396338004: metachromatische leukodystrofie (aandoening)

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

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)

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

\Leucodystrophy\Metachromatic leucodystrophy (disorder)

\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metachromatic leucodystrophy (disorder)	Is a	Sphingolipidosis	true	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Is a	Leucodystrophy	true	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Metachromatic leucodystrophy (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Metachromatic leucodystrophy (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Metachromatic leucodystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Metachromatic leucodystrophy (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Arylsulfatase A deficiency	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, late infantile type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Sphingolipid activator protein 1 deficiency	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy without arylsulfatase deficiency	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Dystonia due to metachromatic leucodystrophy (disorder)	Due to	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some	3
Dystonia due to metachromatic leucodystrophy (disorder)	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1764255014	Metachromatic leucodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1776290017	Metachromatic leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783561011	Sulphatide lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783953013	Sulfatide lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1785557019	Metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1785558012	Metachromatic leukoencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1785559016	van Bogaert-Nijssen disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1785560014	Familial progressive cerebral sclerosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1785561013	MLD - Metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
386461000146110	metachromatische leukodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
386471000146116	metachromatische leukodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7680031000146118	Metachromatische leukodystrofie (MLD) is een erfelijke stapelingsziekte waarbij het myeline (witte stof die de zenuwvezels omgeeft) wordt aangetast. Dit leidt tot spierverzwakking en het verlies van verstandelijke vermogens.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)