	0.993 [0.98, 1.0]	0.085

During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 303 females with Q17_EDWAR_SYNDR_PATAU_SYNDR died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_EDWAR_SYNDR_PATAU_SYNDR.

N-year risk	Females	Males
1	0.699%	No data
5	3.929%	No data
10	10.5%	No data
15	20.078%	No data
20	33.019%	No data

Relationships between endpoints

↥

Index endpoint: Q17_EDWAR_SYNDR_PATAU_SYNDR – Edwards' syndrome and Patau's syndrome

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

Edwards' syndrome and Patau's syndrome

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