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30102006: glycogeenstapelingsziekte type 1b (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I\Glucose-6-phosphate transport defect

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
Glucose-6-phosphate transport defect	Is a	Glycogen storage disease	false	Inferred relationship	Some
Glucose-6-phosphate transport defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Glucose-6-phosphate transport defect	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glucose-6-phosphate transport defect	Finding site	Liver structure	false	Inferred relationship	Some
Glucose-6-phosphate transport defect	Finding site	Body system structure	false	Inferred relationship	Some
Glucose-6-phosphate transport defect	Is a	Glycogen storage disease, type I	true	Inferred relationship	Some
Glucose-6-phosphate transport defect	Finding site	Liver structure	true	Inferred relationship	Some	2

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
50375011	Glucose-6-phosphate transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484483017	Glycogen storage disease type Ib	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484484011	Glucose 6-phosphate transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
761070014	Glucose-6-phosphate transport defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
344741000146117	glycogeenstapelingsziekte type 1b	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
344751000146119	glycogeenstapelingsziekte type 1b (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)