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26111005: Metabolic myopathy (disorder)

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
43754011 Metabolic myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756506012 Metabolic myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1224974015 Myopathy in metabolic diseases en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
953011000172115 myopathie d'origine métabolique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2397651000195112 Metabolische Myopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2397661000195110 Myopathie bei Stoffwechselkrankheiten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

82 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic myopathy Is a Myopathy false Inferred relationship Some
Metabolic myopathy Finding site Skeletal muscle structure true Inferred relationship Some 1
Metabolic myopathy Is a Disorder of skeletal muscle true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Amyloid myopathy Is a False Metabolic myopathy Inferred relationship Some
Lipid storage myopathy Is a True Metabolic myopathy Inferred relationship Some
Mitochondrial cytopathy Is a False Metabolic myopathy Inferred relationship Some
Familial periodic paralysis Is a True Metabolic myopathy Inferred relationship Some
Chronic myopathy with hypocalcaemia and hypophosphataemia Is a True Metabolic myopathy Inferred relationship Some
Glycogen storage disease Is a False Metabolic myopathy Inferred relationship Some
Nutritional myopathy Is a True Metabolic myopathy Inferred relationship Some
Juvenile myopathy AND lactate acidosis Is a False Metabolic myopathy Inferred relationship Some
Endocrine myopathy Is a True Metabolic myopathy Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Metabolic myopathy Inferred relationship Some
[X]Myopathy in metabolic diseases classified elsewhere Is a False Metabolic myopathy Inferred relationship Some
Luft's hypermetabolic myopathy Is a True Metabolic myopathy Inferred relationship Some
Glycogen storage disease, muscular form Is a True Metabolic myopathy Inferred relationship Some
Porcine stress syndrome Is a False Metabolic myopathy Inferred relationship Some
Mitochondrial myopathy Is a True Metabolic myopathy Inferred relationship Some
Myopathy co-occurrent and due to hypercalcemia (disorder) Is a True Metabolic myopathy Inferred relationship Some
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. Is a True Metabolic myopathy Inferred relationship Some
Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. Is a True Metabolic myopathy Inferred relationship Some
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Is a True Metabolic myopathy Inferred relationship Some
A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. Is a True Metabolic myopathy Inferred relationship Some

This concept is not in any reference sets

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