OMOP Concept 36716652
GM3 synthase deficiency
StandardConditionSNOMED722762005Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to GM3 synthase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563799 | Amish Infantile Epilepsy Syndrome | Non-standard |
| Nebraska Lexicon | 722762005 | Infantile-onset symptomatic epilepsy syndrome | Non-standard |
Synonyms
Alternative names recorded for GM3 synthase deficiency across source vocabularies.
- Amish infantile epilepsy syndrome
- deficiencia de gangliósido GM3 sintasa
- deficiencia de gangliósido GM3 sintasa (trastorno)
- deficiencia de GM3 sintasa
- Ganglioside GM3 synthase deficiency
- Ganglioside GM3 synthase deficiency (disorder)
- Infantile-onset symptomatic epilepsy syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(28)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of lipid storage and metabolism
- 1Inherited metabolic disorder of nervous system
- 1Seizure disorder
- 2Autosomal hereditary disorder
- 2Disorder of brain
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Seizure
- 3Congenital disease
- 3Disorder of head
- 3Disorder of nervous system
- 3Disorder of the central nervous system
- 3Finding of brain
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 3Metabolic disease
- 3Seizure related finding
- 4Central nervous system finding
- 4Disease
- 4Disorder of body system
- 4Disorder of fetus and/or newborn
- 4Genetic disease
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