238019007: Total hexosaminidase deficiency - juvenile (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\...
• \Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis\...
• \Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\...
• \Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Fetal and/or neonatal disorder\Congenital disease\...
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\...
• \Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - juvenile

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
356756013	Total hexosaminidase deficiency - juvenile	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626839018	Total hexosaminidase deficiency - juvenile (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7261961000241119	déficit total en hexosaminidase chez l'adolescent	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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