284449005: Congenital total 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\Congenital total 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\Congenital total lipodystrophy (disorder)

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

\Disease\Degenerative disorder\Lipodystrophy\Congenital total 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\Congenital total lipodystrophy (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital total lipodystrophy (disorder)
\Disease\Disorder of connective tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital total lipodystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)

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
Congenital total lipodystrophy (disorder)	Is a	Lipodystrophy	true	Inferred relationship	Some
Congenital total lipodystrophy (disorder)	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Some	2
Congenital total lipodystrophy (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital total lipodystrophy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	2
Congenital total lipodystrophy (disorder)	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Congenital total lipodystrophy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital total lipodystrophy (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Congenital total lipodystrophy (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Congenital total lipodystrophy (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital total lipodystrophy (disorder)	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Some	1
Congenital total lipodystrophy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Congenital total lipodystrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital total lipodystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Congenital total lipodystrophy (disorder)	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	True	Congenital total lipodystrophy (disorder)	Inferred relationship	Some
Generalized congenital lipodystrophy with myopathy (disorder)	Is a	True	Congenital total lipodystrophy (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
423109014	Berardinelli's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
423110016	Lawrence-Seip syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
423111017	Seip's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
423112012	Congenital total lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
678342011	Congenital total lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1495355018	Lipoatrophic diabetes mellitus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1495356017	Total lipoatrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3029639016	Berardinelli-Seip congenital lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3029702014	Congenital generalised lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3029742016	Congenital generalized lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3029802015	Beradinelli-Seip syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11384881000172119	diabète lipoatrophique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11384891000172116	LCBS - lipodystrophie congénitale de Berardinelli-Seip	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
11384901000172117	lipodystrophie généralisée congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4180261000172116	congenitale totale lipodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4180271000172113	congenitale gegeneraliseerde lipodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4180281000172111	syndroom van Berardinelli-Seip	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4180291000172114	Berardinelli-Seip-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)