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

See these related core endpoints for full statistics:

Immunodeficiency with short-limbed stature

Endpoint Browser

D3_IMMUDEFSHORTLIMB

No definition available.

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 — D82.2 Cause of death: ICD-10 — D82.2 2 out of 7 registries used, show all original rules.	17
4. Check minimum number of events None	17
5. Include endpoints None	17
6. Filter based on genotype QC (FinnGen only)	17

Control definitions (FinnGen only)

Control exclude: D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D82
Name in latin: Deficientia immunalis cum brevitate membrorum

NAME	D3_IMMUDEFSHORTLIMB
CONTROL_EXCLUDE	D3_IMMUNEMECHANISM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D822
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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	D822
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Immunodeficiency with short-limbed stature 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	95	52	42
Only index persons	86	46	40
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	48.93	48.70	48.58
Only index persons	46.09	46.73	45.37

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	17	11	6
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	48.58	46.53	52.33

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

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

16.71

5.92

6.9

3.4

u/l

163.2

276.5

—

(3005719) IgG [Mass/volume] in Serum or Plasma

15.39

4.91

10.9

1.7

g/l

11.8

9.2

—

(36304419) Bacteria [Presence] in Urine

10.17

4.71

9.1

2.6

—

(3023368) Bacteria identified in Blood by Culture

9.96

4.62

13.6

5.2

—

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

11.34

4.58

5.1

1.4

—

(3042936) Bacteria identified in Isolate by Culture

10.58

4.40

3.3

1.6

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

+∞

4.33

25.8

8.5

e9/l

5.6

3.9

1.70

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

11.40

4.26

7.6

3.8

—

(3003458) Phosphate [Moles/volume] in Serum or Plasma

9.31

4.08

16.7

3.0

mmol/l

1.1

1.0

—

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

14.43

3.82

2.0

1.2

—

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

8.28

3.79

2.7

1.6

—

(3000492) Spirometry study

8.28

3.26

3.6

1.3

—

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

9.52

3.16

1.8

1.2

—

(40758558) Short blood count panel - Blood

5.89

3.10

21.6

5.7

—

(4035726)

8.54

2.98

1.3

1.1

—

(3000991) Gas panel - Venous blood

8.54

2.98

10.2

3.9

—

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

7.73

2.81

4.8

1.4

—

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

6.47

2.52

4.8

1.3

—

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

5.48

2.47

2.6

1.5

—

(3044640) Blood type and Crossmatch panel - Blood

4.60

2.46

3.2

1.6

—

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

4.46

2.23

2.5

2.0

mg/l

4.9

3.7

—

(3033658) Prothrombin time (PT) actual/Normal

4.46

2.23

9.4

2.7

97.1

91.7

—

(3026008) Bacteria identified in Urine by Culture

4.15

2.17

6.0

2.8

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

4.84

2.05

2.7

1.9

31.5

31.4

—

(3009508) Creatinine [Moles/volume] in Urine

4.05

2.05

6.8

3.4

mmol/l

5.6

7.6

—

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

3.95

1.99

2.9

2.1

—

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

4.21

1.99

3.4

1.5

—

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

4.58

1.75

6.4

2.2

kpa

5.7

5.9

—

(3012544) pH of Venous blood

4.58

1.75

6.4

2.2

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

3.51

1.73

3.7

2.4

u/l

48.9

50.6

—

(40768797) Stomach Pathology biopsy report

3.83

1.68

1.2

1.4

—

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

3.52

1.68

1.6

1.5

nmol/l

18.3

19.0

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

131

+∞

1.59

8.1

5.0

mu/l

1.7

2.0

0.55

118

(40768804) Tissue Pathology biopsy report

3.34

1.48

1.7

1.9

—

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

2.94

1.39

7.2

3.3

—

(3000494) Fungus identified in Specimen by Culture

3.49

1.39

2.8

1.3

—

(3015736) pH of Urine

2.67

1.19

6.8

2.9

—

(3013512) EKG study

2.61

1.08

4.5

3.0

—

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

2.53

0.99

1.7

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

145

+∞

0.87

63.2

11.3

mg/l

30.0

16.9

1.01

104

(3019550) Sodium [Moles/volume] in Serum or Plasma

147

+∞

0.86

55.9

11.4

mmol/l

138.4

139.9

1.56

141

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

2.52

0.83

3.0

3.4

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

149

+∞

0.65

55.8

12.9

umol/l

106.9

71.3

0.71

149

(3023103) Potassium [Moles/volume] in Serum or Plasma

148

+∞

0.64

58.0

11.2

mmol/l

4.0

0.00

143

(21494755) Public health laboratory ask at order entry panel

0.00

0.43

0.0

1.3

—

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

1.77

0.43

2.7

1.4

—

(40761511) CBC panel - Blood by Automated count

152

+∞

0.42

41.1

10.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.66

0.42

21.0

5.4

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.67

0.39

13.1

3.1

—

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

101

1.64

0.35

4.3

3.2

—

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

0.00

0.22

0.0

1.7

—

(1002224) Polysomnography panel

0.00

0.22

0.0

1.0

—

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

1.43

0.22

12.6

3.1

—

(1761868) Lipid panel - Serum or Plasma

1.40

0.22

4.4

2.9

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

1.19

0.11

3.6

1.4

mg/l

0.9

1.0

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

1.0

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.0

1.2

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.0

1.0

—

1.1

—

(4034850)

0.00

0.0

5.8

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.8

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3022621) pH of Urine by Test strip

0.00

0.0

1.7

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.2

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_IMMUDEFSHORTLIMB and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_IMMUDEFSHORTLIMB.

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_IMMUDEFSHORTLIMB – Immunodeficiency with short-limbed stature

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 with short-limbed stature

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