24326000: Metachromatic leukodystrophy, adult type (disorder)

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

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, adult type

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

\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, adult type

\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, adult type

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metachromatic leukodystrophy, adult type	Is a	Arylsulfatase A deficiency	false	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Occurrence	Congenital	false	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Finding site	Body system structure	false	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	Adult onset autosomal dominant leukodystrophy (disorder)	false	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Occurrence	Adulthood	false	Inferred relationship	Some	3
Metachromatic leukodystrophy, adult type	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Metachromatic leukodystrophy, adult type	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Metachromatic leukodystrophy, adult type	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Metachromatic leukodystrophy, adult type	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Metachromatic leukodystrophy, adult type	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Metachromatic leukodystrophy, adult type	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Metachromatic leukodystrophy, adult type	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	Leucodystrophy	false	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Occurrence	Adulthood	true	Inferred relationship	Some	2
Metachromatic leukodystrophy, adult type	Occurrence	Adulthood	true	Inferred relationship	Some	1
Metachromatic leukodystrophy, adult type	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
40816018	Metachromatic leukodystrophy, adult type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481887011	Metachromatic leucodystrophy, adult type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753950011	Metachromatic leukodystrophy, adult type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1223238011	Adult metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2900006014	Adult metachromatic leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3800431000005116	adult metakromatisk leukodystrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	dansk modul