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190794006: Glucosylceramide beta-glucosidase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
293326016 Gaucher's disease en Synonym Active Entire term case sensitive SNOMED CT core module
293327013 Gaucher disease en Synonym Active Entire term case sensitive SNOMED CT core module
293328015 Cerebroside lipidosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
293329011 Glucocerebrosidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
293330018 Kerasin histiocytosis en Synonym Active Entire term case insensitive SNOMED CT core module
293331019 Gaucher splenomegaly en Synonym Active Entire term case sensitive SNOMED CT core module
293332014 Kerasin lipoidosis en Synonym Active Entire term case insensitive SNOMED CT core module
293333016 Glucocerebrosidosis en Synonym Active Entire term case insensitive SNOMED CT core module
293334010 Gaucher syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
293335011 Glucosylceramidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
293336012 Glucosylceramide beta-glucosidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
574420017 Glucosylceramide beta-glucosidase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

6 descendants. Search Descendants:

Expanded Value Set

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

This concept is not in any reference sets

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