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:

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

Expanded Value Set

This concept is not in any reference sets

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