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 DNA depletion syndrome myopathic form
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA 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 DNA 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 DNA 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 DNA depletion syndrome myopathic form
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disease\Metabolic disease\Disorder of pyrimidine metabolism\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA depletion syndrome myopathic form
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form\TK2-related mitochondrial DNA 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 DNA depletion syndrome myopathic form

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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