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64716005: 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

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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fucosidosis

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis

\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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 (core metadata concept)
Fucosidosis	Is a	Lipid storage disease (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fucosidosis	Is a	Disorder of glycoprotein metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fucosidosis	Is a	Dysostosis multiplex group	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fucosidosis	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fucosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fucosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fucosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fucosidosis	Is a	Oligosaccharidosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Juvenile fucosidosis	Is a	False	Fucosidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile fucosidosis	Is a	True	Fucosidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile fucosidosis (disorder)	Is a	True	Fucosidosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Adult fucosidosis	Is a	True	Fucosidosis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
107550019	Fucosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107552010	Fucosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107553017	alpha-L-fucosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
804140014	Fucosidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232603015	Alpha-L-fucosidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570393017	Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
107550019	Fucosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
107550019	Fucosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107552010	Fucosidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
107552010	Fucosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107553017	alpha-L-fucosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
804140014	Fucosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
804140014	Fucosidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232603015	Alpha-L-fucosidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570393017	Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3416661001000119	Fukosidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
899391000172111	fucosidose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967421000172115	déficit en alpha-L-fucosidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
899391000172111	fucosidose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967421000172115	déficit en alpha-L-fucosidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416661001000119	Fukosidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module