703527003: TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Metabolic disease\Disorder of pyrimidine metabolism\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3009143011	TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3009441017	TK2-related mitochondrial DNA depletion syndrome myopathic form	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3009465019	TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3009564018	Mitochondrial DNA depletion syndrome 2 myopathic type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3009664011	TK2-related mitochondrial DNA depletion myopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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