725903003: myoglobinurie autosomique dominante (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Contents of urine - finding\Abnormal urinary product\Myoglobinuria (finding)\Autosomal dominant myoglobinuria (disorder)
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Finding of presence of substance\Myoglobinuria (finding)\Autosomal dominant myoglobinuria (disorder)
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Finding of urine substance level\Myoglobinuria (finding)\Autosomal dominant myoglobinuria (disorder)
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Myoglobinuria (finding)\Autosomal dominant myoglobinuria (disorder)
• \Urine finding\Contents of urine - finding\Abnormal urinary product\Myoglobinuria (finding)\Autosomal dominant myoglobinuria (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant myoglobinuria (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\maladie de surchage lipidique\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\maladie de surchage lipidique\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\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
761781000241119	myoglobinurie autosomique dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
927361000172110	myoglobinurie autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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