61172008: Infantile fucosidosis (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fucosidosis\Infantile fucosidosis

\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis

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

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

\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis

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

101657019 Infantile fucosidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
101658012 Fucosidosis, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
101659016 Fucosidosis, fatal infantile type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1232183016 Fucosidosis type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
800205014 Infantile fucosidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile fucosidosis	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Infantile fucosidosis	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Infantile fucosidosis	survenue (attribut)	Infancy (qualifier value)	true	Inferred relationship	Some	1
Infantile fucosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Infantile fucosidosis	est un(e) (attribut)	Fucosidosis	true	Inferred relationship	Some
Infantile fucosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Infantile fucosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Infantile fucosidosis	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Infantile fucosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Infantile fucosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Infantile fucosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Infantile fucosidosis	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Infantile fucosidosis	survenue (attribut)	congénital	false	Inferred relationship	Some
Infantile fucosidosis	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1

Inbound Relationships

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Characteristic

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Reference Sets

Description inactivation indicator reference set