238048001: Alpha-N-acetylgalactosaminidase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency

\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency

\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-N-acetylgalactosaminidase deficiency

\Fetal and/or neonatal disorder\Congenital disease\...

\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency
\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency

\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency

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

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

626876015 Alpha-N-acetylgalactosaminidase deficiency (disorder) en Fully specified name 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

962411000172111 déficit en NAGA (alpha-N-acétylgalactosaminidase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1002361000172114 déficit en alpha-N-acétylgalactosaminidase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3433571001000112 Alpha-N-Acetylgalactosaminidase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alpha-N-acetylgalactosaminidase deficiency	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Is a	Disorder of glycoprotein metabolism	false	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2
Alpha-N-acetylgalactosaminidase deficiency	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Associated morphology	Degenerative abnormality	false	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Is a	Oligosaccharidosis (disorder)	true	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	Is a	True	Alpha-N-acetylgalactosaminidase deficiency	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 2	Is a	True	Alpha-N-acetylgalactosaminidase deficiency	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder)	Is a	True	Alpha-N-acetylgalactosaminidase deficiency	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
626876015	Alpha-N-acetylgalactosaminidase deficiency (disorder)	en	Fully specified name	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
962411000172111	déficit en NAGA (alpha-N-acétylgalactosaminidase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002361000172114	déficit en alpha-N-acétylgalactosaminidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433571001000112	Alpha-N-Acetylgalactosaminidase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module