52186006: Dysmorphic sialidosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sialidosis\Dysmorphic sialidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Disorder of body system\Disorder of nervous system\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Sialidosis\Dysmorphic sialidosis
\Disease\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis

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

Descriptions:

Id Description Lang Type Status Case? Module

86860012 Dysmorphic sialidosis en Synonym Active Entire term case insensitive SNOMED CT core module
86861011 Sialidosis, type 2 en Synonym Active Entire term case insensitive SNOMED CT core module
790167011 Dysmorphic sialidosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis	Is a	Sialidosis	true	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis	Finding site	Structure of muscle tissue	false	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dysmorphic sialidosis	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis	Finding site	Skeletal and/or smooth muscle structure	false	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2
Dysmorphic sialidosis	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dysmorphic sialidosis, juvenile form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, congenital form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis, infantile form	Is a	True	Dysmorphic sialidosis	Inferred relationship	Existential restriction modifier
Dysmorphic sialidosis with renal involvement	Is a	True	Dysmorphic sialidosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
86860012	Dysmorphic sialidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
86861011	Sialidosis, type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
790167011	Dysmorphic sialidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module