725903003: Autosomal dominant myoglobinuria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Urine finding\Finding of urine substance level\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)
• \Urine finding\Abnormal urinary product\Autosomal dominant myoglobinuria (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of urine substance level\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)
• \Finding of substance level (finding)\Finding of protein level (finding)\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)
• \Detected by measurement\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)
• \Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant myoglobinuria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Lipid storage disease (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3446263014	Autosomal dominant myoglobinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446264015	Autosomal dominant myoglobinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403498019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403499010	A rare metabolic myopathy characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446263014	Autosomal dominant myoglobinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446264015	Autosomal dominant myoglobinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446265019	A rare metabolic myopathy with characteristics of 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403498019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403499010	A rare metabolic myopathy characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3409581001000116	Myoglobinurie, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
927361000172110	myoglobinurie autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
927361000172110	myoglobinurie autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3409581001000116	Myoglobinurie, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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