722762005: Ganglioside GM3 synthase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Seizure\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Ganglioside GM3 synthase deficiency (disorder)
\Disease\Congenital disease (disorder)\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

3892081000052118 brist på gangliosid GM3-syntas sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ganglioside GM3 synthase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ganglioside GM3 synthase deficiency (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Ganglioside GM3 synthase deficiency (disorder)	Is a	Seizure disorder	true	Inferred relationship	Some
Ganglioside GM3 synthase deficiency (disorder)	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Ganglioside GM3 synthase deficiency (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Ganglioside GM3 synthase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ganglioside GM3 synthase deficiency (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
3892081000052118	brist på gangliosid GM3-syntas	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)