240095001: Lipid storage 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

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

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy

\Disease\Fetal and/or neonatal disorder\Congenital disease\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Lipid storage myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

359705015 Lipid storage myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629192012 Lipid storage myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7266931000241115 myopathie due à une maladie de surcharge lipidique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7266941000241113 myopathie due à une anomalie du stockage lipidique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lipid storage myopathy	Is a	Metabolic myopathy	true	Inferred relationship	Some
Lipid storage myopathy	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Lipid storage myopathy	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Lipid storage myopathy	Is a	Lipid storage disease	true	Inferred relationship	Some
Lipid storage myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Lipid storage myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neutral lipid storage disease with myopathy (disorder)	Is a	True	Lipid storage myopathy	Inferred relationship	Some
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	Is a	True	Lipid storage myopathy	Inferred relationship	Some
A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	Is a	True	Lipid storage myopathy	Inferred relationship	Some

This concept is not in any reference sets