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26111005: metabole myopathie (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy

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
Metabolic myopathy	Is a	Myopathy	false	Inferred relationship	Some
Metabolic myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Metabolic myopathy	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Amyloid myopathy	Is a	False	Metabolic myopathy	Inferred relationship	Some
Lipid storage myopathy	Is a	True	Metabolic myopathy	Inferred relationship	Some
Mitochondrial cytopathy (disorder)	Is a	False	Metabolic myopathy	Inferred relationship	Some
Familial periodic paralysis	Is a	True	Metabolic myopathy	Inferred relationship	Some
Chronic myopathy with hypocalcaemia and hypophosphataemia	Is a	True	Metabolic myopathy	Inferred relationship	Some
Glycogen storage disease	Is a	False	Metabolic myopathy	Inferred relationship	Some
Nutritional myopathy	Is a	True	Metabolic myopathy	Inferred relationship	Some
Juvenile myopathy AND lactate acidosis	Is a	False	Metabolic myopathy	Inferred relationship	Some
Endocrine myopathy	Is a	True	Metabolic myopathy	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	True	Metabolic myopathy	Inferred relationship	Some
[X]Myopathy in metabolic diseases classified elsewhere	Is a	False	Metabolic myopathy	Inferred relationship	Some
Luft's hypermetabolic myopathy	Is a	True	Metabolic myopathy	Inferred relationship	Some
Glycogen storage disease, muscular form	Is a	True	Metabolic myopathy	Inferred relationship	Some
Porcine stress syndrome	Is a	False	Metabolic myopathy	Inferred relationship	Some
Mitochondrial myopathy	Is a	True	Metabolic myopathy	Inferred relationship	Some
Myopathy co-occurrent and due to hypercalcemia (disorder)	Is a	True	Metabolic myopathy	Inferred relationship	Some
Metabolic myopathy due to lactate transporter defect	Is a	True	Metabolic myopathy	Inferred relationship	Some
Polyglucosan body myopathy type 1 (disorder)	Is a	True	Metabolic myopathy	Inferred relationship	Some
Muscle and heart glycogen synthase deficiency (disorder)	Is a	True	Metabolic myopathy	Inferred relationship	Some
Polyglucosan body myopathy type 2	Is a	True	Metabolic myopathy	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
43754011	Metabolic myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
756506012	Metabolic myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1224974015	Myopathy in metabolic diseases	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12981000146110	metabole myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
928431000146119	metabole myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12320971000146116	spierstofwisselingsaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13080551000146115	Ernstige, erfelijke spierziekten die veroorzaakt worden door fouten in de stofwisseling van de spiercellen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)