238021002: B variant hexosaminidase A deficiency - infantile (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\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile

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

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

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

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

\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\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile
\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\B variant hexosaminidase A deficiency\B variant hexosaminidase A deficiency - infantile

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
B variant hexosaminidase A deficiency - infantile	Is a	B variant hexosaminidase A deficiency	true	Inferred relationship	Some
B variant hexosaminidase A deficiency - infantile	Occurrence	Congenital	true	Inferred relationship	Some	1
B variant hexosaminidase A deficiency - infantile	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets