778029000: FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\FAST kinase domains 2-related infantile mitochondrial encephalomyopathy

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737331019	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3737332014	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3737333016	FASTKD2-related infantile mitochondrial encephalomyopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3737334010	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.	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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