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33316007: GM2 gangliosidosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
55591012 Deficiency of beta-N-acetylhexosaminidase isoenzymes en Synonym Active Only initial character case insensitive SNOMED CT core module
485484018 GM2 gangliosidosis en Synonym Active Entire term case sensitive SNOMED CT core module
4553711018 GM2 gangliosidosis (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module


14 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
GM2 gangliosidosis Is a Gangliosidosis true Inferred relationship Existential restriction modifier
GM2 gangliosidosis Occurrence Congenital true Inferred relationship Existential restriction modifier 1
GM2 gangliosidosis Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Tay-Sachs disease Is a True GM2 gangliosidosis Inferred relationship Existential restriction modifier
Sandhoff disease Is a True GM2 gangliosidosis Inferred relationship Existential restriction modifier
Adult chronic GM2 gangliosidosis Is a True GM2 gangliosidosis Inferred relationship Existential restriction modifier
Infantile GM2 gangliosidosis Is a True GM2 gangliosidosis Inferred relationship Existential restriction modifier
Juvenile GM2 gangliosidosis Is a True GM2 gangliosidosis Inferred relationship Existential restriction modifier
Dystrophy of retina due to GM2 gangliosidosis Due to True GM2 gangliosidosis Inferred relationship Existential restriction modifier 2
Dystonia due to GM2 gangliosidosis Due to True GM2 gangliosidosis Inferred relationship Existential restriction modifier 2

This concept is not in any reference sets

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