720864008: Encephalopathy due to prosaposin deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\A lysosomal storage disease belonging to the group of sphingolipidoses.
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\A lysosomal storage disease belonging to the group of sphingolipidoses.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5402518011	A lysosomal storage disease belonging to the group of sphingolipidoses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322342017	Encephalopathy due to prosaposin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322343010	Encephalopathy due to prosaposin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322344016	Combined prosaposin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5287698011	Combined saposin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
953431000172117	encéphalopathie due à un déficit en prosaposine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1014921000172112	déficit global en prosaposine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419071001000110	Enzephalopathie durch Prosaposin-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start