FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.21 | FHIR Version n/a User: [n/a]

284449005: Congenital total lipodystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy

\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy

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

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

Descriptions:

Id Description Lang Type Status Case? Module

423109014 Berardinelli's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

423110016 Lawrence-Seip syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

423111017 Seip's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

423112012 Congenital total lipodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

678342011 Congenital total lipodystrophy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1495355018 Lipoatrophic diabetes mellitus en Synonym Active Entire term case insensitive SNOMED CT core module

1495356017 Total lipoatrophy en Synonym Active Entire term case insensitive SNOMED CT core module

3029639016 Berardinelli-Seip congenital lipodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module

3029702014 Congenital generalised lipodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

3029742016 Congenital generalized lipodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

3029802015 Beradinelli-Seip syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital total lipodystrophy	Is a	Lipodystrophy	true	Inferred relationship	Existential restriction modifier
Congenital total lipodystrophy	Finding site	Structure of subcutaneous fatty tissue	false	Inferred relationship	Existential restriction modifier	2
Congenital total lipodystrophy	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Congenital total lipodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	2
Congenital total lipodystrophy	Is a	Congenital connective tissue disorder	true	Inferred relationship	Existential restriction modifier
Congenital total lipodystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital total lipodystrophy	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	1
Congenital total lipodystrophy	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	1
Congenital total lipodystrophy	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Congenital total lipodystrophy	Finding site	Structure of subcutaneous fatty tissue	false	Inferred relationship	Existential restriction modifier	1
Congenital total lipodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	1
Congenital total lipodystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Congenital total lipodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	2
Congenital total lipodystrophy	Finding site	Structure of subcutaneous fatty tissue	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lipodystrophy, intellectual disability, deafness syndrome	Is a	True	Congenital total lipodystrophy	Inferred relationship	Existential restriction modifier
Generalized congenital lipodystrophy with myopathy	Is a	True	Congenital total lipodystrophy	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
423109014	Berardinelli's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
423110016	Lawrence-Seip syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
423111017	Seip's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
423112012	Congenital total lipodystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
678342011	Congenital total lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1495355018	Lipoatrophic diabetes mellitus	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1495356017	Total lipoatrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3029639016	Berardinelli-Seip congenital lipodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3029702014	Congenital generalised lipodystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3029742016	Congenital generalized lipodystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3029802015	Beradinelli-Seip syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module