724841000: Genetic lipodystrophy (disorder)

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

\General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)
\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)

\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)
\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)

\Disease\Genetic disease\Genetic lipodystrophy (disorder)
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)
\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)
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)
\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)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic lipodystrophy (disorder)	Is a	Subcutaneous fat disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic lipodystrophy (disorder)	Is a	Degenerative disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic lipodystrophy (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic lipodystrophy (disorder)	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic lipodystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic lipodystrophy (disorder)	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic lipodystrophy (disorder)	Is a	Lipodystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic lipodystrophy (disorder)	Is a	Genetic disease	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	False	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	Is a	True	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy Kobberling type	Is a	False	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe neurodegenerative syndrome with lipodystrophy	Is a	True	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy	Is a	True	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Is a	True	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy	Is a	True	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Keppen Lubinsky syndrome	Is a	True	Genetic lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3444898016	Genetic lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444899012	Genetic lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444898016	Genetic lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444899012	Genetic lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
984231000172110	lipodystrophie génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
984231000172110	lipodystrophie génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module