1156814008: Generalized congenital lipodystrophy with myopathy (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)\Generalized congenital lipodystrophy with myopathy
\General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy

\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Generalized congenital lipodystrophy with myopathy
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy

\Muscle finding (finding)\Disorder of muscle\Generalized congenital lipodystrophy with myopathy

\Disease\Genetic disease\Genetic lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\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\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Degenerative disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of 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 (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy
\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)\Generalized congenital lipodystrophy with myopathy

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

Descriptions:

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 (core metadata concept)	1
Generalized congenital lipodystrophy with myopathy	Is a	Disorder of muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Generalized congenital lipodystrophy with myopathy	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Generalized congenital lipodystrophy with myopathy	Is a	Congenital total lipodystrophy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Generalized congenital lipodystrophy with myopathy	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy	Is a	Genetic lipodystrophy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4576249011	Generalized congenital lipodystrophy with myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576250011	Generalized congenital lipodystrophy with myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576251010	Generalised congenital lipodystrophy with myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4578435014	Generalised congenital lipodystrophy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4578436010	Generalized congenital lipodystrophy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576249011	Generalized congenital lipodystrophy with myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576250011	Generalized congenital lipodystrophy with myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576251010	Generalised congenital lipodystrophy with myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4578435014	Generalised congenital lipodystrophy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4578436010	Generalized congenital lipodystrophy type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6238121000241112	lipodystrophie congénitale généralisée avec myopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6238121000241112	lipodystrophie congénitale généralisée avec myopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module