399249008: Adult fucosidosis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.\Adult fucosidosis (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\...
• \Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\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.\Adult fucosidosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1767169013	Adult fucosidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1778701019	Adult fucosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1454521000005118	Adult fukosidose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)

Expanded Value Set

Reference Sets

GB English

US English

Back to Start