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49292002: familiaire partiële lipodystrofie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Familial partial lipodystrophy

\Finding of trunk structure\Disorder of trunk (disorder)\Familial partial lipodystrophy

\General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy

\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy

\Disease\Genetic disease\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy
\Disease\Disorder of limb (disorder)\Familial partial lipodystrophy
\Disease\Disorder of trunk (disorder)\Familial partial lipodystrophy
\Disease\Disorder of connective tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial partial lipodystrophy	Is a	Lipodystrophy	false	Inferred relationship	Some
Familial partial lipodystrophy	Is a	Disorder of trunk (disorder)	true	Inferred relationship	Some
Familial partial lipodystrophy	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Some	2
Familial partial lipodystrophy	Finding site	Skin structure	false	Inferred relationship	Some	1
Familial partial lipodystrophy	Finding site	Trunk structure	true	Inferred relationship	Some	3
Familial partial lipodystrophy	Finding site	Limb structure	true	Inferred relationship	Some	2
Familial partial lipodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	2
Familial partial lipodystrophy	Is a	Disorder of limb (disorder)	false	Inferred relationship	Some
Familial partial lipodystrophy	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Some
Familial partial lipodystrophy	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Familial partial lipodystrophy	Is a	Disorder of limb (disorder)	true	Inferred relationship	Some
Familial partial lipodystrophy	Finding site	Skin structure	false	Inferred relationship	Some	1
Familial partial lipodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Familial partial lipodystrophy	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Some	1
Familial partial lipodystrophy	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Familial partial lipodystrophy	Is a	Genetic lipodystrophy (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial partial lipodystrophy type 2 (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some
Familial partial lipodystrophy Kobberling type (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some
AKT2-related familial partial lipodystrophy	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some
CIDEC-related familial partial lipodystrophy	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some
LIPE-related familial partial lipodystrophy	Is a	True	Familial partial lipodystrophy	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
82115011	Familial lipodystrophy of limbs AND/OR trunk	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
198186010	Familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786954016	Familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8307741000146110	familiaire partiële lipodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8307751000146113	familiaire partiële lipodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)