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11179002: Glycogen storage disease, type IV (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\troubles métaboliques et génétiques affectant le foie\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

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

\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\trouble métabolique\troubles métaboliques et génétiques affectant le foie\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\trouble métabolique\Disorder of carbohydrate metabolism\maladie de stockage du glycogène (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\trouble métabolique\Disorder of carbohydrate metabolism\maladie de stockage du glycogène (trouble)\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\maladie de stockage du glycogène (trouble)\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease, type IV	est un(e) (attribut)	Glycogen storage disease, hepatic form	true	Inferred relationship	Some
Glycogen storage disease, type IV	est un(e) (attribut)	Glycogen storage disease, muscular form	true	Inferred relationship	Some
Glycogen storage disease, type IV	est un(e) (attribut)	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Glycogen storage disease, type IV	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Glycogen storage disease, type IV	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	3
Glycogen storage disease, type IV	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	1
Glycogen storage disease, type IV	est un(e) (attribut)	maladie de stockage du glycogène (trouble)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1495567017	Branching enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1495568010	Glycogen storage disease type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1495569019	Andersen disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1495570018	Glycogenosis, type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19358010	Glycogen storage disease, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
19359019	1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19360012	Brancher deficiency glycogen storage disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19361011	Amylopectinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
19362016	Andersen's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19363014	GSD IV	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
19364015	Branching-transferase deficiency glycogenosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3036842018	Glycogen storage disease, type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
633546018	Glycogen storage disease, type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core