Mucinosis of skin

L12_MUCINOSISOFSKIN

skin disease: Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.

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 — L98.5 Cause of death: ICD-10 — L98.5 2 out of 7 registries used, show all original rules.	37
4. Check minimum number of events None	37
5. Include endpoints None	37
6. Filter based on genotype QC (FinnGen only)	37

Control definitions (FinnGen only)

Control exclude: L12_OTHERSKINSUBCUTIS

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L98
Name in latin: Mucinosis cutis

NAME	L12_MUCINOSISOFSKIN
CONTROL_EXCLUDE	L12_OTHERSKINSUBCUTIS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L985
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	L985
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 Mucinosis of skin 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	187	128	58
Only index persons	174	120	54
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	55.32	54.91	55.89
Only index persons	54.52	53.90	55.89

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	37	25	12
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	55.67	54.79	57.49

-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

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40768443) Skin Pathology biopsy report

24.55

17.79

1.3

1.2

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

12.62

9.47

1.4

1.5

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

12.09

8.48

1.2

1.5

—

(3037522) Nuclear Ab [Titer] in Serum

7.02

7.90

1.9

1.6

286.7

829.1

titre

—

(3004588) Protein electrophoresis panel - Serum or Plasma

10.17

7.50

2.3

1.2

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

11.42

5.11

1.1

1.2

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

10.36

4.88

1.2

1.3

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

12.31

4.78

1.3

1.0

—

(3006504) Eosinophils/100 leukocytes in Blood

134

4.16

3.96

8.8

4.7

2.8

0.01

125

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

13.92

3.90

1.0

1.2

—

(3019069) Monocytes/100 leukocytes in Blood

136

4.07

3.83

9.1

5.0

8.6

8.4

0.11

127

(42870588) Differential panel, method unspecified - Blood

103

3.80

3.82

8.7

4.3

—

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

4.12

3.68

1.6

—

(3022096) Basophils/100 leukocytes in Blood

130

3.85

3.66

9.2

4.5

0.7

0.6

0.34

120

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

11.59

3.63

3.2

1.0

—

(3004616) Nuclear Ab [Presence] in Serum

9.92

3.39

1.2

1.1

—

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

7.54

3.35

1.1

1.3

0.2

0.3

g/l

—

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

3.64

3.24

1.6

1.8

0.2

0.7

mg/l

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

6.90

3.18

1.1

1.3

1.1

1.2

g/l

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

8.66

3.18

1.0

—

(3026493) Urate [Moles/volume] in Serum or Plasma

3.40

3.18

1.5

1.9

7245.7

9414.2

umol/l

0.07

(3022313) Gas panel - Capillary blood

9.37

2.83

2.8

1.5

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

6.26

2.65

1.2

1.7

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

130

3.03

2.65

3.1

3.9

36.3

35.9

g/l

0.10

122

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

113

2.99

2.64

2.5

1.6

83.5

93.7

pmol/l

0.51

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

7.00

2.45

2.4

1.9

—

(3012544) pH of Venous blood

4.14

2.43

1.3

2.1

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

129

2.74

2.26

5.3

4.5

1.2

mmol/l

0.44

121

(3026008) Bacteria identified in Urine by Culture

2.72

2.21

4.2

2.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.38

2.18

2.3

1.2

—

(3013707) Erythrocyte sedimentation rate by Westergren method

229

3.17

2.15

6.6

4.4

11.6

10.7

mm/h

0.18

209

(3020682) Albumin/Creatinine [Ratio] in Urine

2.73

2.12

4.1

3.7

5.7

10.3

mg/mmol

—

(3000991) Gas panel - Venous blood

3.67

1.99

1.9

3.7

—

(3012516) Albumin [Mass/volume] in Urine

2.66

1.97

3.5

2.8

37.1

90.7

mg/l

—

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

2.64

1.87

1.5

1.3

26.8

30.2

iu/ml

—

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

3.11

1.85

1.1

1.5

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

4.27

1.77

3.4

3.5

0.2

0.1

e6/l

—

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

105

2.39

1.75

2.9

3.7

38.5

26.6

ng/l

0.20

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

189

2.59

1.75

4.0

3.6

—

(3019225) pH of Specimen

3.21

1.75

2.7

5.6

—

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

2.90

1.72

1.1

1.6

—

(1002224) Polysomnography panel

3.95

1.67

1.0

1.1

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

108

2.30

1.62

1.9

3.3

46.9

32.0

u/l

0.33

100

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

2.48

1.51

1.6

1.2

2.0

15.1

u/ml

—

(3037467) Urinalysis macro (dipstick) panel - Urine

212

2.31

1.45

5.6

4.0

—

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

2.28

1.42

3.1

2.2

—

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

2.88

1.26

2.0

5.2

23.8

25.3

mmol/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

2.17

1.22

1.9

4.4

—

(36660697) Celiac disease serology panel - Serum

2.72

1.19

1.2

1.1

—

(3013512) EKG study

2.03

1.10

3.6

3.0

—

(40768804) Tissue Pathology biopsy report

140

1.93

1.10

2.6

1.8

—

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

2.06

1.04

1.3

1.2

2.0

2.5

g/l

—

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

2.16

1.03

1.1

1.5

—

(36304419) Bacteria [Presence] in Urine

0.44

0.95

3.8

2.4

—

(3002256) Pathology report gross observation

2.09

0.95

1.3

1.1

—

(3044640) Blood type and Crossmatch panel - Blood

1.79

0.82

3.2

2.3

—

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

0.48

0.80

3.0

1.4

—

(40768797) Stomach Pathology biopsy report

1.77

0.71

1.3

1.5

—

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

144

1.66

0.71

4.9

3.9

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

1.90

0.69

5.2

4.6

33.2

32.8

—

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

1.77

0.64

1.0

1.5

—

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

0.00

0.62

0.0

1.4

—

(3042936) Bacteria identified in Isolate by Culture

1.69

0.57

3.2

1.6

—

(1761868) Lipid panel - Serum or Plasma

126

0.62

0.56

3.9

2.8

—

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

1.56

0.50

1.3

1.5

—

(3023368) Bacteria identified in Blood by Culture

1.56

0.45

5.7

5.0

—

(3022145) Colonoscopy Study observation

1.59

0.43

1.2

1.3

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

0.42

0.0

4.0

—

107.6

—

(3000494) Fungus identified in Specimen by Culture

1.54

0.42

2.0

1.5

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.42

0.0

1.8

—

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

109

1.46

0.42

3.8

2.6

—

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

0.00

0.41

0.0

1.0

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

0.00

0.41

0.0

1.2

—

34.8

—

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

0.65

0.29

6.0

3.3

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

289

1.45

0.28

8.5

4.9

39.0

38.8

mmol/mol

0.04

272

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.22

0.0

1.6

—

44.9

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.22

0.0

1.4

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.22

0.0

1.4

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.22

0.0

1.4

—

(3016879) Cocaine [Presence] in Urine

0.00

0.22

0.0

1.4

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.22

0.0

1.4

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.22

0.0

1.4

—

(3027008) Opiates [Presence] in Urine

0.00

0.22

0.0

1.4

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

0.21

0.0

1.1

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.2

—

(4034850)

0.00

0.20

0.0

21.0

—

(3002385) Erythrocyte distribution width [Ratio]

258

0.80

0.17

25.8

15.8

14.0

14.1

0.09

251

(3009542) Hematocrit [Volume Fraction] of Blood

293

0.82

0.17

23.3

13.2

38.6

39.7

0.48

230

(40758558) Short blood count panel - Blood

1.15

0.17

11.1

7.8

—

(3044889) 12 lead EKG panel

222

1.23

0.16

3.7

3.8

—

(40761511) CBC panel - Blood by Automated count

324

0.91

0.10

20.3

11.8

—

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

1.12

0.09

1.6

1.4

—

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

301

1.18

0.08

5.2

4.3

5.7

5.8

mmol/l

0.26

281

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

132

0.87

0.08

5.2

3.4

—

(3015736) pH of Urine

131

0.99

0.00

4.5

3.1

—

(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

3.0

—

(4027681)

0.00

0.0

1.0

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.8

—

(4306422)

0.00

0.0

1.2

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.6

—

221.0

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.3

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

1.4

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

312

0.96

0.00

5.3

4.3

1.4

1.5

mmol/l

0.85

287

(3011985) Renin [Units/volume] in Plasma

0.00

0.0

1.2

—

17.8

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.7

—

75.5

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.93

0.00

1.2

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

3.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

100

1.00

0.00

4.1

3.0

—

(4268621)

0.00

0.0

1.5

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

3.8

—

36.8

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

302

0.97

0.00

4.9

3.9

1.3

mmol/l

0.00

276

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.00

-0.00

0.0

1.4

—

94.6

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

-0.00

0.0

1.9

—

(3011288) Drugs identified in Urine by Screen method

0.00

-0.00

0.0

1.8

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

-0.00

0.0

1.1

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

3.6

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

-0.00

0.0

1.1

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

-0.00

0.0

1.1

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

3.3

—

23.5

—

(3014051) Protein [Presence] in Urine by Test strip

0.00

-0.00

0.0

2.0

—

(3052851) Hemolysis interference index of Serum or Plasma

0.00

-0.00

0.0

5.2

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

-0.00

0.0

1.0

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

-0.00

0.0

1.4

—

222.7

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

-0.00

0.0

1.7

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_MUCINOSISOFSKIN and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_MUCINOSISOFSKIN.

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: L12_MUCINOSISOFSKIN – Mucinosis of skin

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Mucinosis 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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints