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725026008: Hepatic glycogen synthase deficiency (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3437632013 Hepatic glycogen synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3437633015 Hepatic glycogen synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3437634014 Glycogen storage disease due to hepatic glycogen synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3437635010 Glycogen storage disease due to liver glycogen synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3437636011 Glycogen storage disease type 0a en Synonym Active Only initial character case insensitive SNOMED CT core module
3437637019 Glycogenosis type 0a en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hepatic glycogen synthase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Hepatic glycogen synthase deficiency Is a Glycogen synthase deficiency true Inferred relationship Existential restriction modifier
Hepatic glycogen synthase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Hepatic glycogen synthase deficiency Finding site Liver structure true Inferred relationship Existential restriction modifier 2
Hepatic glycogen synthase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Hepatic glycogen synthase deficiency Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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