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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402978010 | GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402979019 | GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterised by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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
Component annotation with string value reference set (foundation metadata concept)
FHIR