83832001: Metachromatic leukodystrophy without arylsulfatase deficiency (disorder)

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

\Neurological lesion\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency

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

\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency

\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy without arylsulfatase deficiency

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 without arylsulfatase deficiency	Is a	Metachromatic leucodystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy without arylsulfatase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy without arylsulfatase deficiency	Is a	Metachromatic leukodystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metachromatic leukodystrophy without arylsulfatase deficiency	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy without arylsulfatase deficiency	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy without arylsulfatase deficiency	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
139014012	Metachromatic leukodystrophy without arylsulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
825549016	Metachromatic leukodystrophy without arylsulfatase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2795380011	Metachromatic leucodystrophy without arylsulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
139014012	Metachromatic leukodystrophy without arylsulfatase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
139014012	Metachromatic leukodystrophy without arylsulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
505802018	Metachromatic leukodystrophy without arylsulphatase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
825549016	Metachromatic leukodystrophy without arylsulfatase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
825549016	Metachromatic leukodystrophy without arylsulfatase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2795380011	Metachromatic leucodystrophy without arylsulphatase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2795380011	Metachromatic leucodystrophy without arylsulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6320231000241113	leucodystrophie métachromatique sans déficit en arylsulfatase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6320231000241113	leucodystrophie métachromatique sans déficit en arylsulfatase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module