237964009: Glycogen synthase 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 synthase deficiency

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\Glycogen synthase deficiency
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Glycogen synthase deficiency
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Glycogen synthase 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 synthase 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 synthase 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 synthase deficiency
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Glycogen synthase deficiency

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Glycogen synthase deficiency

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Glycogen synthase deficiency

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency

\affection d'un muscle squelettique\Glycogen synthase deficiency

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen synthase deficiency
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen synthase deficiency
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen synthase deficiency
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Glycogen synthase deficiency
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\Glycogen synthase deficiency
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Glycogen synthase deficiency
\Disease\affection musculaire\affection d'un muscle squelettique\Glycogen synthase deficiency
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\Glycogen synthase deficiency
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen synthase deficiency
\Disease\trouble métabolique\Disorder of carbohydrate metabolism\maladie de stockage du glycogène (trouble)\Glycogen synthase deficiency
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen synthase deficiency
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Glycogen synthase 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

356651013 Glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356652018 Glycogen storage disease type 0 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626775011 Glycogen synthase 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
Glycogen synthase deficiency	est un(e) (attribut)	affection d'un muscle squelettique	true	Inferred relationship	Some
Glycogen synthase deficiency	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Glycogen synthase deficiency	est un(e) (attribut)	affection du foie	true	Inferred relationship	Some
Glycogen synthase deficiency	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Glycogen synthase deficiency	est un(e) (attribut)	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Glycogen synthase deficiency	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	2
Glycogen synthase deficiency	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	1
Glycogen synthase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Glycogen synthase deficiency	est un(e) (attribut)	maladie de stockage du glycogène (trouble)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hepatic glycogen synthase deficiency (disorder)	est un(e) (attribut)	True	Glycogen synthase deficiency	Inferred relationship	Some
Muscle and heart glycogen synthase deficiency (disorder)	Due to	True	Glycogen synthase deficiency	Inferred relationship	Some	2
Muscle and heart glycogen synthase deficiency (disorder)	est un(e) (attribut)	False	Glycogen synthase deficiency	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

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)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356651013	Glycogen synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356652018	Glycogen storage disease type 0	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626775011	Glycogen synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core