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\Disorder of glycoprotein metabolism\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\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Sialidosis type 1
\Disease\Disorder of body system\Disorder of nervous system\Myoclonic disorder\Sialidosis\Sialidosis type 1
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\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\Disorder of glycoprotein metabolism\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3425516010 Sialidosis type 1 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3425517018 Sialidosis type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

3425518011 Cherry red spot myoclonus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3425519015 Lipomucopolysaccharidosis en Synonym Active Entire term case insensitive SNOMED CT core module

3425520014 Normomorphic sialidosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sialidosis type 1	Is a	Sialidosis	true	Inferred relationship	Existential restriction modifier
Sialidosis type 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Sialidosis type 1	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	1
Sialidosis type 1	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3425516010	Sialidosis type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3425517018	Sialidosis type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3425518011	Cherry red spot myoclonus syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3425519015	Lipomucopolysaccharidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3425520014	Normomorphic sialidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module