49292002: Familial partial lipodystrophy (disorder)

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

\Finding of limb structure (finding)\Disorder of limb\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\Familial partial lipodystrophy
\Disease\Disorder of trunk (disorder)\Familial partial lipodystrophy
\Disease\Disorder of connective tissue\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	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy	Is a	Disorder of trunk (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial partial lipodystrophy	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial partial lipodystrophy	Finding site	Trunk structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Familial partial lipodystrophy	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial partial lipodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial partial lipodystrophy	Is a	Disorder of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial partial lipodystrophy	Is a	Disorder of limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial partial lipodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial partial lipodystrophy	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial partial lipodystrophy	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial partial lipodystrophy	Is a	Genetic lipodystrophy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial partial lipodystrophy type 2 (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy Kobberling type	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidaemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26.	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, genetic lipodystrophy characterised by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
LIPE-related familial partial lipodystrophy	Is a	True	Familial partial lipodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

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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
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
82117015	Kobberling-Dunnigan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
198186010	Familial partial lipodystrophy	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	Only initial character 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
3447711001000117	Lipodystrophie, partielle, familiäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876091000172112	FPLD - familial partial lipodystrophy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949301000172116	lipodystrophie partielle familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876091000172112	FPLD - familial partial lipodystrophy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949301000172116	lipodystrophie partielle familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447711001000117	Lipodystrophie, partielle, familiäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module