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\...
• \Glycoprotein metabolism disorder\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\Neurological disorder\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\Glycoprotein metabolism disorder\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\...
• \Glycoprotein metabolism disorder\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, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3993909017	Schindler disease type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3993910010	Alpha-N-acetylgalactosaminidase deficiency type 1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3993911014	Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4570366015	NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3994396016	A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	en	Definition	Active	Case sensitive	SNOMED CT core
4009619015	A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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