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

See these related core endpoints for full statistics:

L12_OTHPIGMENTATION

Other disorders of diminished melanin formation

Endpoint Browser

L12_OTHERDISMELANIN

No definition available.

Suggest a new description

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — L81.6 Cause of death: ICD-10 — L81.6 2 out of 7 registries used, show all original rules.	10
4. Check minimum number of events None	10
5. Include endpoints None	10
6. Filter based on genotype QC (FinnGen only)	9

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: L81
Name in latin: Hypomelaninismus alius

NAME	L12_OTHERDISMELANIN
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	L816
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	L816
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

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List of similar endpoints to Other disorders of diminished melanin formation based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

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	123	69	54
Only index persons	92	54	38
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	-	15.73	5.86
Only index persons	19.42	26.27	9.69

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	9	6	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	63.89	64.00	-

-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

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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.

No data available

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3000494) Fungus identified in Specimen by Culture

9.73

2.55

1.0

2.1

—

(3026008) Bacteria identified in Urine by Culture

0.00

1.87

0.0

3.5

—

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

0.00

0.69

0.0

3.9

—

1.79

—

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

0.00

0.68

0.0

3.2

—

0.78

—

(1761868) Lipid panel - Serum or Plasma

2.21

0.54

4.4

3.5

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

0.00

0.23

0.0

1.4

—

32.09

—

(3012544) pH of Venous blood

0.00

0.23

0.0

2.5

—

7.41

—

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

0.00

0.23

0.0

1.4

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.00

0.22

0.0

1.2

—

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

0.00

0.22

0.0

4.4

—

19.80

—

(46236952) Glomerular filtration rate [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)/1.73 sq M

0.00

0.22

0.0

1.6

—

71.00

—

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

0.00

0.0

1.0

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.0

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

0.00

0.0

2.0

—

140.40

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.8

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

0.00

0.0

3.2

—

39.54

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.0

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.0

1.6

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.8

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.8

—

52.20

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

3.51

—

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

0.00

-0.00

0.0

4.5

—

0.03

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

0.00

-0.00

0.0

2.4

—

24.90

—

(3027008) Opiates [Presence] in Urine

0.00

-0.00

0.0

1.0

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

0.00

—

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

0.00

-0.00

0.0

1.0

—

4.16

—

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

0.00

-0.00

0.0

1.1

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.00

-0.00

0.0

2.7

—

0.65

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

0.00

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

3.95

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

8.31

—

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

+∞

-0.00

22.9

12.5

24.70

24.50

u/l

—

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

8.84

—

(3000991) Gas panel - Venous blood

0.00

-0.00

0.0

7.0

—

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

0.00

-0.00

0.0

1.0

—

0.86

—

(40768793) Breast Pathology biopsy report

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

0.00

—

(40761511) CBC panel - Blood by Automated count

+∞

-0.00

22.6

13.2

—

(3027944) Amphetamines [Presence] in Urine

0.00

-0.00

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

0.00

-0.00

0.0

1.0

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

1.0

—

0.00

—

(21494755) Public health laboratory ask at order entry panel

0.00

-0.00

0.0

1.2

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

-0.00

0.0

2.7

—

1.13

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_OTHERDISMELANIN and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_OTHERDISMELANIN.

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_OTHERDISMELANIN – Other disorders of diminished melanin formation

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

Other disorders of diminished melanin formation

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints