1003375005: Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Neurological lesion\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Central nervous system complication\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Metabolic neuropathy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Disorder of body system\Disease 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 leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leukodystrophy\Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4168107010	Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4168108017	Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4168107010	Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4168108017	Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6387881000241119	leucodystrophie métachromatique par déficit en protéine I activatrice des sphingolipides	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6387881000241119	leucodystrophie métachromatique par déficit en protéine I activatrice des sphingolipides	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start