763688008: Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\...
• \Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Muscle finding\Disorder of muscle\...
• \Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Secondary myopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Disorder of nerve due to metabolic disease (disorder)\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of muscle\Secondary myopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643289014	Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643290017	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643291018	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404145015	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404146019	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterised by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactataemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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