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 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

\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
\Congenital disease (disorder)\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
\Congenital disease (disorder)\Disorder of lysosomal enzyme\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

9991581000172115 maladie de Tay-Sachs infantile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9991591000172117 déficit en hexosaminidase A de variant B, forme infantile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4205071000172113 infantiele B-variant van ziekte van Tay-Sachs nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4205081000172111 infantiele B-variant van hexosaminidase A-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

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

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Active

Source

Characteristic

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This concept is not in any reference sets