Secondary sideroblastic anaemia

D3_SIDEROANASCND

anemia (phenotype): ['A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.']

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — D64.1, D64.2# Hospital discharge: ICD-9 — 2850B Cause of death: ICD-10 — D64.1, D64.2# Cause of death: ICD-9 — 2850B 2 out of 7 registries used, show all original rules.	128
4. Check minimum number of events None	128
5. Include endpoints None	128
6. Filter based on genotype QC (FinnGen only)	108

Control definitions (FinnGen only)

Control exclude: D3_APLASTICANDOTHANAEMIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2

NAME	D3_SIDEROANASCND
CONTROL_EXCLUDE	D3_APLASTICANDOTHANAEMIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D64[1-2]
HD_ICD_9	2850B
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D64[1-2]
COD_ICD_9	2850B
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Secondary sideroblastic anaemia based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Secondary sideroblastic anaemia due to drugs and toxins

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	1282	722	533
Only index persons	764	448	316
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.01
Only index persons	0.01	0.02	0.01
Median age at first event (years)
Whole population	73.93	74.43	73.16
Only index persons	71.08	70.32	72.17

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	108	57	51
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	68.72	64.66	73.26

-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

↥

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
110: Matched controls
1100

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D64.1

ICD-10 Finland

Secondary sideroblastic anaemia due to disease

+∞

101.3

D64.9

ICD-10 Finland

Anaemia, unspecified

62.8

99.8

D64.2

ICD-10 Finland

Secondary sideroblastic anaemia due to drugs and toxins

+∞

30.7

B03XA02

ATC

darbepoetin alfa; parenteral

26.7

14.9

A49.9

ICD-10 Finland

Bacterial infection, unspecified

5.8

14.5

ZX120

NOMESCO Finland

Intravenous

5.4

12.4

A04AA01

ATC

ondansetron; systemic, rectal

5.9

12.1

128

Kela drug reimbursment

Cancers of female genital organs

28.6

11.5

WW500

NOMESCO Finland

Blood transfusion

11.9

11.1

D46.1

ICD-10 Finland

Refractory anaemia with ring sideroblasts

+∞

10.6

L03AA02

ATC

filgrastim; parenteral

13.2

10.0

XW000

NOMESCO Finland

Bone marrow biopsy

14.2

9.7

UJF32

NOMESCO Finland

Coloscopy

3.6

9.3

185

N18.9

ICD-10 Finland

Chronic kidney disease, unspecified

5.3

9.0

D50.9

ICD-10 Finland

Iron deficiency anaemia, unspecified

5.1

8.3

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

3.2

7.9

216

D39.10

ICD-10 Finland

Tumor of uncertain or unknown nature in the ovary without histology

20.1

7.8

C56

ICD-10 Finland

Malignant neoplasm of ovary

85.6

7.5

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

17.3

7.4

Z48.0

ICD-10 Finland

Attention to surgical dressings and sutures

13.3

7.3

C56.71

ICD-10 Finland

Serous epithelial malignant tumor of the ovary

32.4

7.3

C03CA01

ATC

furosemide; systemic

2.9

7.1

320

D46.9

ICD-10 Finland

Myelodysplastic syndrome, unspecified

42.8

6.8

L03AA13

ATC

pegfilgrastim; parenteral

6.7

6.6

SPAT1088

SPAT

Blood transfusion

74.0

6.5

D50.0

ICD-10 Finland

Iron deficiency anaemia secondary to blood loss (chronic)

8.5

6.3

R2120

NOMESCO Finland

Counselling and guidance concerning rehabilitation services and social security

+∞

6.3

A04AA55

ATC

palonosetron, combinations; systemic

7.5

6.3

117

Kela drug reimbursment

Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue

7.5

6.3

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.7

6.1

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(4281824) Cell count and differential, peritoneal fluid

15.09

7.06

1.5

1.0

—

(3025159) Blasts/Leukocytes in Blood

3.76

6.10

6.3

6.6

0.50

0.00

—

(3017181) Myelocytes/Leukocytes in Blood

3.62

6.01

6.6

5.6

1.70

0.90

—

(3021440) Promyelocytes/Leukocytes in Blood

3.48

5.26

6.6

5.9

0.13

0.17

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

3.81

4.96

1.6

1.2

—

(3002179) Metamyelocytes/Leukocytes in Blood

3.38

4.83

5.9

5.7

1.00

0.29

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

142

2.65

4.61

4.4

2.8

0.82

0.81

mmol/l

0.38

134

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

7.21

4.58

2.1

1.5

—

(3045142) Bone marrow Pathology biopsy report

12.33

4.33

1.3

1.0

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

7.43

4.25

2.9

1.6

—

(3044640) Blood type and Crossmatch panel - Blood

257

2.27

4.09

8.1

2.4

—

(21494434) Karyotype in Bone marrow

12.58

3.81

1.5

1.0

—

(43055120) Cytomegalovirus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

8.21

3.61

6.9

1.8

—

(4035726) Immunohistochemistry procedure

2.81

3.61

1.8

1.3

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

222

2.17

3.48

2.8

1.9

3.09

2.84

mg/l

0.31

195

(3000991) Gas panel - Venous blood

2.71

2.95

9.8

—

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

365

1.94

2.92

8.5

2.7

—

estimate

—

(3024172) Erythropoietin (EPO) [Units/volume] in Serum or Plasma

6.97

2.90

1.3

1.2

70.28

12.83

u/l

—

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

106

2.34

2.87

1.4

—

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

4.70

2.85

1.5

1.3

—

(3010421) pH of Blood

4.16

2.84

2.9

2.2

7.41

7.43

—

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

189

2.07

2.84

2.0

1.4

—

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

136

2.19

2.81

4.3

2.8

4.87

2.60

e6/l

0.55

(40768806) Pleura Pathology biopsy report

8.65

2.77

1.2

1.3

—

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

2.87

2.73

6.2

8.4

25.26

25.12

mmol/l

0.06

(3023368) Bacteria identified in Blood by Culture

269

1.91

2.61

8.5

3.8

—

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

315

1.86

2.52

4.5

3.2

—

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

2.43

2.41

2.6

1.3

—

(3012544) pH of Venous blood

2.33

5.6

3.7

7.35

7.38

1.07

(3007853) Bacteria identified in Skin by Aerobe culture

2.25

2.27

1.6

1.5

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.48

2.25

1.4

2.3

—

(3021589) Normoblasts [#/volume] in Blood

362

1.76

2.20

31.0

12.0

0.06

0.01

e9/l

0.42

296

(1616796) Gas panel - Central venous blood

3.86

2.19

1.3

2.6

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

5.18

2.09

4.0

1.8

34.40

32.00

—

(3018095) Leukocytes [#/volume] in Urine

339

1.74

2.08

7.1

4.1

23.21

85.98

e6/l

1.45

239

(3019150) Specific gravity of Urine by Refractometry

201

1.83

2.05

4.3

4.8

1.02

kg/l

0.19

134

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

3.90

1.96

1.3

2.5

—

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

3.32

1.91

3.0

2.3

2.46

1.62

mg/l

—

(3013290) Carbon dioxide [Partial pressure] in Blood

3.67

1.86

1.3

1.7

4.70

4.99

kpa

—

(3027315) Oxygen [Partial pressure] in Blood

3.67

1.86

1.3

1.7

9.05

8.54

kpa

—

(3037522) Nuclear Ab [Titer] in Serum

104

2.00

1.81

1.4

1.5

788.57

676.36

titre

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

2.11

1.80

3.3

2.5

0.51

1.25

e6/l

0.29

(42870588) Differential panel, method unspecified - Blood

278

1.69

1.79

13.2

4.8

—

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

184

1.78

8.1

2.4

—

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

182

0.45

1.71

4.3

2.9

2.41

2.46

mmol/l

—

165

(3042936) Bacteria identified in Isolate by Culture

114

1.92

1.71

2.5

1.6

—

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

364

1.62

1.68

4.7

4.2

61.42

31.11

ng/l

0.47

272

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

374

1.62

1.66

2.6

2.1

96.27

99.17

pmol/l

0.13

196

(3019977) pH of Arterial blood

108

1.92

1.63

8.0

7.6

7.39

7.41

0.20

(3003396) Base excess in Arterial blood by calculation

108

1.92

1.63

8.0

7.5

1.94

1.52

mmol/l

0.10

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

348

1.61

1.62

4.3

4.4

0.00

0.06

estimate

0.78

(40768443) Skin Pathology biopsy report

2.56

1.52

1.0

1.2

—

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

2.24

1.50

5.8

3.1

114.36

129.58

g/l

1.55

(3035933) Granulocytes/Leukocytes in Blood

3.22

1.45

9.6

2.6

66.00

60.96

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.29

1.45

5.0

2.8

0.96

1.25

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.29

1.45

4.8

2.8

0.55

0.62

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

2.30

1.41

2.3

3.4

3.93

4.56

pmol/l

—

(3025941) Bacteria identified in Stool by Culture

2.30

1.41

1.4

1.1

—

(3037756) Immunofixation for Serum or Plasma

2.70

1.38

1.2

1.3

—

(3000494) Fungus identified in Specimen by Culture

1.89

1.38

2.1

1.4

—

(3026008) Bacteria identified in Urine by Culture

280

1.55

1.29

4.2

3.2

—

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

263

1.55

1.27

5.4

4.2

0.00

0.02

estimate

0.49

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

2.38

1.20

4.8

5.2

—

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

2.13

1.18

4.8

3.2

21.59

23.91

mmol/l

—

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

2.57

1.16

1.2

1.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

259

1.52

1.16

3.5

3.7

0.00

0.04

estimate

0.74

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

2.42

1.14

1.3

1.1

—

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

2.02

1.10

1.8

1.3

—

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

511

1.43

1.05

8.3

4.7

7.39

6.65

mmol/l

0.60

475

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

2.33

1.04

1.2

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

167

1.56

1.03

7.2

6.2

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

1.83

0.97

2.2

1.7

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

2.06

0.88

1.0

1.2

—

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

2.06

0.88

1.5

1.3

—

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

456

1.36

0.83

4.9

4.3

0.00

estimate

-0.00

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.86

0.80

2.8

2.5

—

(1761868) Lipid panel - Serum or Plasma

271

0.68

0.79

2.9

3.4

—

(3048689) Calprotectin [Mass/mass] in Stool

100

1.58

0.78

2.1

2.0

266.30

115.58

ug/g

—

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

460

1.34

0.77

4.9

4.3

0.00

estimate

-0.00

101

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

192

0.63

0.77

5.8

4.8

25.02

21.59

—

104

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

152

1.47

0.76

3.4

1.8

—

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

2.13

0.75

2.0

1.2

—

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

462

1.33

0.74

4.9

4.4

0.00

estimate

-0.00

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

753

0.75

0.72

4.5

5.4

6.07

6.00

mmol/l

0.14

683

(3023420) DNA double strand Ab [Units/volume] in Serum

1.75

0.71

2.4

2.0

—

7.93

—

(3018418) pH of Serum or Plasma

273

1.36

0.70

11.6

4.0

7.39

0.00

195

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

1.89

0.69

2.0

1.2

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

1.67

0.68

1.0

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

739

0.76

0.66

3.8

5.1

1.50

1.49

mmol/l

0.05

670

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

1.76

0.64

1.6

1.7

1.25

1.09

g/l

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

1.76

0.64

1.6

0.21

0.22

g/l

—

(40758558) Short blood count panel - Blood

249

1.34

0.64

24.1

6.4

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

161

0.65

0.63

1.2

1.3

33.00

34.08

iu/ml

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.60

0.0

1.4

—

1.67

—

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

108

1.45

0.57

3.9

1.7

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

761

0.78

0.56

4.6

6.0

2.51

2.61

mmol/l

0.46

690

(3031040) Bacteria [#/volume] in Urine by Automated count

568

1.26

0.52

8.4

5.1

—

3588.25

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.43

0.43

1.4

—

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

1.54

0.42

1.6

1.1

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.41

0.0

1.7

—

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

0.00

0.40

0.0

1.9

—

7.47

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

0.39

0.0

1.3

—

0.55

—

(3022145) Colonoscopy Study observation

1.36

0.37

1.4

1.3

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

1.42

0.35

2.3

1.7

1.42

1.36

ug/l

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

183

1.25

0.35

1.1

1.2

3.16

2.19

u/ml

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

1.32

0.33

3.5

4.1

4.12

1.83

mmol/l

—

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

104

1.28

0.28

4.2

1.7

—

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

1.33

0.27

3.1

1.4

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

124

1.24

0.25

8.9

6.8

102.60

104.41

mmol/l

0.62

124

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

1.37

0.24

2.2

1.7

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.30

0.23

1.0

1.3

—

(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma

1.26

0.23

1.4

1.9

35.60

41.29

u/l

—

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

434

0.88

0.23

3.7

2.8

—

(3012516) Albumin [Mass/volume] in Urine

270

0.86

0.22

2.1

3.2

174.02

53.71

mg/l

0.57

178

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

19.66

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.3

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.21

0.0

3.0

—

0.90

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.3

—

0.88

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

1.33

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.3

—

0.87

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.2

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

1.1

—

(40761511) CBC panel - Blood by Automated count

790

0.88

0.21

40.6

14.7

—

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

1.24

0.20

2.3

1.6

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.20

0.0

1.4

—

(3009343) pH of Capillary blood

1.16

0.19

3.5

3.9

7.44

7.42

—

(40761536) Microorganisms panel - Urine sediment

1.24

0.19

5.6

3.6

—

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

110

1.21

0.18

3.0

1.7

—

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

120

1.19

0.17

1.9

1.4

—

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

140

1.17

0.16

4.1

2.7

0.61

0.84

e6/l

—

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

0.83

0.14

22.6

9.6

—

(3002256) Pathology report gross observation

113

1.17

0.14

2.3

1.3

—

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

1.17

0.10

2.4

1.6

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

1.05

0.08

2.7

4.1

1.18

1.20

mmol/l

—

(40761535) Cells panel - Urine sediment

1.03

0.08

7.9

3.5

—

(40768804) Tissue Pathology biopsy report

316

1.06

0.06

3.8

2.2

—

(3002385) Erythrocyte [DistWidth] in Red Blood Cells

646

1.05

0.06

59.9

20.8

15.51

13.82

5.57

638

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

1.11

0.04

5.4

3.4

—

(40768797) Stomach Pathology biopsy report

111

1.09

0.04

1.6

1.3

—

(3020682) Albumin/Creatinine [Ratio] in Urine

280

0.95

0.03

3.0

3.9

50.06

9.68

mg/mmol

0.53

175

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

171

1.06

0.03

1.6

1.3

2.97

2.50

g/l

0.27

(3015736) pH of Urine

352

0.99

0.00

5.3

4.0

6.50

6.29

0.37

194

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

206

1.02

0.00

4.9

4.1

—

0.29

—

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

1.01

0.00

2.9

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3016724) Homocysteine [Moles/volume] in Serum or Plasma

0.00

0.0

2.2

—

17.02

—

(3007368) IgG [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

31.80

—

(3011436) Histone Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3019897) Erythrocyte [DistWidth] in Red Blood Cells by Automated count

0.00

0.0

2.6

—

13.34

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

0.0

3.2

—

308.17

—

(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

0.0

1.0

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

0.0

1.6

—

113.60

—

(3003129) Base excess in Capillary blood by calculation

0.00

0.0

1.5

—

-0.10

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.2

—

(4195642) Thrombophilia screening test

0.00

0.0

1.2

—

(3012565) Volume of 24 hour Urine

0.00

0.0

1.6

—

2300.00

—

(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.3

—

(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection

0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

(36660697) Celiac disease serology panel - Serum

0.86

-0.00

1.3

1.2

—

(3000492) Spirometry study

0.97

-0.00

1.7

1.5

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

2.6

—

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

0.00

-0.00

0.0

1.3

—

9.76

—

(3022621) pH of Urine by Test strip

0.88

-0.00

1.4

3.1

6.21

6.20

—

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

0.00

-0.00

0.0

1.3

—

(3037534) Parathyrin related protein [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

75.79

—

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

0.00

-0.00

0.0

1.7

—

39.10

—

(3019060) Gas panel - Arterial blood

0.86

-0.00

12.0

3.8

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.1

—

(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.7

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(4268621) Lupus anticoagulant assay

0.00

-0.00

0.0

1.6

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.88

-0.00

1.3

—

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

0.00

-0.00

0.0

1.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_SIDEROANASCND and mortality.

Females

Parameter	HR [95% CI]	p-value
D3_SIDEROANASCND	3.542 [2.71, 4.64]	< 0.001
Birth year	0.994 [0.99, 1.0]	0.186

During the follow-up period (1.1.1998 — 31.12.2019), 412 out of 577 females with D3_SIDEROANASCND died.

Males

Parameter	HR [95% CI]	p-value
D3_SIDEROANASCND	3.319 [2.26, 4.86]	< 0.001
Birth year	0.983 [0.97, 0.99]	< 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 305 out of 410 males with D3_SIDEROANASCND died.

Mortality risk

Mortality risk for people of age

years, who have D3_SIDEROANASCND.

N-year risk	Females	Males
1	0.2%	0.499%
5	2.037%	3.407%
10	5.222%	7.914%
15	9.388%	15.3%
20	16.198%	24.868%

Relationships between endpoints

↥

Index endpoint: D3_SIDEROANASCND – Secondary sideroblastic anaemia

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

Secondary sideroblastic anaemia

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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints