192787004: B 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 (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)
\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B variant hexosaminidase A deficiency (disorder)

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

296986019 B variant hexosaminidase A deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

576606015 B variant hexosaminidase A deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

296986019 B variant hexosaminidase A deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

576606015 B variant hexosaminidase A deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

576606015 B variant hexosaminidase A deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5742051000241113 déficit en hexosaminidase A de variant B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5742051000241113 déficit en hexosaminidase A de variant B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
B variant hexosaminidase A deficiency (disorder)	Is a	Tay-Sachs disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
B variant hexosaminidase A deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
B variant hexosaminidase A deficiency (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
B variant hexosaminidase A deficiency - infantile	Is a	True	B variant hexosaminidase A deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
B variant hexosaminidase A deficiency - juvenile	Is a	True	B variant hexosaminidase A deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
B variant hexosaminidase A deficiency - adult	Is a	True	B variant hexosaminidase A deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets