40802007: congenitale metachromatische leukodystrofie (aandoening)

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital 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, congenital 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, congenital 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, congenital type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital 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, congenital 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, congenital type
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital type
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital 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, congenital 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, congenital type
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital 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, congenital 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, congenital 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, congenital 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, congenital type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital type
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital type
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy, congenital 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, congenital type	Is a	Metachromatic leucodystrophy	false	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Occurrence	Congenital	false	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Finding site	Body system structure	false	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Is a	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Occurrence	Congenital	true	Inferred relationship	Some	1
Metachromatic leukodystrophy, congenital type	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	2
Metachromatic leukodystrophy, congenital type	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	2
Metachromatic leukodystrophy, congenital type	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	3
Metachromatic leukodystrophy, congenital type	Associated morphology	Dystrophy	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
68053016	Metachromatic leukodystrophy, congenital type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492787017	Metachromatic leucodystrophy, congenital type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777513018	Metachromatic leukodystrophy, congenital type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6809441000146116	congenitale metachromatische leukodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6809451000146118	congenitale metachromatische leukodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6809461000146115	aangeboren metachromatische leukodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6809521000146111	congenitale sulfatidelipidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)