64716005: 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

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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fucosidosis

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

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

\Disorder of glycoprotein metabolism\Oligosaccharidosis\Fucosidosis

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

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

107550019 Fucosidosis en Synonym Active Entire term case insensitive SNOMED CT core module
107551015 Fucosidosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
107552010 Fucosidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
107553017 alpha-L-fucosidase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
804140014 Fucosidosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1232603015 Alpha-L-fucosidase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
223481000000110 A-fucosidase deficiency en Synonym Inactive Entire term case sensitive SNOMED CT United Kingdom Edition module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fucosidosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Fucosidosis	Is a	Lipid storage disease	false	Inferred relationship	Existential restriction modifier
Fucosidosis	Is a	Disorder of glycoprotein metabolism	false	Inferred relationship	Existential restriction modifier
Fucosidosis	Is a	Dysostosis multiplex group	false	Inferred relationship	Existential restriction modifier
Fucosidosis	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Fucosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Fucosidosis	Is a	Oligosaccharidosis	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Juvenile fucosidosis	Is a	False	Fucosidosis	Inferred relationship	Existential restriction modifier
Infantile fucosidosis	Is a	True	Fucosidosis	Inferred relationship	Existential restriction modifier
Juvenile fucosidosis	Is a	True	Fucosidosis	Inferred relationship	Existential restriction modifier
Adult fucosidosis	Is a	True	Fucosidosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets