Immunodeficiency associated with other major defects

D3_IMMUDEFWITHMAJORDEF

No definition available.

Endpoint definition

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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 — D82 Cause of death: ICD-10 — D82 2 out of 7 registries used, show all original rules.	-
4. Check minimum number of events None	-
5. Include endpoints D3_WISKOTTALDRICH D3_DIGEORGE D3_IMMUDEFSHORTLIMB D3_IMMUDEFPOSTEBV D3_HYPERIGESDR D3_IMMUDEFMAJORDEFNAS	94
6. Filter based on genotype QC (FinnGen only)	94

Control definitions (FinnGen only)

Control exclude: D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D80-D89
Name in latin: Deficientia immunalis cum aliis defectibus majoribus

NAME	D3_IMMUDEFWITHMAJORDEF
CONTROL_EXCLUDE	D3_IMMUNEMECHANISM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	D3_WISKOTTALDRICH\|D3_DIGEORGE\|D3_IMMUDEFSHORTLIMB\|D3_IMMUDEFPOSTEBV\|D3_HYPERIGESDR\|D3_IMMUDEFMAJORDEFNAS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D82
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D82
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

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List of similar endpoints to Immunodeficiency associated with other major defects based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	728	368	358
Only index persons	577	295	282
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	40.88	42.53	39.01
Only index persons	41.82	43.29	40.28

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	94	51	43
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	47.76	46.53	49.22

-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)

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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
84: Matched controls
839

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D82.4

ICD-10 Finland

Hyperimmunoglobulin E [IgE] syndrome

+∞

19.5

D82.1

ICD-10 Finland

Di George syndrome

+∞

19.5

D82.2

ICD-10 Finland

Immunodeficiency with short-limbed stature

+∞

18.4

D82.8

ICD-10 Finland

Immunodeficiency associated with other specified major defects

+∞

16.1

GD1AA

NOMESCO Finland

Thorax X-ray examination

5.4

12.0

211

Q87.06

ICD-10 Finland

Velocardiofacial syndrome

+∞

11.7

D80.1

ICD-10 Finland

Nonfamilial hypogammaglobulinaemia

+∞

10.6

6BA02

NOMESCO Finland

+∞

10.6

NK6QA

NOMESCO Finland

Measurement of bone density from tow or more locations with X-ray

10.8

10.0

D82.9

ICD-10 Finland

Immunodeficiency associated with major defect, unspecified

+∞

9.5

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

5.9

9.3

H02AB06

ATC

prednisolone; systemic

4.2

8.9

227

DM1QA

NOMESCO Finland

Paranasal sinuses X-ray examination in one projection

9.6

8.9

J01MA12

ATC

levofloxacin; systemic

5.4

8.6

ZXD05

NOMESCO Finland

Urgent procedure

4.3

8.3

130

L04AA01

ATC

[U] ciclosporin; systemic

25.0

8.3

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

8.6

8.0

J45.9

ICD-10 Finland

Asthma, unspecified

4.9

8.0

ZX120

NOMESCO Finland

Intravenous

6.4

7.6

XW000

NOMESCO Finland

Bone marrow biopsy

17.8

7.5

120

Kela drug reimbursment

Hypogammaglobulinaemia

+∞

7.4

D82.0

ICD-10 Finland

Wiskott-Aldrich syndrome

+∞

7.4

DM1AA

NOMESCO Finland

Paranasal sinuses X-ray examination without contrast

33.2

7.3

WX408

NOMESCO Finland

General anesthesy, balanced

3.9

7.2

135

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

3.9

7.1

129

203

Kela drug reimbursment

Chronic asthma and similar chronic obstructive pulmonary diseases

4.3

7.0

TPH04

NOMESCO Finland

Cathetrisation of vein

4.1

6.9

100

R50.9

ICD-10 Finland

Fever, unspecified

4.6

6.8

H04.10

ICD-10 Finland

Dry eye syndrome

6.4

6.6

GD1DD

NOMESCO Finland

High resolution CT examination of lungs

8.2

6.5

Z31.5

ICD-10 Finland

Genetic counselling

7.8

6.4

A07AA02

ATC

nystatin; oral

7.8

6.4

J06BA01

ATC

immunoglobulins, normal human, for extravascular adm.; systemic

+∞

6.3

J01EE01

ATC

sulfamethoxazole and trimethoprim; systemic

9.8

6.3

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.4

6.2

J01FF01

ATC

clindamycin; systemic

3.5

6.1

131

R03AC02

ATC

salbutamol; inhalant

3.2

6.1

333

Mortality – FinRegistry

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Association

Association between endpoint D3_IMMUDEFWITHMAJORDEF and mortality.

Females

Parameter	HR [95% CI]	p-value
D3_IMMUDEFWITHMAJORDEF	2.935 [1.94, 4.44]	< 0.001
Birth year	0.995 [0.99, 1.0]	0.289

During the follow-up period (1.1.1998 — 31.12.2019), 66 out of 294 females with D3_IMMUDEFWITHMAJORDEF died.

Males

Parameter	HR [95% CI]	p-value
D3_IMMUDEFWITHMAJORDEF	2.666 [1.66, 4.28]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.002

During the follow-up period (1.1.1998 — 31.12.2019), 70 out of 293 males with D3_IMMUDEFWITHMAJORDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_IMMUDEFWITHMAJORDEF.

N-year risk	Females	Males
1	0.285%	0.428%
5	1.877%	2.813%
10	4.685%	6.763%
15	8.607%	13.305%
20	14.179%	21.391%

Relationships between endpoints

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Index endpoint: D3_IMMUDEFWITHMAJORDEF – Immunodeficiency associated with other major 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

Loading data

Immunodeficiency associated with other major defects

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)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints