238021002: infantiele 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\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

6435071000146118 infantiele B-variant van hexosaminidase A-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6435081000146116 infantiele B-variant van hexosaminidase A-deficiëntie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6435091000146119 infantiele B-variant van ziekte van Tay-Sachs nl Synonym (core metadata concept) Active Only initial character case insensitive (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 - 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