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399045007: Juvenile fucosidosis (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Disorder of glycoprotein metabolism\Oligosaccharidosis\Fucosidosis\Juvenile fucosidosis

\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis\Juvenile fucosidosis

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fucosidosis\Juvenile fucosidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Fucosidosis\Juvenile fucosidosis
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis\Juvenile fucosidosis
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis\Juvenile fucosidosis

\Congenital disease\Inborn error of metabolism\...

\Disorder of glycoprotein metabolism\Oligosaccharidosis\Fucosidosis\Juvenile fucosidosis

\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Fucosidosis\Juvenile fucosidosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1766965012 Juvenile fucosidosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1778513010 Juvenile fucosidosis en Synonym Active Entire term case insensitive SNOMED CT core module
1786639018 Fucosidosis, juvenile form en Synonym Active Entire term case insensitive SNOMED CT core module
1786640016 Fucosidosis type II en Synonym Active Only initial character case insensitive SNOMED CT core module
1786641017 Childhood fucosidosis en Synonym Active Entire term case insensitive SNOMED CT core module
1786642012 Fucosidosis, type II en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile fucosidosis	Is a	Fucosidosis	true	Inferred relationship	Existential restriction modifier
Juvenile fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Juvenile fucosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Juvenile fucosidosis	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier	2
Juvenile fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Juvenile fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Juvenile fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Juvenile fucosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Juvenile fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Juvenile fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Juvenile fucosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Juvenile fucosidosis	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Juvenile fucosidosis	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1766965012	Juvenile fucosidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1778513010	Juvenile fucosidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786639018	Fucosidosis, juvenile form	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786640016	Fucosidosis type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1786641017	Childhood fucosidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1786642012	Fucosidosis, type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module