59990008: Mucopolysaccharidosis III-B (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-B (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis III-B (disorder)

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-B (disorder)
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-B (disorder)

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-B (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

1232023015 MPS III-B - Mucopolysaccharidosis III-B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1232024014 Sanfilippo syndrome B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1232025010 Alpha-N-acetylglucosaminidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1232026011 MPSIIIB - Mucopolysaccharidosis type IIIB en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1232027019 N-Acetyl-alpha-D-glucosaminidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1232028012 Mucopolysaccharidosis III-B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970944012 Mucopolysaccharidosis III-B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

99654013 Mucopolysaccharidosis, MPS-III-B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

99655014 Sanfilippo syndrome, type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

99656010 alpha-N-acetylglucosaminidase 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 III-B (disorder)	est un(e) (attribut)	Sanfilippo syndrome	true	Inferred relationship	Some
Mucopolysaccharidosis III-B (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis III-B (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets