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190794006: Glucosylceramide beta-glucosidase deficiency (disorder)

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
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 Only initial character case insensitive (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 Only initial character 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 sensitive (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 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 Only initial character 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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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
3441011001000112 Gaucher-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4847621000241117 déficit en bêta-glucosidase acide fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4847621000241117 déficit en bêta-glucosidase acide fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441011001000112 Gaucher-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Gaucher's disease Is a Sphingolipidosis true Inferred relationship Existential restriction modifier (core metadata concept)
Gaucher's disease Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Gaucher's disease Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Gaucher's disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Acute neuronopathic Gaucher's disease (disorder) Is a True Gaucher's disease Inferred relationship Existential restriction modifier (core metadata concept)
Subacute neuronopathic Gaucher's disease Is a True Gaucher's disease Inferred relationship Existential restriction modifier (core metadata concept)
Chronic non-neuropathic Gaucher's disease Is a True Gaucher's disease Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in Gaucher's disease Due to True Gaucher's disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Perinatal lethal Gaucher disease Is a True Gaucher's disease Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Gaucher disease due to saposin C deficiency (disorder) Is a True Gaucher's disease Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

GB English

US English

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