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This is a non-core endpoint: only basic statistics are computed.

Functional disorders of polymorphonuclear neutrophils

D3_FUNCPOLYMORPHONUCNEUTRO

obsolete_chronic granulomatous disease: ['A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation.']

Suggest a new description

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 D71
  • Hospital discharge: ICD-9 2881
  • Cause of death: ICD-10 D71
  • Cause of death: ICD-9 2881

2 out of 7 registries used, show all original rules.

30

4. Check minimum number of events

None

30

5. Include endpoints

None

30

6. Filter based on genotype QC (FinnGen only)

30

Control definitions (FinnGen only)

Control exclude
D3_BLOODOTHER

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D70-D77
Name in latin
Dysfunctiones granulocytorum neutrophilorum segmentonuclearium

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 189 97 90
Only index persons 142 76 66
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population 43.39 50.56 34.71
Only index persons 40.96 48.51 32.26

-FinnGen-

Key figures

All Female Male
Number of individuals 30 19 11
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 45.09 47.87 40.30

-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

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(42870588) Differential panel, method unspecified - Blood
20
76
5.89
5.25
20.7
6.0
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
11
30
5.21
4.07
3.8
2.2
s
34.8
29.4
0.43
11
30
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
6
6
12.05
3.67
3.0
2.8
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
9
19
6.28
3.58
30.2
7.5
u/l
324.1
226.5
—
9
19
(4035726)
9
20
5.94
3.44
1.6
1.2
—
—
—
0
0
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
6
8
9.00
3.21
5.3
4.6
g/l
3.8
3.5
—
6
8
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
5
5
11.61
3.09
1.2
1.0
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
21
124
3.30
2.47
15.9
5.7
e9/l
0.1
0.0
0.62
21
112
(3037756) Immunofixation for Serum or Plasma
5
8
7.21
2.47
1.0
1.5
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
21
125
3.26
2.45
15.8
5.7
e9/l
0.5
0.6
0.42
21
112
(40758558) Short blood count panel - Blood
13
58
3.19
2.31
34.5
10.3
—
—
—
0
0
(3019198) Lymphocytes [#/volume] in Blood
21
128
3.12
2.20
15.9
6.1
e9/l
1.8
1.9
0.09
21
115
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
17
94
2.87
2.03
1.9
2.1
pmol/l
77.0
91.7
0.82
12
50
(3048929) Epstein Barr virus Ab [Presence] in Serum
5
11
5.21
2.02
1.4
1.4
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
9
37
3.03
1.66
2.1
3.5
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
16
94
2.50
1.59
2.4
1.8
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
12
178
0.46
1.19
3.4
3.5
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
7
33
2.45
1.15
2.3
1.3
%
1.4
1.3
—
7
28
(3000494) Fungus identified in Specimen by Culture
7
33
2.45
1.15
2.6
2.1
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
5
21
2.65
1.13
1.2
3.2
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
10
55
2.23
1.08
7.5
3.3
umol/l
317.5
6928.7
—
10
49
(3019832) Treponema pallidum Ab [Presence] in Serum
6
27
2.52
1.00
1.7
1.7
—
—
—
0
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
11
67
2.01
0.91
7.1
3.6
ng/l
608.3
1153.6
1.12
11
59
(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma
6
32
2.09
0.87
13.7
3.5
umol/l
5.7
4.6
—
6
27
(3033658) Prothrombin time (PT) actual/Normal
10
60
2.00
0.85
6.8
4.1
%
68.1
87.7
—
10
60
(3044640) Blood type and Crossmatch panel - Blood
13
87
1.87
0.81
13.3
2.5
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
11
70
1.90
0.79
9.6
4.2
—
—
—
0
0
(3002256) Pathology report gross observation
5
24
2.29
0.79
1.2
1.1
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
10
65
1.81
0.66
12.7
2.5
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
0
20
0.00
0.63
0.0
3.8
—
133.6
—
0
20
(4010399)
0
20
0.00
0.63
0.0
1.2
—
—
—
0
0
(3000991) Gas panel - Venous blood
0
19
0.00
0.63
0.0
11.2
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
16
123
1.64
0.57
16.1
5.3
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
14
106
1.60
0.52
22.9
9.1
e9/l
0.0
0.0
0.38
14
87
(46235355) HIV 1 and 2 tests - Meaningful Use set
8
57
1.55
0.47
2.0
1.8
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
11
80
1.59
0.47
2.9
1.6
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
5
30
1.80
0.46
2.0
2.0
—
—
—
0
0
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
0
15
0.00
0.42
0.0
2.5
—
0.8
—
0
15
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
0
16
0.00
0.42
0.0
1.4
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
0
16
0.00
0.42
0.0
3.4
—
49.0
—
0
16
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
0
17
0.00
0.42
0.0
1.5
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
0
17
0.00
0.42
0.0
2.4
—
2.0
—
0
17
(1761868) Lipid panel - Serum or Plasma
6
88
0.60
0.40
2.2
2.7
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
6
42
1.53
0.38
2.3
1.4
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
7
53
1.42
0.34
2.4
1.5
—
—
—
0
0
(3013512) EKG study
8
60
1.45
0.32
7.5
4.9
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
8
64
1.34
0.31
4.4
4.6
—
—
—
0
0
(3009445) Proteinase 3 Ab [Units/volume] in Serum
0
11
0.00
0.22
0.0
1.0
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
10
0.00
0.22
0.0
3.2
—
6.3
—
0
10
(3008037) Lactate [Moles/volume] in Venous blood
0
10
0.00
0.22
0.0
3.2
—
1.2
—
0
10
(40768443) Skin Pathology biopsy report
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
12
0.00
0.21
0.0
3.3
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
0
13
0.00
0.21
0.0
51.5
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
3.6
—
24.9
—
0
14
(3018418) pH of Serum or Plasma
10
82
1.33
0.20
13.4
4.0
—
7.4
—
0
13
(3041096) Erythrocytes [Presence] in Urine by Automated
9
78
1.22
0.18
1.8
3.1
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
11
95
1.25
0.14
4.7
2.7
—
—
—
0
0
(3026782) Osmolality of Urine
6
53
1.16
0.10
3.3
2.6
mosm/kgh2o
537.2
504.4
—
6
46
(3009508) Creatinine [Moles/volume] in Urine
6
54
1.14
0.09
3.2
2.7
mmol/l
5.4
7.3
—
6
42
(3011397) Hemoglobin [Presence] in Urine by Test strip
5
60
0.80
0.09
1.6
2.7
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
5
62
0.77
0.09
3.2
2.1
e6/l
2.6
4.6
—
5
57
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
7
62
1.17
0.09
1.9
1.6
mmol/l
2.5
1.3
—
7
52
(3002582) Erythrocytes [#/volume] in Urine
9
83
1.12
0.08
5.1
2.7
e6/l
10.3
14.7
—
9
63
(3026008) Bacteria identified in Urine by Culture
9
86
1.07
0.08
2.3
3.0
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
19
179
1.17
0.07
4.3
3.9
—
—
—
0
0
(3015736) pH of Urine
10
108
0.89
0.03
1.8
2.8
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
10
104
0.94
0.00
1.8
3.2
—
—
—
0
0
(3044889) 12 lead EKG panel
17
169
1.01
0.00
4.5
3.5
—
—
—
0
0
(3031040) Bacteria [#/volume] in Urine by Automated count
17
169
1.01
0.00
6.2
4.3
—
40.6
—
0
5
(3035285) Chloride [Moles/volume] in Venous blood
0
7
0.00
0.00
0.0
3.4
—
108.0
—
0
7
(3010421) pH of Blood
0
8
0.00
0.00
0.0
2.5
—
7.4
—
0
8
(3002523) Influenza virus A Ag [Presence] in Specimen
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
23
231
0.98
0.00
42.4
18.1
%
40.8
40.1
0.10
16
176
(3003181) Sodium [Moles/volume] in Urine
0
5
0.00
0.00
0.0
1.2
—
51.0
—
0
5
(3027315) Oxygen [Partial pressure] in Blood
0
8
0.00
0.00
0.0
2.4
—
8.7
—
0
8
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
743.4
—
0
5
(3024891) Influenza virus A+B Ag [Presence] in Specimen
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3024928) Oxygen saturation in Venous blood
0
5
0.00
0.00
0.0
6.4
—
—
—
0
0
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
5.4
—
14.1
—
0
5
(3037121) Protein [Mass/volume] in Urine
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
23
227
1.06
0.00
32.2
13.5
ml/min/173m2
92.4
84.0
0.85
23
184
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma
8
85
0.92
0.00
3.3
2.0
u/l
2513.1
154.3
—
8
80
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(4034850)
0
7
0.00
0.00
0.0
30.6
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
8
80
1.00
0.00
4.9
2.4
e6/l
0.4
0.3
—
8
60
(3007628) Bicarbonate [Moles/volume] standard in Venous blood
0
9
0.00
0.00
0.0
1.6
—
24.9
—
0
9
(36304419) Bacteria [Presence] in Urine
8
78
1.03
0.00
4.9
2.3
—
—
—
0
0
(3023103) Potassium [Moles/volume] in Serum or Plasma
25
249
1.02
0.00
37.8
18.7
mmol/l
3.9
4.0
0.08
25
244
(3008898) HLA-B27 [Presence]
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(1616796) Gas panel - Central venous blood
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
3.0
—
4.2
—
0
6
(3041354) Potassium [Moles/volume] in Venous blood
0
7
0.00
0.00
0.0
3.4
—
3.9
—
0
7
(3003740) Influenza virus B Ag [Presence] in Specimen
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3013290) Carbon dioxide [Partial pressure] in Blood
0
8
0.00
0.00
0.0
2.4
—
4.9
—
0
8
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
4.7
—
29.0
—
0
6
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(21494890) Protein electrophoresis panel - 24 hour Urine
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
7
0.00
0.00
0.0
3.4
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_FUNCPOLYMORPHONUCNEUTRO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_FUNCPOLYMORPHONUCNEUTRO.

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: D3_FUNCPOLYMORPHONUCNEUTRO – Functional disorders of polymorphonuclear neutrophils

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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