38795005: Sialidosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Myoclonic disorder\Sialidosis
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sialidosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis
• \Disease\Disorder of body system\Neurological disorder\Myoclonic disorder\Sialidosis
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis
• \Disease\Movement disorder\Myoclonic disorder\Sialidosis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1229463016	Mucolipidosis type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1229464010	Neuraminidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
197386015	Mucolipidosis, type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
64560011	Sialidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
64561010	Neuroaminidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
64562015	Sialidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
64563013	Mucolipidosis I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
775125012	Sialidosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4570397016	A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	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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