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190794006: Glucosylceramide beta-glucosidase deficiency (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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


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 Some
Gaucher's disease Occurrence Congenital false Inferred relationship Some
Gaucher's disease Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Perinatal lethal Gaucher disease Is a True Gaucher's disease Inferred relationship Some
Atypical Gaucher disease due to saposin C deficiency Is a True Gaucher's disease Inferred relationship Some
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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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