238021002: B variant hexosaminidase A deficiency - infantile (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
• \Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Tay-Sachs disease\B variant hexosaminidase A deficiency\B variant hexosaminidase A 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
356758014	B variant hexosaminidase A deficiency - infantile	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626842012	B variant hexosaminidase A deficiency - infantile (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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