238048001: Alpha-N-acetylgalactosaminidase deficiency (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\déficit en alpha-N-acétylgalactosaminidase

\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\déficit en alpha-N-acétylgalactosaminidase
\Inborn error of metabolism\Inherited metabolic disorder of nervous system\déficit en alpha-N-acétylgalactosaminidase
\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\déficit en alpha-N-acétylgalactosaminidase

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\déficit en alpha-N-acétylgalactosaminidase

\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\déficit en alpha-N-acétylgalactosaminidase
\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\déficit en alpha-N-acétylgalactosaminidase

\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\déficit en alpha-N-acétylgalactosaminidase
\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\déficit en alpha-N-acétylgalactosaminidase
\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\déficit en alpha-N-acétylgalactosaminidase
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\déficit en alpha-N-acétylgalactosaminidase

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

\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\déficit en alpha-N-acétylgalactosaminidase

\Inherited metabolic disorder of nervous system\déficit en alpha-N-acétylgalactosaminidase

\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\déficit en alpha-N-acétylgalactosaminidase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
déficit en alpha-N-acétylgalactosaminidase	est un(e) (attribut)	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Some
déficit en alpha-N-acétylgalactosaminidase	morphologie associée (attribut)	Degenerative abnormality	false	Inferred relationship	Some	1
déficit en alpha-N-acétylgalactosaminidase	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	1
déficit en alpha-N-acétylgalactosaminidase	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
déficit en alpha-N-acétylgalactosaminidase	est un(e) (attribut)	Oligosaccharidosis (disorder)	true	Inferred relationship	Some
déficit en alpha-N-acétylgalactosaminidase	est un(e) (attribut)	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
déficit en alpha-N-acétylgalactosaminidase	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
déficit en alpha-N-acétylgalactosaminidase	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
déficit en alpha-N-acétylgalactosaminidase	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
déficit en alpha-N-acétylgalactosaminidase	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
déficit en alpha-N-acétylgalactosaminidase	survenue (attribut)	congénital	true	Inferred relationship	Some	2
déficit en alpha-N-acétylgalactosaminidase	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
déficit en alpha-N-acétylgalactosaminidase	est un(e) (attribut)	Disorder of glycoprotein metabolism	false	Inferred relationship	Some
déficit en alpha-N-acétylgalactosaminidase	est un(e) (attribut)	maladie dégénérative du système nerveux central	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alpha-N-acetylgalactosaminidase deficiency type 1	est un(e) (attribut)	True	déficit en alpha-N-acétylgalactosaminidase	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 2	est un(e) (attribut)	True	déficit en alpha-N-acétylgalactosaminidase	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder)	est un(e) (attribut)	True	déficit en alpha-N-acétylgalactosaminidase	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1002361000172114	déficit en alpha-N-acétylgalactosaminidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
356825013	Schindler disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356826014	Alpha-N-acetylgalactosaminidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570365016	NAGA (alpha-N-acetylgalactosaminidase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
549621000241119	déficit en alpha-N-acétylgalactosaminidase (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
626876015	Alpha-N-acetylgalactosaminidase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
962411000172111	déficit en NAGA (alpha-N-acétylgalactosaminidase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)