783057002: DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\DNA2-related mitochondrial DNA deletion syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\DNA2-related mitochondrial DNA deletion syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\DNA2-related mitochondrial DNA deletion syndrome
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\DNA2-related mitochondrial DNA deletion syndrome
• \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\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\DNA2-related mitochondrial DNA deletion syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\DNA2-related mitochondrial DNA deletion syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757264011	Mitochondrial DNA deletion syndrome with limb-girdle weakness	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757265012	Mitochondrial DNA deletion syndrome with progressive myopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757266013	DNA2-related mitochondrial DNA deletion syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3777262014	DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3777263016	DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3757269018	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q.	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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