733599009: Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \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\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \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\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499652018	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499653011	Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3499655016	Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3780962010	Adult-onset multiple mitochondrial DNA (deoxyribonucleic acid) deletion syndrome due to DGUOK (deoxyguanosine kinase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4352601000168117	Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3500031013	An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle. The disease has a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.	en	Definition	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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