297278001: metachromatische leukodystrofie door deficiëntie van cerebroside-sulfatase-activator (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator

\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Is a	Metachromatic leucodystrophy	false	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Finding site	Body system structure	false	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Occurrence	Congenital	false	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Is a	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
437768015	Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
437769011	Metachromatic leucodystrophy due to deficiency of cerebroside sulphatase activator	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2788914016	Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7363631000146111	metachromatische leukodystrofie door cerebrosidesulfatase-activatordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7363641000146115	metachromatische leukodystrofie door deficiëntie van cerebroside-sulfatase-activator	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7363661000146119	sulfatidelipidose door cerebrosidesulfatase-activatordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8200811000146113	metachromatische leukodystrofie door deficiëntie van cerebroside-sulfatase-activator (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)