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 involving the integument of fetus OR newborn\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\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital total lipodystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Congenital total lipodystrophy (disorder)
\Disease\Degenerative disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\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\Congenital connective tissue disorder\Congenital total lipodystrophy (disorder)
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\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	Existential restriction modifier (core metadata concept)
Congenital total lipodystrophy (disorder)	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital total lipodystrophy (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital total lipodystrophy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital total lipodystrophy (disorder)	Is a	Congenital connective tissue disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital total lipodystrophy (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital total lipodystrophy (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital total lipodystrophy (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital total lipodystrophy (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital total lipodystrophy (disorder)	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital total lipodystrophy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital total lipodystrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital total lipodystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital total lipodystrophy (disorder)	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital total lipodystrophy (disorder)	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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	Congenital total lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy	Is a	True	Congenital total lipodystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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
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	Only initial character case insensitive (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	Only initial character 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
1495354019	Familial lipodystrophic diabetes	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1495355018	Lipoatrophic diabetes mellitus	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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	Only initial character case insensitive (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	Only initial character 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
6052721000241118	LCBS - lipodystrophie congénitale de Berardinelli-Seip	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6052731000241116	lipodystrophie généralisée congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6052721000241118	LCBS - lipodystrophie congénitale de Berardinelli-Seip	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6052731000241116	lipodystrophie généralisée congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module