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722762005: Ganglioside GM3 synthase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3333383015 Ganglioside GM3 synthase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3333384014 GM3 synthase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
3333385010 Ganglioside GM3 synthase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3526105012 Amish infantile epilepsy syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3526106013 Infantile-onset symptomatic epilepsy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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