238018004: Total hexosaminidase deficiency - infantile (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 (disorder)\...
• \Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\...
• \Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\...
• \Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\...
• \Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile

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
356755012	Total hexosaminidase deficiency - infantile	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626838014	Total hexosaminidase deficiency - infantile (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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