766251006: Lethal infantile mitochondrial myopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Lethal infantile mitochondrial myopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Lethal infantile mitochondrial myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Lethal infantile mitochondrial myopathy
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Lethal infantile mitochondrial myopathy
• \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\Lethal infantile mitochondrial myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal infantile mitochondrial myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal infantile mitochondrial myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal infantile mitochondrial myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Lethal infantile mitochondrial myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Lethal infantile mitochondrial myopathy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Lethal infantile mitochondrial myopathy
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Lethal infantile mitochondrial myopathy
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Lethal infantile mitochondrial myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Lethal infantile mitochondrial myopathy

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3661250017	Lethal infantile mitochondrial myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3661251018	Lethal infantile mitochondrial myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3661252013	Lethal infantile mitochondrial disease	en	Synonym	Active	Case insensitive	SNOMED CT core
3661253015	A rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core
3661254014	A rare mitochondrial oxidative phosphorylation disorder characterised by progressive generalised hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	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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