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Code System Concept

Code System Concept Code	723675006
Code System Concept Name	Sialidosis type 1 (disorder)
Code System Preferred Concept Name	Sialidosis type 1 (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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A very rare lysosomal storage disease which is the normosomatic form of sialidosis with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. The prevalence is unknown but it is less frequent than sialidosis type 2. This disease is due to a mutation of the N-acetyl-alpha-neuraminidase-1 (NEU1) gene (6p21) encoding the lysosomal enzyme neuraminidase that initiates the degradation of sialoglycoconjugates in lysosomes. Mutations lead to a decrease in enzyme activity and consequently to an accumulation of sialyloligosaccharides in tissues. Disease severity is linked to level of residual neuraminidase activity in vivo and varies between patients. Inherited in an autosomal recessive manner.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3425517018	Sialidosis type 1	Active	Synonym	false	false
3425518011	Cherry red spot myoclonus syndrome	Active	Synonym	false	false
3425519015	Lipomucopolysaccharidosis	Active	Synonym	false	false
3425520014	Normomorphic sialidosis	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Sialidosis (disorder) {38795005 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,