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

\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

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\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:

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

906541000172111 maladie de surcharge en cholestérol estérifié fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

949931000172110 maladie de stockage des esters du cholestérol fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

896191000172118 cholesterylesterstapelingsziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

984441000172119 cholesterolesterstapelingsziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cholesterol ester storage disease	Is a	Storage disease	false	Inferred relationship	Some
Cholesterol ester storage disease	Is a	Wolman's disease	false	Inferred relationship	Some
Cholesterol ester storage disease	Is a	Primary hypercholesterolemia	false	Inferred relationship	Some
Cholesterol ester storage disease	Finding site	Body system structure	false	Inferred relationship	Some
Cholesterol ester storage disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Cholesterol ester storage disease	Has definitional manifestation	Serum cholesterol above reference range	false	Inferred relationship	Some
Cholesterol ester storage disease	Is a	Lysosomal acid lipase deficiency	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets