1197751007: Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy

\constatation à propos d'une structure du tronc\affection du tronc\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy

\constatation générale à propos des tissus mous\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy

\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy

\Disease\Genetic disease\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\LIPE-related familial partial lipodystrophy
\Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\LIPE-related familial partial lipodystrophy
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\LIPE-related familial partial lipodystrophy
\Disease\affection dégénérative\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\LIPE-related familial partial lipodystrophy
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\LIPE-related familial partial lipodystrophy
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\Disease\affection d'une extrémité\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\Disease\affection du tronc\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\LIPE-related familial partial lipodystrophy
\Disease\affection du tissu conjonctif\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4697906018 FPLD6 - familial partial lipodystrophy type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4697907010 LIPE-related familial partial lipodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5025593016 Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5025594010 Lipase E, hormone sensitive type-related familial partial lipodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4697909013 A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axilla, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridaemia, hepatic steatosis, and vitiligo. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4697910015 A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axilla, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
LIPE-related familial partial lipodystrophy	est un(e) (attribut)	Connective tissue hereditary disorder	true	Inferred relationship	Some
LIPE-related familial partial lipodystrophy	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
LIPE-related familial partial lipodystrophy	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
LIPE-related familial partial lipodystrophy	est un(e) (attribut)	Familial partial lipodystrophy	true	Inferred relationship	Some
LIPE-related familial partial lipodystrophy	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
LIPE-related familial partial lipodystrophy	localisation d'une constatation (attribut)	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2
LIPE-related familial partial lipodystrophy	localisation d'une constatation (attribut)	tronc (structure corporelle)	true	Inferred relationship	Some	3
LIPE-related familial partial lipodystrophy	localisation d'une constatation (attribut)	structure d'un membre	true	Inferred relationship	Some	4
LIPE-related familial partial lipodystrophy	localisation d'une constatation (attribut)	Subcutaneous fatty tissue	true	Inferred relationship	Some	1
LIPE-related familial partial lipodystrophy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4697906018	FPLD6 - familial partial lipodystrophy type 6	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697907010	LIPE-related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5025593016	Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5025594010	Lipase E, hormone sensitive type-related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4697909013	A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axilla, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridaemia, hepatic steatosis, and vitiligo.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697910015	A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axilla, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core