111383007: Dysmorphic sialidosis, juvenile form (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form

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

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

Descriptions:

Id Description Lang Type Status Case? Module

178621014 Dysmorphic sialidosis, juvenile form en Synonym Active Case insensitive SNOMED CT core

630929010 Dysmorphic sialidosis, juvenile form (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis, juvenile form	Interprets	Movement	true	Inferred relationship	Some	4
Dysmorphic sialidosis, juvenile form	Occurrence	Congenital	true	Inferred relationship	Some	2
Dysmorphic sialidosis, juvenile form	Finding site	Structure of nervous system	true	Inferred relationship	Some	3
Dysmorphic sialidosis, juvenile form	Occurrence	Childhood	true	Inferred relationship	Some	1
Dysmorphic sialidosis, juvenile form	Finding site	Muscle structure	false	Inferred relationship	Some
Dysmorphic sialidosis, juvenile form	Finding site	Structure of nervous system	false	Inferred relationship	Some	2
Dysmorphic sialidosis, juvenile form	Finding site	Brain structure	false	Inferred relationship	Some
Dysmorphic sialidosis, juvenile form	Occurrence	Congenital	false	Inferred relationship	Some	3
Dysmorphic sialidosis, juvenile form	Finding site	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis, juvenile form	Is a	Dysmorphic sialidosis	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
178621014	Dysmorphic sialidosis, juvenile form	en	Synonym	Active	Case insensitive	SNOMED CT core
630929010	Dysmorphic sialidosis, juvenile form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core