55912009: ziekte van McArdle (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 V

\Muscle finding\Disorder of muscle\...

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

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

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

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

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

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

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

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Id	Description	Lang	Type	Status	Case?	Module
92984015	Glycogen storage disease, type V	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
92985019	Myophosphorylase deficiency glycogenosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
92986018	McArdle's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
92987010	GSD V	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
92988017	Muscle glycogen phosphorylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
497455012	Glycogenosis, type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
497456013	McArdle disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
497457016	Glycogen storage disease type V	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
794359016	Glycogen storage disease, type V (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3035750013	Glycogen storage disease type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12511000146112	ziekte van McArdle	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12521000146119	glycogenose type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
936391000146110	ziekte van McArdle (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10260071000146112	Erfelijke spierstofwisselingsziekte, gekenmerkt door steeds zwakker en dunner wordende spieren.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)