Other and unspecified hereditary haemolytic anaemias

D3_HEREDHAEMOLYTICANAEMIAOTHERNAS

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 — D58.8, D58.9 Hospital discharge: ICD-9 — 282[8-9] Hospital discharge: ICD-8 — 28238\|2829 Cause of death: ICD-10 — D58.8, D58.9 Cause of death: ICD-9 — 282[8-9] Cause of death: ICD-8 — 28238\|2829 2 out of 7 registries used, show all original rules.	45
4. Check minimum number of events None	45
5. Include endpoints None	45
6. Filter based on genotype QC (FinnGen only)	45

Control definitions (FinnGen only)

Control exclude: D3_HAEMOLYTICANAEMIA

Extra metadata

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

NAME	D3_HEREDHAEMOLYTICANAEMIAOTHERNAS
CONTROL_EXCLUDE	D3_HAEMOLYTICANAEMIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D58[8-9]
HD_ICD_9	282[8-9]
HD_ICD_8	28238\|2829
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D58[8-9]
COD_ICD_9	282[8-9]
COD_ICD_8	28238\|2829
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 and unspecified hereditary haemolytic anaemias 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	479	252	219
Only index persons	345	180	165
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	33.78	40.10	25.76
Only index persons	28.09	32.83	22.91

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	45	34	11
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	30.55	32.14	25.65

-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

No data

-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

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

17.88

13.97

3.6

1.5

—

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

11.01

13.49

21.1

3.1

243.5

236.7

u/l

0.09

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

8.16

10.13

8.8

4.2

7.2

4.6

umol/l

1.44

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

6.75

6.41

3.6

4.7

0.2

g/l

0.12

(3021960) Folate [Moles/volume] in Serum or Plasma

3.44

3.71

2.2

1.6

21.6

24.0

nmol/l

0.29

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

9.16

2.82

8.8

1.0

53.4

6.1

u/l

—

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

117

2.72

2.69

2.4

2.0

84.4

103.2

pmol/l

1.34

(3018677) aPTT in Platelet poor plasma by Coagulation assay

3.12

2.51

5.0

3.4

32.3

30.1

0.74

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

137

2.61

2.51

8.6

4.7

36.6

36.5

g/l

0.05

131

(3033658) Prothrombin time (PT) actual/Normal

2.67

2.44

12.4

4.2

79.1

91.6

0.81

(3024354) Oxygen [Partial pressure] in Venous blood

3.29

2.38

3.9

5.1

4.7

5.1

kpa

—

(40758558) Short blood count panel - Blood

101

2.53

2.25

13.7

7.7

—

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

3.66

2.22

4.6

6.8

10.6

7.3

mmol/l

—

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

3.94

2.15

7.1

5.2

86.4

101.5

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

5.47

2.13

1.0

1.3

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

5.47

2.13

1.0

1.3

—

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

3.01

2.08

4.3

5.0

6.1

5.7

kpa

—

(3000991) Gas panel - Venous blood

3.15

2.07

7.4

10.5

—

(42870588) Differential panel, method unspecified - Blood

121

2.38

2.06

16.1

5.0

—

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

4.96

1.99

2.6

1.1

—

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

4.96

1.99

1.0

1.3

—

(3012544) pH of Venous blood

2.93

1.99

4.3

4.9

—

(3028626) Oxygen [Partial pressure] in Capillary blood

3.90

1.91

6.7

5.6

8.7

9.4

kpa

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

286

2.65

1.88

16.1

5.9

87.8

77.4

u/l

0.62

263

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

3.02

1.83

8.8

8.5

24.9

25.7

mmol/l

—

(3004588) Protein electrophoresis panel - Serum or Plasma

4.18

1.76

1.6

1.4

—

(3044889) 12 lead EKG panel

238

2.19

1.54

3.8

3.3

—

(3022313) Gas panel - Capillary blood

2.98

1.49

6.2

5.9

—

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

2.37

1.47

2.3

3.6

3.0

3.4

e6/l

—

(3018418) pH of Serum or Plasma

102

2.07

1.42

5.2

3.4

—

7.4

—

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

0.00

1.42

0.0

3.1

—

19.4

—

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

129

1.99

1.37

4.4

2.9

27.0

28.4

u/l

0.19

121

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

2.56

1.35

3.3

2.2

22.8

28.6

u/l

—

(3032080) INR in Blood by Coagulation assay

121

1.99

1.35

13.6

6.3

1.4

1.2

inr

—

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

2.34

1.26

2.1

1.5

—

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

2.83

1.25

5.2

6.5

25.4

24.7

mmol/l

—

(3022145) Colonoscopy Study observation

2.27

1.23

1.5

1.3

—

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

116

1.92

1.21

4.4

3.2

—

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

142

0.47

1.21

6.8

3.5

—

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

2.21

1.19

2.1

1.3

—

(3042936) Bacteria identified in Isolate by Culture

2.19

1.12

2.0

1.6

—

(3030467) Casts [#/volume] in Urine by Automated count

102

1.88

1.10

2.4

3.2

0.1

e6/l

—

(3002582) Erythrocytes [#/volume] in Urine

111

1.85

1.08

4.4

3.2

11.7

76.6

e6/l

0.73

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

0.00

0.99

0.0

2.5

—

0.7

—

(3022217) INR in Platelet poor plasma by Coagulation assay

2.15

0.91

35.7

15.3

—

1.2

—

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

1.85

0.86

1.1

1.4

—

(3023368) Bacteria identified in Blood by Culture

1.77

0.83

12.6

3.5

—

(3008898) HLA-B27 [Presence]

0.00

0.81

0.0

1.1

—

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

1.79

0.80

2.0

1.5

—

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

356

0.58

0.79

4.6

4.0

1.3

1.5

mmol/l

3.79

336

(36304419) Bacteria [Presence] in Urine

103

1.68

0.78

2.5

3.1

—

(3018095) Leukocytes [#/volume] in Urine

130

1.64

0.78

5.2

3.9

18.6

97.4

e6/l

1.13

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

187

1.61

0.76

8.9

3.5

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.89

0.75

1.4

—

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

2.12

0.75

1.2

1.5

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

2.03

0.73

1.4

1.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

100

0.54

0.73

7.5

3.2

—

(3002256) Pathology report gross observation

1.79

0.72

1.3

1.2

—

(3025941) Bacteria identified in Stool by Culture

1.96

0.71

1.2

—

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

361

0.61

0.67

5.5

4.4

2.5

2.9

mmol/l

1.17

342

(40768797) Stomach Pathology biopsy report

1.73

0.66

1.6

1.3

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

1.81

0.66

1.4

1.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

257

0.66

0.63

5.7

4.2

—

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

0.55

0.60

2.0

1.5

—

(40768804) Tissue Pathology biopsy report

147

1.51

0.59

2.5

1.9

—

(1761868) Lipid panel - Serum or Plasma

150

0.65

0.53

4.4

2.8

—

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

1.50

0.46

12.2

2.0

—

(3048689) Calprotectin [Mass/mass] in Stool

1.43

0.44

6.4

1.5

118.6

107.2

ug/g

—

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

1.63

0.44

4.0

2.8

—

(3000492) Spirometry study

1.63

0.44

1.2

1.3

—

(3015736) pH of Urine

145

0.68

0.44

5.8

3.4

—

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

1.45

0.42

1.3

1.5

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.42

0.0

1.9

—

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

0.00

0.42

0.0

2.1

—

1.5

—

(1002224) Polysomnography panel

0.00

0.42

0.0

1.0

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

359

0.70

0.39

4.7

4.1

4.2

4.8

mmol/l

2.67

339

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

0.63

0.37

3.8

3.5

—

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

131

1.34

0.33

6.8

3.1

56.1

22.4

ng/l

—

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

261

1.31

0.30

3.9

3.1

40.8

38.6

u/l

0.13

254

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

297

0.77

0.28

4.2

3.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.34

0.28

13.7

4.6

—

(3020682) Albumin/Creatinine [Ratio] in Urine

1.23

0.27

6.7

3.9

4.0

5.3

mg/mmol

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

2.0

—

(4306422)

0.00

0.21

0.0

1.1

—

(4268621)

0.00

0.21

0.0

2.3

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.4

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.3

—

124.9

—

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

0.00

0.21

0.0

3.1

—

17.2

—

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

0.00

0.21

0.0

1.1

—

(40768443) Skin Pathology biopsy report

0.00

0.21

0.0

1.2

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.20

0.0

2.1

—

41.6

—

(3044640) Blood type and Crossmatch panel - Blood

120

1.24

0.19

11.5

1.9

—

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

0.74

0.18

1.2

1.7

—

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

115

1.18

0.12

1.8

1.6

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.80

0.09

1.0

1.3

—

(3019150) Specific gravity of Urine by Refractometry

0.87

0.08

7.3

3.3

—

1.0

—

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

1.04

0.07

1.6

1.3

—

(3026008) Bacteria identified in Urine by Culture

103

0.96

0.00

2.3

3.1

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

97.8

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

6.8

—

0.6

—

(4027681)

0.00

0.0

1.2

—

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

0.00

0.0

2.0

—

4.0

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.3

—

(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

7.0

—

102.8

—

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

0.00

0.0

1.0

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.1

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

1.2

—

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

0.00

0.0

2.0

—

108.8

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

1.6

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.4

—

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

0.97

0.00

1.6

1.8

—

(3013512) EKG study

0.90

0.00

1.5

3.2

—

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

0.00

0.0

4.0

—

5.1

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

22.2

—

824.4

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

4.1

—

178.3

—

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

0.00

0.0

1.2

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.2

—

188.2

—

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

0.00

0.0

1.6

—

133.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.1

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.4

—

24.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.1

—

(3047826) Mullerian inhibiting substance [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

1.0

—

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

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_HEREDHAEMOLYTICANAEMIAOTHERNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HEREDHAEMOLYTICANAEMIAOTHERNAS.

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

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Index endpoint: D3_HEREDHAEMOLYTICANAEMIAOTHERNAS – Other and unspecified hereditary haemolytic anaemias

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 and unspecified hereditary haemolytic anaemias

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