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297254006: Hepatic and muscle glycogen phosphorylase kinase deficiency (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
437743017 Hepatic and muscle glycogen phosphorylase kinase deficiency en Synonym Active Case insensitive SNOMED CT core
692566019 Hepatic and muscle glycogen phosphorylase kinase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hepatic and muscle glycogen phosphorylase kinase deficiency Is a Glycogen phosphorylase kinase deficiency, autosomal recessive true Inferred relationship Some
Hepatic and muscle glycogen phosphorylase kinase deficiency Finding site Body system structure false Inferred relationship Some
Hepatic and muscle glycogen phosphorylase kinase deficiency Finding site Skeletal muscle structure false Inferred relationship Some
Hepatic and muscle glycogen phosphorylase kinase deficiency Finding site Liver structure false Inferred relationship Some
Hepatic and muscle glycogen phosphorylase kinase deficiency Occurrence Congenital false Inferred relationship Some
Hepatic and muscle glycogen phosphorylase kinase deficiency Occurrence Congenital true Inferred relationship Some 1
Hepatic and muscle glycogen phosphorylase kinase deficiency Finding site Liver structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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