Qualitative platelet defects

D3_QUALIPATELETDEF

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 D69.1
  • Hospital discharge: ICD-9 2871
  • Hospital discharge: ICD-8 28730
  • Cause of death: ICD-10 D69.1
  • Cause of death: ICD-9 2871
  • Cause of death: ICD-8 28730

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

134

4. Check minimum number of events

None

134

5. Include endpoints

None

134

6. Filter based on genotype QC (FinnGen only)

134

Control definitions (FinnGen only)

Control exclude
D3_COAGDEF_PURPUR_HAEMORRHAGIC

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D69
Name in latin
Defectus qualitativi thrombocytorum

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 867 530 331
Only index persons 724 456 268
Unadjusted period prevalence (%)
Whole population 0.01 0.02 0.01
Only index persons 0.01 0.02 0.01
Median age at first event (years)
Whole population 49.02 48.30 49.74
Only index persons 46.38 45.50 47.87

-FinnGen-

Key figures

All Female Male
Number of individuals 134 89 45
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 48.98 43.31 60.21

-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 (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.

Matched cohort

Matched cases
128
Matched controls
1281
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D69.1
ICD-10 Finland
Qualitative platelet defects
+∞
169.1
122
*
D69.6
ICD-10 Finland
Thrombocytopenia, unspecified
247.6
36.9
36
*
D69.3
ICD-10 Finland
Idiopathic thrombocytopenic purpura
+∞
35.0
32
*
B02AA02
ATC
tranexamic acid; systemic
7.6
19.7
53
109
D68.9
ICD-10 Finland
Coagulation defect, unspecified
+∞
11.6
11
*
129
Kela drug reimbursment
Idiopathic thrombocytopaenia or granulocytopenia
+∞
11.6
11
*
D69.9
ICD-10 Finland
Haemorrhagic condition, unspecified
+∞
10.6
10
*
D75.2
ICD-10 Finland
Essential thrombocytosis
59.6
9.8
11
*
XW000
NOMESCO Finland
Bone marrow biopsy
10.8
9.6
18
19
D68.0
ICD-10 Finland
Von Willebrand disease
+∞
9.5
9
*
D61.9
ICD-10 Finland
Aplastic anaemia, unspecified
+∞
8.4
8
*
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
8.3
8.0
17
23
D47.3
ICD-10 Finland
Essential (haemorrhagic) thrombocythaemia
48.0
7.8
9
*
H02AB06
ATC
prednisolone; systemic
2.8
7.6
73
408
D69.4
ICD-10 Finland
Other primary thrombocytopenia
+∞
7.4
7
*
126
Kela drug reimbursment
Chronic coagulation defects
+∞
7.4
7
*
WW500
NOMESCO Finland
Blood transfusion
6.8
7.1
17
28
D45
ICD-10 Finland
Polycythaemia vera
42.4
6.8
8
*
O99.1
ICD-10 Finland
Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium
73.4
6.5
7
*
D69.0
ICD-10 Finland
Allergic purpura
+∞
6.3
6
*
D68.8
ICD-10 Finland
Other specified coagulation defects
+∞
6.3
6
*
B02BX05
ATC
eltrombopag; oral
+∞
6.3
6
*
L04AD01
ATC
ciclosporin; systemic
13.4
6.2
10
8
L04AX01
ATC
azathioprine; systemic
7.9
6.1
13
18

Mortality – FinRegistry

Association

Association between endpoint D3_QUALIPATELETDEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_QUALIPATELETDEF 2.075 [1.4, 3.07] < 0.001
Birth year 0.995 [0.99, 1.0] 0.246

During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 401 females with D3_QUALIPATELETDEF died.

Males

Parameter HR [95% CI] p-value
D3_QUALIPATELETDEF 2.304 [1.61, 3.31] < 0.001
Birth year 0.988 [0.98, 1.0] 0.01

During the follow-up period (1.1.1998 — 31.12.2019), 98 out of 278 males with D3_QUALIPATELETDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_QUALIPATELETDEF.

N-year risk Females Males
1 0.184% 0.492%
5 1.265% 2.769%
10 3.326% 6.831%
15 6.02% 12.131%
20 9.835% 20.27%

Relationships between endpoints

Index endpoint: D3_QUALIPATELETDEF – Qualitative platelet defects

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
loading spinner Loading data