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Code System Concept

Code System Concept Code	5963005
Code System Concept Name	Subacute neuronopathic Gaucher's disease (disorder)
Code System Preferred Concept Name	Subacute neuronopathic Gaucher's disease (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
10915014	Subacute neuronopathic Gaucher's disease	Active	Synonym	false	false
10916010	Juvenile Gaucher's disease	Active	Synonym	false	false
10917018	Glucosylceramidase deficiency, subacute type	Active	Synonym	false	false
10918011	Gaucher's disease, type III	Active	Synonym	false	false
1231980015	Norrbottnian Gaucher disease	Active	Synonym	false	false
1231981016	Subacute neuronopathic Gaucher disease	Active	Synonym	false	false
1231982011	Juvenile Gaucher disease	Active	Synonym	false	false
1231983018	Glucocerebrosidase deficiency type III	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Glucosylceramide beta-glucosidase deficiency (disorder) {190794006 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Subacute neuronopathic Gaucher's disease (disorder) {5963005 , SNOMED-CT } Parent/Child (Relationship Type) Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) {1156813002 , SNOMED-CT }