773555005: Severe neurodegenerative syndrome with lipodystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Severe neurodegenerative syndrome with 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\Genetic lipodystrophy\Severe neurodegenerative syndrome with lipodystrophy

\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Severe neurodegenerative syndrome with lipodystrophy
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Severe neurodegenerative syndrome with lipodystrophy

\Disease\Genetic disease\Genetic lipodystrophy\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Severe neurodegenerative syndrome with lipodystrophy
\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\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Chronic disease\Chronic nervous system disorder\Severe neurodegenerative syndrome with lipodystrophy
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Severe neurodegenerative syndrome with lipodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3724071018 Severe neurodegenerative syndrome due to BSCL2 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3724072013 Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3724073015 Severe neurodegenerative syndrome with lipodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

3724074014 Severe neurodegenerative syndrome with lipodystrophy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe neurodegenerative syndrome with lipodystrophy	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3
Severe neurodegenerative syndrome with lipodystrophy	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Severe neurodegenerative syndrome with lipodystrophy	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Severe neurodegenerative syndrome with lipodystrophy	Finding site	Structure of subcutaneous fatty tissue	true	Inferred relationship	Existential restriction modifier	1
Severe neurodegenerative syndrome with lipodystrophy	Is a	Chronic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy	Is a	Genetic lipodystrophy	true	Inferred relationship	Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2
Severe neurodegenerative syndrome with lipodystrophy	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	2

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
3724071018	Severe neurodegenerative syndrome due to BSCL2 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3724072013	Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3724073015	Severe neurodegenerative syndrome with lipodystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3724074014	Severe neurodegenerative syndrome with lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module