722762005: Ganglioside GM3 synthase deficiency (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Ganglioside GM3 synthase deficiency (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)

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
3333383015	Ganglioside GM3 synthase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3333384014	GM3 synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3333385010	Ganglioside GM3 synthase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3526105012	Amish infantile epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3526106013	Infantile-onset symptomatic epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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