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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
43754011 Metabolic myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
953011000172115 myopathie d'origine métabolique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

81 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic myopathy (disorder) Is a Myopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metabolic myopathy (disorder) Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Amyloid myopathy Is a False Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lipid storage myopathy Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial cytopathy (disorder) Is a False Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial periodic paralysis Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chronic myopathy with hypocalcemia and hypophosphatemia Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a False Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nutritional myopathy Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile myopathy AND lactate acidosis Is a False Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Endocrine myopathy Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder) Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
[X]Myopathy in metabolic diseases classified elsewhere Is a False Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Luft's hypermetabolic myopathy Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, muscular form Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Porcine stress syndrome Is a False Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy (disorder) Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy co-occurrent and due to hypercalcemia Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic myopathy due to lactate transporter defect (disorder) Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Is a True Metabolic myopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare glycogen storage disease characterised by slowly progressive myopathy with storage of polyglucosan in muscle fibres. 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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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