111383007: Dysmorphic sialidosis, juvenile form (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of movement (finding)\Movement disorder\Myoclonic disorder\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\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\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 (disorder)\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 (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Sialidosis\Dysmorphic sialidosis\Dysmorphic sialidosis, juvenile form
\Disease\Congenital disease (disorder)\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

178621014 Dysmorphic sialidosis, juvenile form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

630929010 Dysmorphic sialidosis, juvenile form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

833941000052116 dysmorf sialidos, juvenil form sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

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
178621014	Dysmorphic sialidosis, juvenile form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
630929010	Dysmorphic sialidosis, juvenile form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
833941000052116	dysmorf sialidos, juvenil form	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)