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819953000: Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2020. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3858288010 Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3858289019 Glycogen storage disease due to muscle phosphorylase kinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3858290011 Glycogen storage disease type 9D en Synonym Active Only initial character case insensitive SNOMED CT core module
3858291010 Glycogen storage disease type IXd en Synonym Active Only initial character case insensitive SNOMED CT core module
3858292015 Glycogenosis type 9D 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
Glycogen storage disease due to muscle phosphorylase kinase deficiency Is a Glycogen storage disease type IX true Inferred relationship Existential restriction modifier
Glycogen storage disease due to muscle phosphorylase kinase deficiency Finding site Liver structure true Inferred relationship Existential restriction modifier 1
Glycogen storage disease due to muscle phosphorylase kinase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Glycogen storage disease due to muscle phosphorylase kinase deficiency Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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