192787004: B-variant van hexosaminidase A-deficiëntie (aandoening)

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

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

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

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

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

6435011000146110 B-variant van hexosaminidase A-deficiëntie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6435021000146117 B-variant van hexosaminidase A-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6435031000146115 B-variant van ziekte van Tay-Sachs nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 (body structure)	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

This concept is not in any reference sets