766715000: Metabolic myopathy due to lactate transporter defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disorder of skeletal muscle\Metabolic myopathy\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5404625012	Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404626013	Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterised by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662367011	Metabolic myopathy due to lactate transporter defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662368018	Metabolic myopathy due to lactate transporter defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662369014	Erythrocyte lactate transporter defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
878701000172116	myopathie métabolique par défaut de transport du lactate	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
908441000172114	anomalie du transporteur de lactate de l'érythrocyte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430831001000115	Myopathie, metabolische, durch Laktat-Transporter-Defekt	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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