47683004: Metachromatic leukodystrophy, late infantile type (disorder)

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

\Neurological lesion\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy, late infantile type

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

\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy, late infantile type

\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy, late infantile type

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

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, late infantile type	Is a	Arylsulfatase A deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy, late infantile type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy, late infantile type	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy, late infantile type	Is a	Metachromatic leukodystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy, late infantile type	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metachromatic leukodystrophy, late infantile type	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metachromatic leukodystrophy, late infantile type	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy, late infantile type	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy, late infantile type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
79462015	Metachromatic leukodystrophy, late infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494894011	Metachromatic leucodystrophy, late infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
785168018	Metachromatic leukodystrophy, late infantile type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230504012	Late infantile metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1788033010	Greenfield disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
79462015	Metachromatic leukodystrophy, late infantile type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
79462015	Metachromatic leukodystrophy, late infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494894011	Metachromatic leucodystrophy, late infantile type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
494894011	Metachromatic leucodystrophy, late infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
785168018	Metachromatic leukodystrophy, late infantile type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
785168018	Metachromatic leukodystrophy, late infantile type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230504012	Late infantile metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1230504012	Late infantile metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1788033010	Greenfield disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3382691001000119	Leukodystrophie, metachromatische, spät-infantile Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5910061000241113	MLD (metachromatic leukodystrophy), forme infantile tardive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5910071000241117	leucodystrophie métachromatique infantile tardive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5910081000241115	déficit en arylsulfatase A, forme infantile tardive	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5910061000241113	MLD (metachromatic leukodystrophy), forme infantile tardive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5910071000241117	leucodystrophie métachromatique infantile tardive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5910081000241115	déficit en arylsulfatase A, forme infantile tardive	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382691001000119	Leukodystrophie, metachromatische, spät-infantile Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module