52677002: Deficiency of N-acetylgalactosamine-4-sulfatase (disorder)

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

\Genetic disease\maladie héréditaire\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase
\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase

\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase
\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase

\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase
\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase

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

\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase

\Storage disease\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulphatase

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

496402013 Deficiency of N-acetylgalactosamine-4-sulphatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
790712016 Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
87664011 Deficiency of N-acetylgalactosamine-4-sulfatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of N-acetylgalactosamine-4-sulphatase	est un(e) (attribut)	Deficiency of cerebroside-sulfatase	true	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-4-sulphatase	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	2
Deficiency of N-acetylgalactosamine-4-sulphatase	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Maroteaux-Lamy syndrome	est un(e) (attribut)	True	Deficiency of N-acetylgalactosamine-4-sulphatase	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)