879937000: Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Disorder of glycoprotein metabolism\Oligosaccharidosis\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Congenital disease\Inborn error of metabolism\...
• \Disorder of glycoprotein metabolism\Oligosaccharidosis\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
• \Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3993909017	Schindler disease type 1	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3993910010	Alpha-N-acetylgalactosaminidase deficiency type 1	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3993911014	Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4570366015	NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start