83832001: metachromatische leukodystrofie zonder arylsulfatasedeficiëntie (aandoening)

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

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)\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 leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency

\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\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 leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\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 without arylsulfatase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Metachromatic leukodystrophy without arylsulfatase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\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	Some
Metachromatic leukodystrophy without arylsulfatase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Metachromatic leukodystrophy without arylsulfatase deficiency	Is a	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Metachromatic leukodystrophy without arylsulfatase deficiency	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Metachromatic leukodystrophy without arylsulfatase deficiency	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Metachromatic leukodystrophy without arylsulfatase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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
6809311000146113	metachromatische leukodystrofie zonder arylsulfatasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6809321000146115	metachromatische leukodystrofie zonder arylsulfatasedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6809331000146118	metachromatische leukodystrofie zonder deficiëntie van arylsulfatase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6809501000146115	sulfatidelipidose zonder arylsulfatasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)