297255007: Hepatic glycogen phosphorylase kinase deficiency (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\trouble métabolique\Disorder of carbohydrate metabolism\maladie de stockage du glycogène (trouble)\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic glycogen phosphorylase kinase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

437744011 Hepatic glycogen phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

692567011 Hepatic glycogen phosphorylase kinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hepatic glycogen phosphorylase kinase deficiency	est un(e) (attribut)	Glycogen phosphorylase kinase deficiency, autosomal recessive	true	Inferred relationship	Some
Hepatic glycogen phosphorylase kinase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Hepatic glycogen phosphorylase kinase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
Hepatic glycogen phosphorylase kinase deficiency	localisation d'une constatation (attribut)	foie	false	Inferred relationship	Some
Hepatic glycogen phosphorylase kinase deficiency	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some
Hepatic glycogen phosphorylase kinase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Hepatic glycogen phosphorylase kinase deficiency	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
437744011	Hepatic glycogen phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
692567011	Hepatic glycogen phosphorylase kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core