190794006: Glucosylceramide beta-glucosidase deficiency (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)\Sphingolipidosis\Gaucher's disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Gaucher's disease

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's 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

293326016 Gaucher's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
293327013 Gaucher disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
293328015 Cerebroside lipidosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293329011 Glucocerebrosidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293330018 Kerasin histiocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293331019 Gaucher splenomegaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
293332014 Kerasin lipoidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293333016 Glucocerebrosidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293334010 Gaucher syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
293335011 Glucosylceramidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293336012 Glucosylceramide beta-glucosidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
574420017 Glucosylceramide beta-glucosidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
974201000052117 Gauchers sjukdom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gaucher's disease	Is a	Sphingolipidosis	true	Inferred relationship	Some
Gaucher's disease	Occurrence	Congenital	false	Inferred relationship	Some
Gaucher's disease	Finding site	Body system structure	false	Inferred relationship	Some
Gaucher's disease	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acute neuronopathic Gaucher's disease	Is a	True	Gaucher's disease	Inferred relationship	Some
Subacute neuronopathic Gaucher's disease	Is a	True	Gaucher's disease	Inferred relationship	Some
Chronic non-neuropathic Gaucher's disease	Is a	True	Gaucher's disease	Inferred relationship	Some
Cerebral degeneration in Gaucher's disease	Due to	True	Gaucher's disease	Inferred relationship	Some	2
Perinatal lethal Gaucher disease (disorder)	Is a	True	Gaucher's disease	Inferred relationship	Some
Atypical Gaucher disease due to saposin C deficiency (disorder)	Is a	True	Gaucher's disease	Inferred relationship	Some
Enzyme replacement therapy in Gaucher's disease (procedure)	Has focus	True	Gaucher's disease	Inferred relationship	Some	2

Reference Sets

Description inactivation indicator reference set