1260391004: dystonie door metachromatische leukodystrofie (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Neuropathy associated with metabolic disease (disorder)\Disorder of nerve due to metabolic disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\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)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\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)\Dystonia due to metachromatic leucodystrophy (disorder)
\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)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Dystonia due to hereditary disease (disorder)\Dystonia due to metachromatic leucodystrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dystonia due to metachromatic leucodystrophy (disorder)	Is a	Dystonia	false	Inferred relationship	Some
Dystonia due to metachromatic leucodystrophy (disorder)	Is a	Central nervous system complication	false	Inferred relationship	Some
Dystonia due to metachromatic leucodystrophy (disorder)	Interprets	Movement	true	Inferred relationship	Some	2
Dystonia due to metachromatic leucodystrophy (disorder)	Due to	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some	3
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	1
Dystonia due to metachromatic leucodystrophy (disorder)	Is a	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some
Dystonia due to metachromatic leucodystrophy (disorder)	Is a	Disorder of nerve due to metabolic disease (disorder)	true	Inferred relationship	Some
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	4
Dystonia due to metachromatic leucodystrophy (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	4
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	5
Dystonia due to metachromatic leucodystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	5
Dystonia due to metachromatic leucodystrophy (disorder)	Is a	Dystonia due to hereditary disease (disorder)	true	Inferred relationship	Some
Dystonia due to metachromatic leucodystrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	6

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
5160304017	Dystonia due to metachromatic leucodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5160305016	Dystonia due to metachromatic leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5169863012	Dystonia due to metachromatic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14321381000146116	dystonie door metachromatische leukodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14321391000146119	dystonie door MLD	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14321401000146116	dystonie door metachromatische leukodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)