720864008: Encephalopathy due to prosaposin deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalopathy due to prosaposin deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalopathy due to prosaposin deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Encephalopathy due to prosaposin deficiency
• \Disorder of head\Encephalopathy\Encephalopathy due to prosaposin deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to prosaposin deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Encephalopathy due to prosaposin deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Encephalopathy due to prosaposin deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Encephalopathy due to prosaposin deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Encephalopathy due to prosaposin deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalopathy due to prosaposin deficiency
• \Disease\Disorder of head\Encephalopathy\Encephalopathy due to prosaposin deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to prosaposin deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Encephalopathy due to prosaposin deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to prosaposin deficiency

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322342017	Encephalopathy due to prosaposin deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322343010	Encephalopathy due to prosaposin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3322344016	Combined prosaposin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3322345015	A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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