1236807002: Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Central nervous system finding\Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Metabolic disease\Mitochondrial cytopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Metabolic disease\Metabolic encephalopathy\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Encephalopathy due to mitochondrial and peroxisomal fission defect
• \Disease\Developmental disorder\Developmental hereditary disorder\Encephalopathy due to mitochondrial and peroxisomal fission defect

Status: current, Primitive. Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5089130010	Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5089131014	Encephalopathy due to mitochondrial and peroxisomal fission defect	en	Synonym	Active	Case insensitive	SNOMED CT core
5089129017	A rare mitochondrial disease with characteristics of a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy among others. Age of onset and disease severity is also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy and white matter abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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