44359008: juveniele vorm van metachromatische leukodystrofie (aandoening)

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

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile type

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

\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile type

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile type
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile 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 leucodystrophy, juvenile 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 leucodystrophy, juvenile type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile 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 leucodystrophy, juvenile 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 leucodystrophy, juvenile type
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile type
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile 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 leucodystrophy, juvenile 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 leucodystrophy, juvenile type
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile 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 leucodystrophy, juvenile 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 leucodystrophy, juvenile 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 leucodystrophy, juvenile 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 leucodystrophy, juvenile type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile type
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile type
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leucodystrophy, juvenile 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 leucodystrophy, juvenile type	Is a	Arylsulfatase A deficiency	false	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	Finding site	Body system structure	false	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	Occurrence	Congenital	false	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	Is a	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Metachromatic leucodystrophy, juvenile type	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Metachromatic leucodystrophy, juvenile type	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Metachromatic leucodystrophy, juvenile type	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Metachromatic leucodystrophy, juvenile 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
73989014	Metachromatic leukodystrophy, juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493866013	Metachromatic leucodystrophy, juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493867016	Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
493868014	Juvenile metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493869018	Scholz cerebral sclerosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
781478019	Metachromatic leukodystrophy, juvenile type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2373171000146113	juveniele vorm van metachromatische leukodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2373181000146110	juveniele vorm van MLD	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2373191000146112	juveniele vorm van metachromatische leukodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)