57218003: Cholesterol ester storage disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency\Cholesterol ester storage disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lysosomal acid lipase deficiency\Cholesterol ester storage disease

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency\Cholesterol ester storage disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency\Cholesterol ester storage disease
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Lysosomal acid lipase deficiency\Cholesterol ester storage disease
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lysosomal acid lipase deficiency\Cholesterol ester storage disease

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
Cholesterol ester storage disease	Is a	Storage disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholesterol ester storage disease	Is a	Wolman's disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholesterol ester storage disease	Is a	Primary hypercholesterolemia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholesterol ester storage disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholesterol ester storage disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cholesterol ester storage disease	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholesterol ester storage disease	Is a	Lysosomal acid lipase deficiency	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
95170015	Cholesterol ester storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795816012	Cholesterol ester storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231699014	CESD - Cholesterol ester storage disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
95170015	Cholesterol ester storage disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
95170015	Cholesterol ester storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795816012	Cholesterol ester storage disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
795816012	Cholesterol ester storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231699014	CESD - Cholesterol ester storage disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1231699014	CESD - Cholesterol ester storage disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3445891001000114	Cholesterinester-Speicherkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
906541000172111	maladie de surcharge en cholestérol estérifié	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949931000172110	maladie de stockage des esters du cholestérol	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
906541000172111	maladie de surcharge en cholestérol estérifié	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949931000172110	maladie de stockage des esters du cholestérol	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445891001000114	Cholesterinester-Speicherkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module