Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	64716005
Code System Concept Name	Fucosidosis (disorder)
Code System Preferred Concept Name	Fucosidosis (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Superseded By Concept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	Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
107550019	Fucosidosis	Active	Synonym	false	false
107552010	Fucosidase deficiency	Active	Synonym	false	false
107553017	alpha-L-fucosidase deficiency	Active	Synonym	false	false
1232603015	Alpha-L-fucosidase deficiency	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 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of glycoprotein metabolism (disorder) {238045003 , SNOMED-CT } Dysostosis multiplex group (disorder) {279081001 , SNOMED-CT } Lipid storage disease (disorder) {10741005 , SNOMED-CT } Oligosaccharidosis (disorder) {1155842003 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Fucosidosis (disorder) {64716005 , SNOMED-CT } Parent/Child (Relationship Type) Adult fucosidosis (disorder) {399249008 , SNOMED-CT } Infantile fucosidosis (disorder) {61172008 , SNOMED-CT } Juvenile fucosidosis (disorder) {56365003 , SNOMED-CT } Juvenile fucosidosis (disorder) {399045007 , SNOMED-CT }

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