43916004: Mucopolysaccharidosis type VII (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis type VII (disorder)

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII (disorder)
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII (disorder)

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis type VII (disorder)

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

2971858017 Mucopolysaccharidosis type VII (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493710017 Sly disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493711018 Mucopolysaccharidosis type VII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493712013 Beta-glucuronidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493713015 MPS VII - Mucopolysaccharidosis VII en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

73228011 Mucopolysaccharidosis, MPS-VII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

73229015 Sly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

73230013 beta-Glucuronidase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

73231012 GUSB deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

73232017 GUS deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis type VII (disorder)	est un(e) (attribut)	Mucopolysaccharidosis	true	Inferred relationship	Some
Mucopolysaccharidosis type VII (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis type VII (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis type VII (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

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Reference Sets

Description inactivation indicator reference set