PHIN VADS

Code System Concept

Code System Concept Code	190794006
Code System Concept Name	Glucosylceramide beta-glucosidase deficiency (disorder)
Code System Preferred Concept Name	Glucosylceramide beta-glucosidase deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Details

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
293326016	Gaucher's disease	Active	Synonym	false	false
293327013	Gaucher disease	Active	Synonym	false	false
293328015	Cerebroside lipidosis syndrome	Active	Synonym	false	false
293329011	Glucocerebrosidase deficiency	Active	Synonym	false	false
293330018	Kerasin histiocytosis	Active	Synonym	false	false
293331019	Gaucher splenomegaly	Active	Synonym	false	false
293332014	Kerasin lipoidosis	Active	Synonym	false	false
293333016	Glucocerebrosidosis	Active	Synonym	false	false
293334010	Gaucher syndrome	Active	Synonym	false	false
293335011	Glucosylceramidase deficiency	Active	Synonym	false	false
293336012	Glucosylceramide beta-glucosidase deficiency	Active	Synonym	false	false

Associated Value Sets

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Sphingolipidosis (disorder) {238028008 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Glucosylceramide beta-glucosidase deficiency (disorder) {190794006 , SNOMED-CT }

Parent/Child (Relationship Type)