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Code System Concept

Code System Concept Code	12246008
Code System Concept Name	Acute neuronopathic Gaucher's disease (disorder)
Code System Preferred Concept Name	Acute 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Superseded By Concept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	07/31/2021
Description	The acute neurological form of Gaucher with characteristics of early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. The disease usually presents in infants aged 3 to 6 months with systemic manifestations of hepatosplenomegaly and an early onset and severe neurological syndrome. This is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that codes for the lysosomal enzyme, glucocerebrosidase. The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramidase (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, of the spleen and the bone marrow (Gaucher cells). Transmission is autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1220606014	Glucocerebrosidase deficiency type II	Active	Synonym	false	false
1220607017	Acute neuronopathic Gaucher disease	Active	Synonym	false	false
1220608010	Infantile Gaucher disease	Active	Synonym	false	false
1220609019	Cerebral acute Gaucher disease	Active	Synonym	false	false
21084010	Acute neuronopathic Gaucher's disease	Active	Synonym	false	false
21085011	Infantile Gaucher's disease	Active	Synonym	false	false
21086012	Gaucher's disease, type II	Active	Synonym	false	false
21087015	Acute cerebral Gaucher's disease	Active	Synonym	false	false
21088013	Glucosylceramidase deficiency, acute type	Active	Synonym	false	false
21089017	Infantile cerebral Gaucher's disease	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)

Acute metabolic disorder (disorder) {127339009 , SNOMED-CT } Acute nervous system disorder (disorder) {127341005 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Glucosylceramide beta-glucosidase deficiency (disorder) {190794006 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.