879937000: Alpha-N-acetylgalactosaminidase deficiency type 1 (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\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Disorder of foetus and/or newborn\Congenital disease\...
• \Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3993909017	Schindler disease type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993910010	Alpha-N-acetylgalactosaminidase deficiency type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3993911014	Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570366015	NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3994396016	A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4009619015	A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993908013	NAGA - Alpha-N-acetylgalactosaminidase deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993909017	Schindler disease type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993910010	Alpha-N-acetylgalactosaminidase deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993910010	Alpha-N-acetylgalactosaminidase deficiency type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3993911014	Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993911014	Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570366015	NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3994396016	A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4009619015	A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6007421000241115	maladie de Schindler type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007431000241118	déficit en alpha-N-acétylgalactosaminidase de type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007421000241115	maladie de Schindler type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007431000241118	déficit en alpha-N-acétylgalactosaminidase de type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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