1231309005: Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5072179010	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072180013	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400200015	A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400201016	A rare mitochondrial DNA depletion syndrome characterised by muscle weakness, and progressive, generalised hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5072179010	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072180013	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072184016	A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400200015	A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400201016	A rare mitochondrial DNA depletion syndrome characterised by muscle weakness, and progressive, generalised hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442151001000118	Mitochondriales DNA-Depletionssyndrom, myopathische Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442151001000118	Mitochondriales DNA-Depletionssyndrom, myopathische Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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