722762005: Ganglioside GM3 synthase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Finding of brain\Encephalopathy\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Disorder of head\Encephalopathy\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ganglioside GM3 synthase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Ganglioside GM3 synthase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Ganglioside GM3 synthase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3333383015	Ganglioside GM3 synthase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3333384014	GM3 synthase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3333385010	Ganglioside GM3 synthase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3526105012	Amish infantile epilepsy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3526106013	Infantile-onset symptomatic epilepsy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3333386011	Disease with characteristics of recurrent seizures and profound disruption of brain development. Onset is within the first few weeks after birth. The seizures tend to be refractory to treatment. Most affected children have severe intellectual disability. Vision and hearing may be normal at birth but become impaired as the disease progresses. Some affected individuals have changes in skin pigmentation. Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for the enzyme GM3 synthase, which carries out a chemical reaction that is the first step in the production of gangliosides. ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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