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1187462006: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4673854016 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
4673855015 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4673856019 Glycogenosis due to phosphoglycerate kinase 1 deficiency 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
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Is a Glycogen storage disease true Inferred relationship Existential restriction modifier
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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