190794006: Glucosylceramide beta-glucosidase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gaucher's disease	est un(e) (attribut)	Sphingolipidosis	true	Inferred relationship	Some
Gaucher's disease	survenue (attribut)	congénital	false	Inferred relationship	Some
Gaucher's disease	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Perinatal lethal Gaucher disease (disorder)	est un(e) (attribut)	True	Gaucher's disease	Inferred relationship	Some
Atypical Gaucher disease due to saposin C deficiency (disorder)	est un(e) (attribut)	True	Gaucher's disease	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	est un(e) (attribut)	True	Gaucher's disease	Inferred relationship	Some
Subacute neuronopathic Gaucher's disease	est un(e) (attribut)	True	Gaucher's disease	Inferred relationship	Some
Chronic non-neuropathic Gaucher's disease	est un(e) (attribut)	True	Gaucher's disease	Inferred relationship	Some
Cerebral degeneration in Gaucher's disease	Due to	True	Gaucher's disease	Inferred relationship	Some	2

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)