723675006: Sialidosis type 1 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Myoclonic disorder\Sialidosis\Sialidosis type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis\Sialidosis type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Sialidosis type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Sialidosis type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Sialidosis type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Sialidosis type 1
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sialidosis\Sialidosis type 1
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Sialidosis type 1
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Sialidosis type 1
• \Disease\Disorder of body system\Neurological disorder\Myoclonic disorder\Sialidosis\Sialidosis type 1
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis\Sialidosis type 1
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Sialidosis type 1
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Sialidosis type 1
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Sialidosis type 1
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Sialidosis type 1
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Sialidosis type 1
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Sialidosis\Sialidosis type 1
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Sialidosis type 1
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Sialidosis type 1
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Sialidosis type 1
• \Disease\Movement disorder\Myoclonic disorder\Sialidosis\Sialidosis type 1

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3425516010	Sialidosis type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3425517018	Sialidosis type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3425518011	Cherry red spot myoclonus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3425519015	Lipomucopolysaccharidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3425520014	Normomorphic sialidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3425521013	A very rare lysosomal storage disease which is the normosomatic form of sialidosis with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. The prevalence is unknown but it is less frequent than sialidosis type 2. This disease is due to a mutation of the N-acetyl-alpha-neuraminidase-1 (NEU1) gene (6p21) encoding the lysosomal enzyme neuraminidase that initiates the degradation of sialoglycoconjugates in lysosomes. Mutations lead to a decrease in enzyme activity and consequently to an accumulation of sialyloligosaccharides in tissues. Disease severity is linked to level of residual neuraminidase activity in vivo and varies between patients. Inherited in an autosomal recessive manner.	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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