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 characterized by infantile neuroaxonal dystrophy.
• \Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterized 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 characterized by infantile neuroaxonal dystrophy.
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
• \Fetal and/or neonatal disorder\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 characterized 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 characterized 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 characterized by infantile neuroaxonal dystrophy.
• \Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\A very rare and severe type of NAGA deficiency characterized 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 characterized 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 characterized 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 characterized 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 characterized 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 characterized 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
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
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
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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