192787004: B 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\B variant hexosaminidase A deficiency

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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease\B 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\B 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\B 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\B 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\B variant hexosaminidase A deficiency
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\B 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\B variant hexosaminidase A deficiency

\Congenital disease\Inborn error of metabolism\...

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

296986019 B variant hexosaminidase A deficiency en Synonym Active Case sensitive SNOMED CT core

576606015 B variant hexosaminidase A deficiency (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
B variant hexosaminidase A deficiency	Is a	Tay-Sachs disease	true	Inferred relationship	Some
B variant hexosaminidase A deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
B variant hexosaminidase A deficiency	Finding site	Structure of nervous system	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
B variant hexosaminidase A deficiency - infantile	Is a	True	B variant hexosaminidase A deficiency	Inferred relationship	Some
B variant hexosaminidase A deficiency - juvenile	Is a	True	B variant hexosaminidase A deficiency	Inferred relationship	Some
B variant hexosaminidase A deficiency - adult	Is a	True	B variant hexosaminidase A deficiency	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set