1156814008: Generalized congenital lipodystrophy with myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\General finding of soft tissue\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\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\Generalized congenital lipodystrophy with myopathy

\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Generalized congenital lipodystrophy with myopathy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Generalized congenital lipodystrophy with myopathy

\Disease\Genetic disease\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Generalized congenital lipodystrophy with myopathy
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Generalized congenital lipodystrophy with myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Generalized congenital lipodystrophy with myopathy
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Degenerative disorder\Lipodystrophy\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\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\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy\Generalized congenital lipodystrophy with myopathy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4576249011 Generalized congenital lipodystrophy with myopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4576250011 Generalized congenital lipodystrophy with myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

4576251010 Generalised congenital lipodystrophy with myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

4578435014 Generalised congenital lipodystrophy type 4 en Synonym Active Entire term case insensitive SNOMED CT core module

4578436010 Generalized congenital lipodystrophy type 4 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Generalized congenital lipodystrophy with myopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Generalized congenital lipodystrophy with myopathy	Is a	Disorder of skeletal AND/OR smooth muscle	true	Inferred relationship	Existential restriction modifier
Generalized congenital lipodystrophy with myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Generalized congenital lipodystrophy with myopathy	Finding site	Structure of subcutaneous fatty tissue	true	Inferred relationship	Existential restriction modifier	1
Generalized congenital lipodystrophy with myopathy	Is a	Congenital total lipodystrophy	true	Inferred relationship	Existential restriction modifier
Generalized congenital lipodystrophy with myopathy	Finding site	Skeletal and/or smooth muscle structure	true	Inferred relationship	Existential restriction modifier	2
Generalized congenital lipodystrophy with myopathy	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Generalized congenital lipodystrophy with myopathy	Is a	Genetic lipodystrophy	true	Inferred relationship	Existential restriction modifier
Generalized congenital lipodystrophy with myopathy	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Generalized congenital lipodystrophy with myopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4576249011	Generalized congenital lipodystrophy with myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4576250011	Generalized congenital lipodystrophy with myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4576251010	Generalised congenital lipodystrophy with myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4578435014	Generalised congenital lipodystrophy type 4	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4578436010	Generalized congenital lipodystrophy type 4	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module