238024005: B1 variant hexosaminidase A deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\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\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\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\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\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\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\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356761010	B1 variant hexosaminidase A deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
626845014	B1 variant hexosaminidase A deficiency (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

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