64716005: Fucosidosis (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Glycoprotein metabolism disorder\Oligosaccharidosis\Fucosidosis
• \Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fucosidosis
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Fucosidosis
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis
• \Congenital disease\Inborn error of metabolism\...
• \Glycoprotein metabolism disorder\Oligosaccharidosis\Fucosidosis
• \Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
107550019	Fucosidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
107552010	Fucosidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
107553017	alpha-L-fucosidase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
1232603015	Alpha-L-fucosidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
804140014	Fucosidosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4570393017	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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