68390005: Sphingolipid activator protein 1 deficiency (disorder)

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

\Neurological lesion\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Sphingolipid activator protein 1 deficiency

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

\Leucodystrophy\Metachromatic leucodystrophy (disorder)\Sphingolipid activator protein 1 deficiency

\Hereditary degenerative disease of central nervous system\Metachromatic leucodystrophy (disorder)\Sphingolipid activator protein 1 deficiency

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	Due to	True	Sphingolipid activator protein 1 deficiency	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
113595017	Sphingolipid activator protein 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
808219010	Sphingolipid activator protein 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233038014	Saposin B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233039018	SAPI - Sphingolipid activator protein I deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3800591000005118	sphingolipid aktivatorprotein 1-mangel	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	dansk modul