699315005: neutrale lipidestapeling met myopathie (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Neutral lipid storage disease with myopathy (disorder)

\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)

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

\Hereditary disorder of musculoskeletal system\Neutral lipid storage disease with myopathy (disorder)

\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Neutral lipid storage disease with myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neutral lipid storage disease with myopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neutral lipid storage disease with myopathy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neutral lipid storage disease with myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Neutral lipid storage disease with myopathy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Neutral lipid storage disease with myopathy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Neutral lipid storage disease with myopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neutral lipid storage disease with myopathy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neutral lipid storage disease with myopathy (disorder)	Is a	Lipid storage myopathy	true	Inferred relationship	Some
Neutral lipid storage disease with myopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Neutral lipid storage disease with myopathy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Neutral lipid storage disease with myopathy (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Neutral lipid storage disease with myopathy (disorder)	Is a	Hereditary myopathy (disorder)	true	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
2983772016	Neutral lipid storage disease without ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983780011	Neutral lipid storage disease with myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983783013	Neutral lipid storage disease with myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112421000146112	neutrale lipidestapeling met myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
980451000146117	neutrale lipidestapeling met myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)