Lipomatosis, not elsewhere classified

E4_LIPOMATOSIS

lipomatosis: an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders.

Suggest a new description

Endpoint definition

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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 — E88.2# Cause of death: ICD-10 — E88.2# 2 out of 7 registries used, show all original rules.	98
4. Check minimum number of events None	98
5. Include endpoints None	98
6. Filter based on genotype QC (FinnGen only)	98

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: E88
Name in latin: Lipomatosis non alibi classificata

NAME	E4_LIPOMATOSIS
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E882
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	E882
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 Lipomatosis, not elsewhere classified based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Lipomatosis, not elsewhere classified, drug-induced

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	515	278	233
Only index persons	487	269	218
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	53.98	54.63	53.59
Only index persons	54.26	54.83	53.56

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	98	59	39
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	56.26	57.23	54.81

-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)

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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.

Matched cohort

Matched cases
85: Matched controls
850

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E88.2

ICD-10 Finland

Lipomatosis, not elsewhere classified

+∞

120.4

D17.1

ICD-10 Finland

Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk

13.7

9.0

D17.2

ICD-10 Finland

Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs

24.9

8.2

M48.0

ICD-10 Finland

Spinal stenosis

6.6

8.1

N03AX12

ATC

gabapentin; oral

4.9

7.7

N03AX16

ATC

pregabalin; oral

4.0

7.3

115

D17.9

ICD-10 Finland

Benign lipomatous neoplasm, unspecified

43.6

6.9

N02AX02

ATC

tramadol; systemic, rectal

3.4

6.8

253

QBE10

NOMESCO Finland

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

6.2

6.4

215

Kela drug reimbursment

Diabetes, non-insulin-treated

3.8

6.2

102

R5140

NOMESCO Finland

Monitoring the use of the aid

5.1

6.1

Mortality – FinRegistry

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Association

Association between endpoint E4_LIPOMATOSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_LIPOMATOSIS.

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

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Index endpoint: E4_LIPOMATOSIS – Lipomatosis, not elsewhere classified

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

Lipomatosis, not elsewhere classified

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