765403009: F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (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\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \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\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3658351012	Mitochondrial DNA depletion syndrome 13 encephalomyopathic type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3658352017	FBXL4-related early onset mitochondrial encephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3658353010	FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3658354016	FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3658355015	F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3658356019	F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	en	Synonym	Active	Case sensitive	SNOMED CT core
3658357011	A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern.	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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