Code System Concept

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Code System Concept

Code System Concept Code	38795005
Code System Concept Name	Sialidosis (disorder)
Code System Preferred Concept Name	Sialidosis (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Superseded By Concept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	A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1229462014	Cherry-red spot myoclonus syndrome	Active	Synonym	false	false
1229463016	Mucolipidosis type I	Active	Synonym	false	false
1229464010	Neuraminidase deficiency	Active	Synonym	false	false
197386015	Mucolipidosis, type I	Active	Synonym	false	false
197387012	Cherry-red-spot myoclonus syndrome	Active	Synonym	false	false
64560011	Sialidosis	Active	Synonym	false	false
64561010	Neuroaminidase deficiency	Active	Synonym	false	false
64562015	Sialidase deficiency	Active	Synonym	false	false
64563013	Mucolipidosis I	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)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of head (disorder) {87290003 , SNOMED-CT } Disorder of glycoprotein metabolism (disorder) {238045003 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT } Lipid storage disease (disorder) {10741005 , SNOMED-CT } Mucolipidosis (disorder) {70528007 , SNOMED-CT } Myoclonic disorder (disorder) {127324008 , SNOMED-CT } Oligosaccharidosis (disorder) {1155842003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Sialidosis (disorder) {38795005 , SNOMED-CT }

Parent/Child (Relationship Type)

Combined deficiency of sialidase AND beta galactosidase (disorder) {35691006 , SNOMED-CT } Dysmorphic sialidosis (disorder) {52186006 , SNOMED-CT } Normosomatic sialidosis (disorder) {34960006 , SNOMED-CT } Sialidosis type 1 (disorder) {723675006 , SNOMED-CT }

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