396338004: Metachromatic leucodystrophy (disorder)

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

\Neurological lesion\Leucodystrophy\Metachromatic leukodystrophy

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

\Leucodystrophy\Metachromatic leukodystrophy

\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy

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

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 leukodystrophy	Is a	Sphingolipidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy	Is a	Leucodystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metachromatic leukodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metachromatic leukodystrophy	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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

This concept is not in any reference sets

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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
1764255014	Metachromatic leucodystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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
1785556011	MLD	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1785557019	Metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character case insensitive (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
3442651001000114	Leukodystrophie, metachromatische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
306701000172114	leucodystrophie métachromatique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
306701000172114	leucodystrophie métachromatique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442651001000114	Leukodystrophie, metachromatische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module