Phantom limb syndrome with pain

PHANTOMLIMB

peripheral nervous system disease: A disease involving the peripheral nervous system.

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 — G54.6 Hospital discharge: ICD-9 — 3536 Cause of death: ICD-10 — G54.6 Cause of death: ICD-9 — 3536 2 out of 7 registries used, show all original rules.	92
4. Check minimum number of events None	92
5. Include endpoints None	92
6. Filter based on genotype QC (FinnGen only)	92

Control definitions (FinnGen only)

Control exclude: PAIN

Extra metadata

First used in FinnGen datafreeze: DF3
Parent code in ICD-10: G54
Name in latin: Syndroma phantomatis membri dolorosum

NAME	PHANTOMLIMB
CONTROL_EXCLUDE	PAIN
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G546
HD_ICD_9	3536
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	G546
COD_ICD_9	3536
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 Phantom limb syndrome with pain 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	707	296	401
Only index persons	573	236	337
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	55.87	56.33	55.27
Only index persons	53.44	53.66	53.29

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	92	41	51
Unadjusted period prevalence (%)	0.02	0.01	0.02
Median age at first event (years)	55.32	50.35	59.31

-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
81: Matched controls
810

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G54.6

ICD-10 Finland

Phantom limb syndrome with pain

+∞

111.0

N03AX16

ATC

pregabalin; oral

26.8

35.3

N03AX12

ATC

gabapentin; oral

24.3

26.9

N02AA05

ATC

oxycodone; systemic

16.1

21.3

NGQ20

NOMESCO Finland

Amputation of lower leg

92.8

19.8

N02AX02

ATC

tramadol; systemic, rectal

8.5

17.7

161

N02AE01

ATC

buprenorphine; parenteral, sublingual, transdermal

16.4

17.0

N06AX21

ATC

duloxetine; oral

20.6

16.7

M79.6

ICD-10 Finland

Pain in limb

8.1

16.1

108

R10.4

ICD-10 Finland

Other and unspecified abdominal pain

11.9

15.0

N06AA09

ATC

amitriptyline; systemic

18.3

14.9

QDB05

NOMESCO Finland

Revision of wound of skin of lower limb

27.0

14.1

C03CA01

ATC

furosemide; systemic

6.9

13.3

100

A46

ICD-10 Finland

Erysipelas

8.3

12.1

J01MA02

ATC

ciprofloxacin; systemic

5.6

12.0

166

J01FF01

ATC

clindamycin; systemic

6.0

12.0

118

NHQ40

NOMESCO Finland

Amputation of toe

30.1

11.6

L28

ICPC

Limited function/disability (L)

7.4

10.9

I70.2

ICD-10 Finland

Atherosclerosis of arteries of extremities

9.3

10.8

QDB10

NOMESCO Finland

Major dressing of wound of skin of lower limb

16.1

10.7

L97

ICD-10 Finland

Ulcer of lower limb, not elsewhere classified

38.1

10.7

R52.2

ICD-10 Finland

Other chronic pain

46.2

10.3

T81.4

ICD-10 Finland

Infection following a procedure, not elsewhere classified

10.2

10.1

NHQ30

NOMESCO Finland

Amputation of foot, transmetatarsal

62.7

9.9

NFQ20

NOMESCO Finland

Amputation of femur

112.5

9.6

G54.0

ICD-10 Finland

Brachial plexus disorders

112.5

9.6

PD4AC

NOMESCO Finland

Arterigography of lower extremity with X-ray

+∞

9.6

N06AX16

ATC

venlafaxine; oral

7.5

9.1

L17

ICPC

Foot/toe symptom/complaint

5.0

9.1

102

SPAT1229

SPAT

Assessment of need for aid

9.2

9.1

SPAT1148

SPAT

Treatment of chronic ulcer or burn

7.0

9.0

N05CF01

ATC

zopiclone; oral

4.7

8.8

118

NA3BG

NOMESCO Finland

Lumbar spine MRI examination with high intensity magnet

15.0

8.8

M51.1

ICD-10 Finland

Lumbar and other intervertebral disc disorders with radiculopathy

8.5

8.7

N06AX11

ATC

mirtazapine; oral

4.4

8.5

136

ZXE20

NOMESCO Finland

More than three and less than five hours

6.1

8.2

R10.1

ICD-10 Finland

Pain localized to upper abdomen

10.5

8.0

E11.5

ICD-10 Finland

Type 2 diabetes mellitus, with peripheral circulatory complications

49.9

7.9

Z89.5

ICD-10 Finland

Acquired absence of leg at or below knee

87.7

7.5

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

6.1

7.5

N03AE01

ATC

clonazepam; systemic

10.3

7.4

S18

ICPC

Laceration/cut

3.7

7.4

188

M54.5

ICD-10 Finland

Low back pain

4.9

7.3

ZXD05

NOMESCO Finland

Urgent procedure

3.9

7.3

144

R06.0

ICD-10 Finland

Dyspnoea

4.5

7.1

A28

ICPC

Limited function/disability NOS

5.1

7.1

Z01.8

ICD-10 Finland

Other specified special examinations

4.9

7.0

S97

ICPC

Chronic ulcer skin

9.1

7.0

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

5.0

6.9

A41.9

ICD-10 Finland

Sepsis, unspecified

18.7

6.9

A01

ICPC

Pain general/multiple sites

10.1

6.9

E11.7

ICD-10 Finland

Type 2 diabetes mellitus, with multiple complications

8.6

6.7

A49.9

ICD-10 Finland

Bacterial infection, unspecified

6.1

6.7

ZXA00

NOMESCO Finland

Right side

4.0

6.7

104

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.5

6.7

WX306

NOMESCO Finland

Lumbar epidural anesthesy

8.9

6.4

J01MA12

ATC

levofloxacin; systemic

4.3

6.4

SPAT1301

SPAT

No procedures

3.5

6.4

163

TK800

NOMESCO Finland

Hemodialysis

29.2

6.4

N06AA10

ATC

nortriptyline; systemic

+∞

6.3

F45.4

ICD-10 Finland

Persistent somatoform pain disorder

+∞

6.3

P06

ICPC

Sleep disturbance

6.4

6.2

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.3

6.2

222

N05CD07

ATC

temazepam; oral

5.2

6.1

N02AA59

ATC

codeine, combinations excl. psycholeptics; systemic

3.3

6.1

190

M19.0

ICD-10 Finland

Primary arthrosis of other joints

9.2

6.1

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3007853) Bacteria identified in Skin by Aerobe culture

5.40

11.40

3.2

1.5

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

4.42

9.76

4.0

2.5

19.1

24.0

0.99

(3023368) Bacteria identified in Blood by Culture

187

3.92

9.57

9.9

3.5

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

6.70

8.64

9.9

8.6

—

(3026008) Bacteria identified in Urine by Culture

175

3.58

8.18

4.5

2.7

—

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

4.65

7.77

2.0

1.6

—

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

4.56

7.59

1.9

1.6

—

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

306

3.42

7.57

7.2

3.7

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

319

3.37

7.31

7.9

5.4

umol/l

10.0

11.7

1.06

306

(40768797) Stomach Pathology biopsy report

4.10

7.31

1.4

1.2

—

(3042936) Bacteria identified in Isolate by Culture

3.57

6.53

7.1

1.8

—

(3032080) INR in Blood by Coagulation assay

270

2.87

5.80

15.5

10.1

inr

1.7

1.2

—

(3016502) Oxygen saturation in Arterial blood

3.78

5.72

6.9

6.5

94.3

95.7

0.18

(3005715) Vancomycin [Mass/volume] in Serum or Plasma

17.31

5.51

12.9

11.0

mg/l

11.8

12.1

—

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

3.28

5.47

2.5

1.7

—

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

264

2.71

5.23

2.1

2.0

pmol/l

93.2

92.5

0.03

142

(3008152) Bicarbonate [Moles/volume] in Arterial blood

4.18

5.17

12.4

8.4

mmol/l

24.6

25.3

0.37

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

5.78

5.16

2.9

1.3

—

(3013707) Erythrocyte sedimentation rate by Westergren method

486

3.02

4.90

7.3

3.4

mm/h

17.0

12.8

1.07

447

(3019060) Gas panel - Arterial blood

3.82

4.87

5.4

4.8

—

(3012516) Albumin [Mass/volume] in Urine

201

2.63

4.75

3.9

3.0

mg/l

2373.5

68.8

0.78

141

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

195

2.62

4.65

3.6

2.1

u/l

105.2

832.7

1.16

182

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

103

2.96

4.63

4.9

3.3

ng/l

392.2

526.1

0.11

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

3.85

4.38

1.4

1.5

—

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

3.13

4.33

1.8

1.5

—

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

143

2.63

4.20

3.8

2.0

—

(3021788) Differential panel - Synovial fluid

8.63

4.15

1.8

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

7.84

3.95

2.6

1.8

—

(42870588) Differential panel, method unspecified - Blood

204

2.36

3.74

8.6

5.0

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

2.70

3.62

2.5

1.9

31.1

29.0

0.67

(3044941) Cell count panel - Synovial fluid

10.57

3.55

1.7

1.8

—

(3019150) Specific gravity of Urine by Refractometry

144

2.36

3.26

5.5

2.9

kg/l

1.0

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

101

2.55

3.26

4.3

2.6

mmol/l

0.8

1.07

(3020682) Albumin/Creatinine [Ratio] in Urine

216

2.19

3.19

4.9

3.8

mg/mmol

21.3

10.9

0.55

141

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

2.95

3.15

1.9

1.8

g/l

0.2

0.01

(3044640) Blood type and Crossmatch panel - Blood

201

2.20

3.13

4.5

2.0

—

(3000494) Fungus identified in Specimen by Culture

2.66

3.05

2.4

1.4

—

(3018418) pH of Serum or Plasma

187

2.19

3.04

7.1

3.1

7.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

443

2.12

2.88

8.6

3.5

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.50

2.86

1.4

—

(3044889) 12 lead EKG panel

475

2.14

2.83

4.9

3.9

—

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

700

2.90

2.82

40.4

11.1

mg/l

23.6

24.7

0.13

547

(3015377) Calcium [Moles/volume] in Serum or Plasma

209

2.09

2.79

4.7

2.8

mmol/l

2.3

2.4

0.90

187

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

8.72

2.78

1.2

—

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

2.41

2.74

1.8

1.5

—

(3012544) pH of Venous blood

2.80

2.57

8.5

3.1

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

2.67

2.51

2.2

2.4

nmol/l

408.6

423.0

0.08

(3021879) Hepatitis B virus core Ab [Presence] in Serum

2.75

2.48

1.4

1.5

—

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

115

2.20

2.42

2.3

1.6

—

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

6.53

2.40

1.6

1.4

—

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

3.21

2.21

1.6

1.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.67

2.21

1.2

2.1

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

4.20

2.07

1.8

1.3

—

(3028026) IgM [Mass/volume] in Serum or Plasma

3.00

2.06

1.7

2.1

g/l

0.8

2.1

—

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

274

1.81

2.02

6.3

3.2

ng/l

32.9

57.8

0.97

201

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

4.74

1.96

2.0

1.3

—

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

732

2.37

1.90

41.7

14.0

mmol/l

4.0

0.00

713

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

733

2.35

1.90

41.5

13.8

mmol/l

139.2

139.8

1.06

716

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

3.21

1.84

5.7

3.8

—

(3049717) Cytology report of Urine Cyto stain

3.21

1.84

2.6

—

(3000991) Gas panel - Venous blood

2.47

1.78

11.9

4.6

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

4.00

1.74

1.0

1.1

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

4.00

1.74

1.4

1.3

—

(3027945) Reticulocytes/100 erythrocytes in Blood

2.13

1.71

1.8

2.9

2.0

1.6

0.92

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

131

1.89

1.69

4.3

3.2

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.72

1.55

1.3

1.4

—

(1761868) Lipid panel - Serum or Plasma

286

0.54

1.53

2.4

2.7

—

(36304419) Bacteria [Presence] in Urine

160

1.77

1.53

6.5

2.3

—

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

221

1.69

1.50

6.2

2.8

—

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

2.45

1.48

2.2

3.2

g/l

9.0

9.9

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

3.24

1.45

1.2

1.0

g/l

0.2

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

3.24

1.45

1.8

1.3

—

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

3.05

1.37

1.8

1.3

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

3.05

1.37

2.0

1.3

—

(3035350) Ketones [Presence] in Urine by Test strip

318

1.59

1.35

5.2

3.1

estimate

0.0

—

(4010399)

2.22

1.33

1.4

—

(3009261) Glucose [Presence] in Urine by Test strip

323

1.55

1.24

5.2

3.1

estimate

0.0

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

1.88

1.21

1.3

1.1

u/ml

0.9

8.0

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.88

1.13

28.2

24.6

—

1.2

—

(3021601) Nitrite [Presence] in Urine by Test strip

320

1.51

1.10

6.9

4.3

estimate

0.0

—

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

2.21

1.08

11.7

4.4

mmol/l

26.6

24.1

—

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

2.34

1.04

2.0

1.3

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

2.34

1.04

1.0

—

(36660697) Celiac disease serology panel - Serum

1.97

1.04

1.0

1.1

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

1.73

1.01

3.6

2.5

e6/l

0.8

0.5

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

771

1.78

0.88

18.2

8.8

u/l

28.2

27.6

0.09

744

(40768804) Tissue Pathology biopsy report

250

1.43

0.82

2.0

1.9

—

(3015736) pH of Urine

251

1.42

0.80

5.4

3.0

—

(40761535) Cells panel - Urine sediment

1.74

0.77

3.3

3.2

—

(3022145) Colonoscopy Study observation

1.70

0.75

1.2

1.4

—

(3029937) Albumin [Presence] in Urine by Test strip

180

1.45

0.75

6.3

3.1

estimate

0.0

—

(3022621) pH of Urine by Test strip

1.86

0.74

4.7

1.8

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.64

0.74

1.3

1.6

—

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

1.62

0.73

3.9

2.8

e6/l

0.0

0.6

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.76

0.72

9.0

3.6

2.0

1.5

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.76

0.72

13.7

4.3

0.6

0.7

—

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

1.62

0.69

11.3

3.5

—

(3018095) Leukocytes [#/volume] in Urine

220

1.39

0.68

7.0

3.0

e6/l

52.6

99.7

0.41

157

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

261

1.35

0.62

6.0

3.1

—

(3003338) MCHC [Mass/volume]

609

1.37

0.62

43.0

15.0

g/l

331.1

333.4

1.12

604

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.59

0.61

1.7

1.9

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.61

0.0

4.5

—

(40768800) Prostate Pathology biopsy report

0.00

0.61

0.0

1.2

—

(21494755) Public health laboratory ask at order entry panel

0.54

0.59

1.0

1.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

666

1.37

0.56

36.7

12.5

39.1

40.0

0.37

473

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

1.50

0.55

3.9

4.2

ug/l

2.5

184.7

—

(3017446) Testosterone [Moles/volume] in Serum or Plasma

1.50

0.55

3.6

2.3

nmol/l

14.5

13.3

—

(40758558) Short blood count panel - Blood

147

1.37

0.50

8.4

6.3

—

(3007164) IgA [Mass/volume] in Serum or Plasma

120

1.40

0.50

1.5

1.4

g/l

2.8

2.3

0.32

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

1.65

0.44

3.2

1.9

—

(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma

1.44

0.43

1.4

2.5

ug/l

3.0

5.9

—

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

1.41

0.43

2.1

—

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

0.00

0.41

0.0

1.5

—

(3022313) Gas panel - Capillary blood

1.50

0.41

2.6

5.1

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

1.40

0.40

1.6

1.1

iu/ml

131.3

33.0

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.41

0.39

3.2

2.4

—

(3021589) Normoblasts [#/volume] in Blood

307

1.23

0.37

19.5

8.4

e9/l

0.0

0.80

248

(40761511) CBC panel - Blood by Automated count

777

1.36

0.35

37.5

11.9

—

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

418

1.20

0.33

3.1

2.6

—

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

100

0.68

0.32

1.7

1.5

—

(4035726)

1.29

0.31

1.3

1.6

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

1.35

0.29

1.6

2.0

1.5

—

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

226

1.21

0.29

4.9

4.4

20.6

20.3

—

114

(3002256) Pathology report gross observation

0.71

0.25

1.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

192

1.19

0.23

5.8

2.7

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

1.30

0.23

1.0

1.3

—

(3000963) Hemoglobin [Mass/volume] in Blood

819

1.29

0.22

51.5

17.5

g/l

130.6

136.9

3.10

802

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

101

0.77

0.22

1.8

1.3

—

(3035941) MCH [Entitic mass]

819

1.29

0.22

51.0

17.4

30.2

30.4

0.55

801

(3024731) MCV [Entitic volume]

819

1.29

0.22

51.1

17.4

91.4

91.2

0.12

801

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

0.21

0.0

1.1

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.21

0.0

1.1

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.3

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.21

0.0

2.3

—

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

0.00

0.20

0.0

1.1

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

1.20

0.18

1.6

1.5

—

(3013512) EKG study

203

0.86

0.17

5.5

3.8

—

(3000492) Spirometry study

1.21

0.17

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

159

1.16

0.16

6.9

4.0

—

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

191

1.13

0.13

1.3

1.4

—

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

165

0.89

0.09

2.1

3.0

ug/l

0.4

0.7

—

115

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

1.04

0.08

9.8

2.9

mmol/l

1.2

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

0.87

0.07

4.9

7.1

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

723

1.05

0.01

5.5

4.4

mmol/l

6.2

5.9

0.89

662

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

684

0.98

0.00

30.5

11.1

ml/min/173m2

84.8

80.4

0.88

551

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.0

1.0

—

(4306422)

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

0.00

0.0

1.5

—

94.5

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

3.6

—

1.7

—

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

0.00

0.0

1.1

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.1

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

0.0

1.7

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

3.5

—

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

0.00

0.0

1.0

—

(3019225) pH of Specimen

0.85

0.00

4.4

5.8

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

98.5

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(4268621)

0.00

0.0

2.5

—

(3052649) Adenosine deaminase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

2.2

—

12.8

—

(3036782) Glucose [Moles/volume] in Pleural fluid

0.00

0.0

1.4

—

7.2

—

(40761536) Microorganisms panel - Urine sediment

0.87

0.00

12.2

2.8

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

1087.3

—

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

0.00

0.0

25.0

—

910.4

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.2

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.2

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

(3011648) Oxygen content in Venous blood

0.00

0.0

2.6

—

10.9

—

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

0.00

0.0

1.4

—

(4281824)

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.1

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.0

31.9

—

1655.3

—

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

0.00

0.0

1.0

—

(3036428) Adenosine deaminase [Enzymatic activity/volume] in Pleural fluid

0.00

0.0

1.3

—

5.3

—

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

0.00

0.0

1.2

—

113.0

—

(4024509)

0.00

0.0

1.0

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.98

0.00

2.2

1.3

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

-0.00

0.0

1.4

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

2.8

—

4.2

—

(3000012) Reticulocyte production index

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

2.8

—

106.9

—

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

0.00

-0.00

0.0

2.8

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

14.8

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

-0.00

0.0

1.6

—

12.8

—

Mortality – FinRegistry

↥

Association

Association between endpoint PHANTOMLIMB and mortality.

Females

Parameter	HR [95% CI]	p-value
PHANTOMLIMB	2.807 [1.79, 4.39]	< 0.001
Birth year	0.993 [0.98, 1.0]	0.11

During the follow-up period (1.1.1998 — 31.12.2019), 90 out of 255 females with PHANTOMLIMB died.

Males

Parameter	HR [95% CI]	p-value
PHANTOMLIMB	2.059 [1.54, 2.76]	< 0.001
Birth year	0.984 [0.97, 0.99]	0.001

During the follow-up period (1.1.1998 — 31.12.2019), 116 out of 349 males with PHANTOMLIMB died.

Mortality risk

Mortality risk for people of age

years, who have PHANTOMLIMB.

N-year risk	Females	Males
1	0.292%	0.332%
5	1.62%	1.938%
10	4.051%	5.199%
15	7.699%	10.008%
20	12.73%	16.672%

Relationships between endpoints

↥

Index endpoint: PHANTOMLIMB – Phantom limb syndrome with pain

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

Phantom limb syndrome with pain

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints