15892005: Mucopolysaccharidosis III-D (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, MPS-III-D

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D

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

26923019 Mucopolysaccharidosis, MPS-III-D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

26924013 Sanfilippo syndrome, type D en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

26925014 N-acetylglucosamine-6-sulfatase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2970859019 Mucopolysaccharidosis III-D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

477561015 Deficiency of N-acetylglucosamine-6-sulphatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

477562010 MPSIIID - Mucopolysaccharidosis type IIID en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

477563017 MPS III-D - Mucopolysaccharidosis III-D en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

477564011 Mucopolysaccharidosis type IIID en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

477565012 Sanfilippo syndrome D en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

477566013 Mucopolysaccharidosis III-D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

477567016 Deficiency of N-acetylglucosamine-6-sulfatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

477570017 N-acetylglucosamine-6-sulphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-III-D	est un(e) (attribut)	Sanfilippo syndrome	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-D	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-III-D	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets