715338007: Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (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\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \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\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \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\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \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\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \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\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidaemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Methylmalonic acidaemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidaemia\Methylmalonic acidaemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \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\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial DNA depletion syndrome encephalomyopathic form\Fatal infantile lactic acidosis with methylmalonic aciduria

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302269012	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302270013	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
3302271012	Fatal infantile lactic acidosis with methylmalonic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
3302272017	Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilization induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency.	en	Definition	Active	Case sensitive	SNOMED CT core
3302273010	Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilisation induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnoea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency.	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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