89597008: glycogeenstapelingsziekte type VII (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type VII

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease, type VII

\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type VII

\Musculoskeletal finding\Disorder of musculoskeletal system\...

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

\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type VII

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type VII
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type VII

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 VII	Is a	Glycogen storage disease	false	Inferred relationship	Some
Glycogen storage disease, type VII	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease, type VII	Finding site	Liver structure	false	Inferred relationship	Some
Glycogen storage disease, type VII	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Glycogen storage disease, type VII	Is a	Glycogen storage disease, muscular form	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
148547016	Glycogen storage disease, type VII	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
148548014	Muscle phosphofructokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148549018	Tarui's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
148550018	GSD VII	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
832523013	Glycogen storage disease, type VII (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3036950011	Glycogen storage disease, type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30201000146118	ziekte van Tarui	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2184711000146119	glycogeenstapelingsziekte type VII (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2184721000146112	glycogeenstapelingsziekte type VII	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)