235908005: Glycogen storage disease type IX (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)

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\Glycogen storage disease type IX (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Glycogen storage disease type IX (disorder)

\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)
\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)
\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)
\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)

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

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

3441358013 Glycogen storage disease type IX (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

353637017 Glycogen phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

353639019 PHK - Hepatic phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

353640017 Hepatic phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

353641018 Phosphorylase kinase deficiency of liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

353642013 Glycogen storage disease type IX en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

353643015 Glycogenosis viiia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease type IX (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	est un(e) (attribut)	maladie de stockage du glycogène (trouble)	true	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	localisation d'une constatation (attribut)	foie	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	est un(e) (attribut)	affection du foie	true	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Glycogen storage disease type IX (disorder)	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen phosphorylase kinase deficiency, X-linked	est un(e) (attribut)	False	Glycogen storage disease type IX (disorder)	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	est un(e) (attribut)	True	Glycogen storage disease type IX (disorder)	Inferred relationship	Some
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	est un(e) (attribut)	True	Glycogen storage disease type IX (disorder)	Inferred relationship	Some
Glycogen storage disease type IXB (disorder)	est un(e) (attribut)	True	Glycogen storage disease type IX (disorder)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)