Risteys · Q17_OTHER_CONGEN_MALFO

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 — Q82 Cause of death: ICD-10 — Q82 2 out of 7 registries used, show all original rules.	1574
4. Check minimum number of events None	1574
5. Include endpoints None	1574
6. Filter based on genotype QC (FinnGen only)	1574

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	17324	10148	7145
Only index persons	13543	8120	5423
Unadjusted period prevalence (%)
Whole population	0.25	0.29	0.20
Only index persons	0.26	0.30	0.21
Median age at first event (years)
Whole population	14.42	16.84	10.89
Only index persons	23.76	27.52	18.11

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	1574	1052	522
Unadjusted period prevalence (%)	0.32	0.36	0.23
Median age at first event (years)	42.20	39.72	47.20

-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)

↥

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
1418: Matched controls
14182

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q82.58

ICD-10 Finland

Congenital non-neoplastic naevus

494.5

323.0

566

Q82.50

ICD-10 Finland

Naevus flammeus

+∞

251.8

234

Q82.2

ICD-10 Finland

Mastocytosis

2158.0

188.8

179

ZXC12

NOMESCO Finland

Pulse colorlaser

262.6

140.9

142

Q82.51

ICD-10 Finland

Naevus portwine

361.1

130.8

130

QAA40

NOMESCO Finland

Laser therapy or photocoagulation of skin of head or neck

109.1

127.6

138

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

6.8

111.3

311

565

Q82.88

ICD-10 Finland

Other specified congenital malformations of skin

+∞

93.8

Q82.5

ICD-10 Finland

Congenital non-neoplastic naevus

127.4

78.8

ZQX00

NOMESCO Finland

0-4% of the skin

271.3

76.2

Q82.80

ICD-10 Finland

Benign familial pemphigus [Hailey-Hailey]

+∞

71.5

D18.0

ICD-10 Finland

Haemangioma, any site

10.5

54.0

108

110

Q82.0

ICD-10 Finland

Hereditary lymphoedema

+∞

53.5

Q82.82

ICD-10 Finland

Inherited keratosis palmaris et plantaris

+∞

50.3

QAA25

NOMESCO Finland

Destruction of lesion of head or neck

12.1

47.9

QBA40

NOMESCO Finland

Laser therapy or photocoagulation of skin of trunk

+∞

44.0

QAE10

NOMESCO Finland

Excision of other lesion extending through all layers of skin in head or neck

4.2

42.6

174

456

Q82.81

ICD-10 Finland

Keratosis follicularis [Darier-White]

+∞

41.9

Q82.9

ICD-10 Finland

Congenital malformation of skin, unspecified

+∞

38.7

D47.0

ICD-10 Finland

Histiocytic and mast cell tumours of uncertain and unknown behaviour

376.8

37.2

Q82.8

ICD-10 Finland

Other specified congenital malformations of skin

+∞

32.4

9741/3-C42.1

ICD-O-3

Malignant mastocytosis of bone marrow

+∞

30.3

QBE10

NOMESCO Finland

Excision of other lesion extending through all layers of skin of trunk

3.7

29.4

138

405

TNE25

NOMESCO Finland

Drill biopsy of bone marrow, pelvis

12.8

26.4

QBA25

NOMESCO Finland

Destruction of lesion of skin of trunk

8.8

24.2

E0000UV

ATC

1.8

23.3

596

4077

QDE10

NOMESCO Finland

Excision of other lesion extending through all layers of skin in lower limb

5.2

22.8

144

ZXC10

NOMESCO Finland

Use of laser

6.3

22.6

101

QXA25

NOMESCO Finland

Destruction of lesion of skin, site unspecified

6.4

22.3

Z2221

NOMESCO Finland

Medical doctor

1.9

22.3

415

2542

D05BB02

ATC

acitretin; oral

5.8

22.1

112

Q82.4

ICD-10 Finland

Ectodermal dysplasia (anhidrotic)

+∞

21.9

QCA40

NOMESCO Finland

Laser therapy or photocoagulation of skin of upper limb

81.4

21.7

C96.2

ICD-10 Finland

Malignant mast cell tumour

+∞

19.8

QDA40

NOMESCO Finland

Laser therapy or photocoagulation of skin of lower limb

31.8

19.3

C01CA24

ATC

epinephrine; parenteral

2.7

18.9

133

516

ZXD10

NOMESCO Finland

Scheduled procedure

1.7

18.4

518

3573

E000001

ATC

1.9

17.4

317

1898

D07AB02

ATC

hydrocortisone butyrate; topical

1.8

16.8

376

2409

Q82.1

ICD-10 Finland

Xeroderma pigmentosum

+∞

16.7

2280A

ICD-9 Finland

Haemangioma and lymphangioma, any site, Haemangioma, any site

91.1

16.6

XQ848

NOMESCO Finland

Dermatological photography

4.5

15.9

132

ZXE00

NOMESCO Finland

One hour or less

1.6

15.6

536

3864

D07BB04

ATC

hydrocortisone butyrate and antiseptics; topical

2.1

15.6

189

967

Z31.5

ICD-10 Finland

Genetic counselling

2.8

15.2

363

L30.9

ICD-10 Finland

Dermatitis, unspecified

1.9

15.0

245

1406

Z3231

NOMESCO Finland

Registered nurse

1.7

15.0

367

2404

PG1DE

NOMESCO Finland

Other extensive ultrasound examination of artery

3.5

14.7

204

Q87.21

ICD-10 Finland

Klippel-Trénaunay-Weber syndrome

+∞

14.6

Q82.3

ICD-10 Finland

Incontinentia pigmenti

+∞

14.6

QCA25

NOMESCO Finland

Destruction of lesion of skin of upper limb

14.3

14.6

I89.0

ICD-10 Finland

Lymphoedema, not elsewhere classified

12.7

14.4

ZXE10

NOMESCO Finland

More than one and less than three hours

1.6

14.1

456

3212

D07AC01

ATC

betamethasone; topical

1.6

14.1

422

2915

XW000

NOMESCO Finland

Bone marrow biopsy

3.4

13.9

203

D02AE01

ATC

carbamide; topical

2.4

13.6

113

484

Q27.4

ICD-10 Finland

Congenital phlebectasia

75.9

13.6

Q85.00

ICD-10 Finland

Neurofibromatosis, type 1

+∞

13.6

Q82.83

ICD-10 Finland

Congenital dyskeratosis

+∞

13.6

J01DB01

ATC

cefalexin; oral

1.6

13.5

1105

9694

R21

ICD-10 Finland

Rash and other nonspecific skin eruption

3.1

13.4

257

D22.9

ICD-10 Finland

Melanocytic naevi, unspecified

2.9

13.3

295

B07.9

ICD-10 Finland

Verruca simplex

3.2

13.2

233

D02AX

ATC

Other emollients and protectives

2.9

13.1

284

QAA99

NOMESCO Finland

Other local destruction of skin of head or neck

15.2

13.1

WX408

NOMESCO Finland

General anesthesy, balanced

1.6

12.2

353

2400

NK6QA

NOMESCO Finland

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

2.5

12.1

382

ZXA00

NOMESCO Finland

Right side

1.7

12.0

306

2009

L82

ICD-10 Finland

Seborrhoeic keratosis

1.9

11.6

175

973

S18

ICPC

Laceration/cut

1.5

11.2

492

3688

22700

ICD-8 Finland

Haemangioma and lymphangioma, Haemangioma

20.2

11.1

QDA25

NOMESCO Finland

Destruction of lesion of skin of lower limb

11.2

11.1

QAA50

NOMESCO Finland

Cryotherapy of skin of head or neck

7.5

11.0

D22.5

ICD-10 Finland

Melanocytic naevi of trunk

2.5

10.9

377

D07AC13

ATC

mometasone; topical

1.6

10.9

360

2521

D22.7

ICD-10 Finland

Melanocytic naevi of lower limb, including hip

4.4

10.8

QAE40

NOMESCO Finland

Repair of anomaly or lesion after disease of skin of head or neck

28.2

10.7

D07XC01

ATC

betamethasone, combinations; topical

1.9

10.4

151

826

D06AX01

ATC

fusidic acid; topical (antibiotics for topical use)

2.0

10.4

139

739

A02BA02

ATC

ranitidine; systemic

1.7

10.2

216

1338

D48.5

ICD-10 Finland

Neoplasm of uncertain or unknown behaviour: Skin

2.5

10.0

324

QCE10

NOMESCO Finland

Excision of other lesion extending through all layers of skin in upper limb

3.6

10.0

121

XQ800

NOMESCO Finland

Prick test

2.0

9.9

125

646

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

1.8

9.7

170

993

L57.0

ICD-10 Finland

Actinic keratosis

2.2

9.5

433

Q27.3

ICD-10 Finland

Peripheral arteriovenous malformation

17.7

9.4

Q27.88

ICD-10 Finland

Other specified congenital malformation of peripheral vascular system

+∞

9.4

Q85.09

ICD-10 Finland

Unspecified neurofibromatosis

+∞

9.4

WX404

NOMESCO Finland

Intravenous generell anesthesy

1.6

9.2

267

1801

A12AX

ATC

Calcium, combinations with vitamin D and/or other drugs

1.5

9.1

337

2411

R4110

NOMESCO Finland

Physiotherapy

1.5

9.1

310

2175

XQ845

NOMESCO Finland

Dermatoscopy

5.1

9.0

R06AE07

ATC

cetirizine; oral

1.4

8.9

570

4552

QB9S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in torso, unspecified

7.5

8.9

I78.9

ICD-10 Finland

Disease of capillaries, unspecified

12.6

8.9

ZXA10

NOMESCO Finland

Bilateral

1.7

8.8

212

1358

D07AA02

ATC

hydrocortisone; topical

1.7

8.8

201

1271

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

1.7

8.8

184

1137

T78.2

ICD-10 Finland

Anaphylactic shock, unspecified

4.9

8.7

Q28.2

ICD-10 Finland

Arteriovenous malformation of cerebral vessels

14.1

8.7

Z01.5

ICD-10 Finland

Diagnostic skin and sensitization tests

1.9

8.7

131

727

ZXA05

NOMESCO Finland

Left side

1.6

8.6

266

1824

Z04.8

ICD-10 Finland

Examination and observation for other specified reasons

1.8

8.6

159

948

L98.9

ICD-10 Finland

Disorder of skin and subcutaneous tissue, unspecified

5.1

8.3

Q85.0

ICD-10 Finland

Neurofibromatosis (nonmalignant)

+∞

8.3

7573E

ICD-9 Finland

Congenital anomalies of the integument, Other specified anomalies of skin[URTICARIA PIGMENTOSA (MASTOCYTOSIS)]

+∞

8.3

Z3226

NOMESCO Finland

Physiotherapist

1.6

8.3

232

1550

L85.9

ICD-10 Finland

Epidermal thickening, unspecified

10.8

8.3

D23.3

ICD-10 Finland

Benign neoplasm: Skin of other and unspecified parts of face

3.3

8.3

119

ZXD20

NOMESCO Finland

Day surgery

1.7

8.2

159

960

ZXC50

NOMESCO Finland

Cryotherapy

3.2

8.2

131

N02BE01

ATC

paracetamol; systemic, rectal

1.4

8.2

1076

9718

GD1AA

NOMESCO Finland

Thorax X-ray examination

1.4

8.1

466

3632

QBE00

NOMESCO Finland

Excision of loose skin or fold of skin from trunk

8.2

8.1

QAA10

NOMESCO Finland

Incision of skin of head or neck

11.8

8.1

ZXD31

NOMESCO Finland

Major difficulties in performing procedure

2.6

8.0

222

E000002

ATC

1.7

7.9

161

987

C44.30

ICD-10 Finland

Malignant tumor of the skin on another or unspecified part of the face without histology

7.0

7.8

Q82

ICD-10 Finland

Other congenital malformations of skin

45.2

7.7

UJF32

NOMESCO Finland

Coloscopy

1.5

7.6

268

1887

ZXE20

NOMESCO Finland

More than three and less than five hours

1.7

7.6

154

942

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

1.5

7.6

307

2230

D07AD01

ATC

clobetasol; topical

1.6

7.5

181

1163

C44.31

ICD-10 Finland

Basocellular carcinoma of the skin on another or unspecified part of the face

2.4

7.4

261

D07CA01

ATC

hydrocortisone and antibiotics; topical

1.7

7.4

168

1061

D07CC01

ATC

betamethasone and antibiotics; topical

1.7

7.4

160

998

WX110

NOMESCO Finland

Local anesthesy

1.4

7.4

909

8021

QAA05

NOMESCO Finland

Incision for biopsy of skin of head or neck

3.3

7.4

108

J01AA02

ATC

doxycycline; systemic

1.4

7.3

925

8193

S29

ICPC

Skin symptom/complaint other

1.6

7.3

204

1358

Q87.88

ICD-10 Finland

Other specified congenital malformation syndromes, not elsewhere classified

+∞

7.3

QAE50

NOMESCO Finland

Dermabrasion of superficial lesion of skin of head or neck

+∞

7.3

CBB15

NOMESCO Finland

Resection of herniated fat from eyelid

+∞

7.3

D07BA04

ATC

hydrocortisone and antiseptics; topical

1.7

7.2

147

901

WX002

NOMESCO Finland

Sedation and analgesia

1.6

7.2

206

1381

QBE99

NOMESCO Finland

Other excision or repair of lesion of skin of trunk

3.4

7.2

100

D23.5

ICD-10 Finland

Benign neoplasm: Skin of trunk

3.4

7.2

100

Z71.8

ICD-10 Finland

Other specified counselling

1.5

7.1

309

2272

D07AB08

ATC

desonide; topical

1.7

7.0

135

812

J01FA10

ATC

azithromycin; systemic

1.3

7.0

789

6836

QX3HE

NOMESCO Finland

Ultrsound examination of lesion close to skin

4.0

7.0

127

Kela drug reimbursment

Transplant complication

3.6

6.9

QBA10

NOMESCO Finland

Incision of skin of trunk

4.8

6.8

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

2.0

6.8

450

QA4S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in face

6.7

6.8

N03AX12

ATC

gabapentin; oral

1.6

6.8

166

1073

A02BC05

ATC

esomeprazole; systemic

1.4

6.7

437

3460

WXQ27

NOMESCO Finland

UVB narrow spectrum light therapy

4.3

6.7

R10.4

ICD-10 Finland

Other and unspecified abdominal pain

1.4

6.7

449

3573

M25.5

ICD-10 Finland

Pain in joint

1.4

6.6

336

2546

QD9S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in lower extremities, unspecified

6.9

6.5

JN1AE

NOMESCO Finland

Ultrasound examination of upper part of abdomen

1.9

6.5

538

NA3AA

NOMESCO Finland

Lumbar spine X-ray examination without contrast

1.8

6.4

547

J01DA01

ATC

[U] cefalexin; systemic

1.3

6.4

766

6654

J01FF01

ATC

clindamycin; systemic

1.4

6.4

304

2270

C44.51

ICD-10 Finland

Basocellular carcinoma of the skin on the torso

3.1

6.3

100

C03CA01

ATC

furosemide; systemic

1.5

6.3

228

1616

L85.1

ICD-10 Finland

Acquired keratosis [keratoderma] palmaris et plantaris

18.1

6.3

9744

FHL

+∞

6.3

Q82.52

ICD-10 Finland

Mongolian blue spot

+∞

6.3

Q82.84

ICD-10 Finland

Pseudoxanthoma elasticum

+∞

6.3

Q82.86

ICD-10 Finland

Gorlins syndrome

+∞

6.3

H43.8

ICD-10 Finland

Other disorders of vitreous body

1.9

6.2

471

M79.6

ICD-10 Finland

Pain in limb

1.4

6.2

406

3210

ICD-10 Finland

3.1

6.1

102

Y83

ICD-10 Finland

Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

2.0

6.1

409

Z00.4

ICD-10 Finland

General psychiatric examination, not elsewhere classified

1.6

6.1

138

873

TQW99

NOMESCO Finland

Other minor procedure on skin

2.3

6.1

249

TQW80

NOMESCO Finland

Local dermatologic skincare

2.7

6.1

137

J02AC01

ATC

fluconazole; systemic

1.3

6.1

490

4003

L04AA06

ATC

mycophenolic acid; systemic

3.4

6.1

R06AX27

ATC

desloratadine; oral

1.4

6.0

374

2929

XA800

NOMESCO Finland

Neuropsychological investigation

2.1

6.0

298

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_SKIN and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_OTHER_CONGEN_MALFO_SKIN	1.014 [0.88, 1.17]	0.843
Birth year	1.0 [0.99, 1.01]	0.907

During the follow-up period (1.1.1998 — 31.12.2019), 482 out of 9147 females with Q17_OTHER_CONGEN_MALFO_SKIN died.

Males

Parameter	HR [95% CI]	p-value
Q17_OTHER_CONGEN_MALFO_SKIN	1.033 [0.9, 1.18]	0.638
Birth year	0.989 [0.98, 1.0]	0.024

During the follow-up period (1.1.1998 — 31.12.2019), 444 out of 6458 males with Q17_OTHER_CONGEN_MALFO_SKIN died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_SKIN.

N-year risk	Females	Males
1	0.131%	0.204%
5	0.653%	1.158%
10	1.623%	3.183%
15	3.116%	6.268%
20	5.536%	10.467%

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_SKIN – Other congenital malformations of skin

GWS hits: 4

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

NAME	Q17_OTHER_CONGEN_MALFO_SKIN
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q82
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q82
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

Other congenital malformations of skin

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