238024005: B1 variant hexosaminidase A deficiency (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)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Congenital disease (disorder)\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

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
356761010	B1 variant hexosaminidase A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626845014	B1 variant hexosaminidase A deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
963281000052119	brist på hexosaminidas A, variant B1	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

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