238031009: Arylsulfatase A deficiency (disorder)

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

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency

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

\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency

\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Arylsulfatase A 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)\Arylsulfatase A deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Arylsulfatase A 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)\Arylsulfatase A deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Arylsulfatase A 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)\Arylsulfatase A 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)\Arylsulfatase A 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)\Arylsulfatase A 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)\Arylsulfatase A deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leucodystrophy (disorder)\Arylsulfatase A deficiency
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leucodystrophy (disorder)\Arylsulfatase A 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
Arylsulfatase A deficiency	Is a	Metachromatic leucodystrophy	false	Inferred relationship	Some
Arylsulfatase A deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Arylsulfatase A deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Arylsulfatase A deficiency	Is a	Metachromatic leucodystrophy (disorder)	true	Inferred relationship	Some
Arylsulfatase A deficiency	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Arylsulfatase A deficiency	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Arylsulfatase A deficiency	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Arylsulfatase A deficiency	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Arylsulfatase A deficiency	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metachromatic leukodystrophy, adult type	Is a	False	Arylsulfatase A deficiency	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	Is a	False	Arylsulfatase A deficiency	Inferred relationship	Some
Metachromatic leukodystrophy, late infantile type	Is a	False	Arylsulfatase A deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356777011	Severe deficiency of arylsulfatase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356778018	Severe deficiency of arylsulphatase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356779014	Arylsulfatase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356780012	Cerebroside sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356781011	ARSA - Arylsulphatase A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356782016	ARSA - Arylsulfatase A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356783014	Cerebroside sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356784015	Arylsulphatase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626853018	Arylsulfatase A deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
974221000052111	brist på arylsulfatas A	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)