699315005: Neutral lipid storage disease with myopathy (disorder)

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\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 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 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\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\Congenital disease (disorder)\Disorder of lysosomal enzyme\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 (body structure)	true	Inferred relationship	Some	1
Neutral lipid storage disease with myopathy (disorder)	Is a	Hereditary disorder of musculoskeletal system	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
7670971000172116	lipidose avec surcharge en triglycérides associée à une myopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7670981000172118	myopathie à surcharge lipidique multisystémique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7670991000172115	maladie de stockage des lipides neutres associée à une myopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5546571000172118	neutrale lipide stapelingsziekte met myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)