64716005: Fucosidosis (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis
• \Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fucosidosis
• \trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis
• \trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis
• \trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis
• \Congenital disease\Inborn error of metabolism\...
• \Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis
• \Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
107550019	Fucosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107552010	Fucosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107553017	alpha-L-fucosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232603015	Alpha-L-fucosidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
452751000241116	fucosidose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
804140014	Fucosidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
899391000172111	fucosidose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
967421000172115	déficit en alpha-L-fucosidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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