Code System Concept

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Code System Concept

Code System Concept Code	35691006
Code System Concept Name	Combined deficiency of sialidase AND beta galactosidase (disorder)
Code System Preferred Concept Name	Combined deficiency of sialidase AND beta galactosidase (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Superseded By Concept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 with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
486239014	GSL - Galactosialidosis	Active	Synonym	false	false
486240011	Protective protein deficiency	Active	Synonym	false	false
486241010	Combined deficiency of neuroaminidase and beta galactosidase	Active	Synonym	false	false
59532013	Combined deficiency of sialidase AND beta galactosidase	Active	Synonym	false	false
59534014	Neuraminidase deficiency with beta-galactosidase deficiency	Active	Synonym	false	false
59535010	Goldberg syndrome	Active	Synonym	false	false
59536011	Galactosialidosis	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)

Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of macula of retina (disorder) {312999006 , SNOMED-CT } Dysostosis multiplex group (disorder) {279081001 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Oligosaccharidosis (disorder) {1155842003 , SNOMED-CT } 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,