399045007: Juvenile fucosidosis (disorder)

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

\Genetic disease\Hereditary disease\...

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

\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)
\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Juvenile fucosidosis (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

1766965012 Juvenile fucosidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1778513010 Juvenile fucosidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1786639018 Fucosidosis, juvenile form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1786640016 Fucosidosis type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1786641017 Childhood fucosidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1786642012 Fucosidosis, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

792961000052117 juvenil fukosidos 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
Juvenile fucosidosis (disorder)	Is a	Fucosidosis	true	Inferred relationship	Some
Juvenile fucosidosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Juvenile fucosidosis (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	2
Juvenile fucosidosis (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Juvenile fucosidosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Juvenile fucosidosis (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Juvenile fucosidosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets