715338007: Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \affection de la tête\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\trouble métabolique\Disorder of organic acid metabolism\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 co-occurrent with methylmalonic aciduria (disorder)
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidaemia\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\trouble métabolique\Disorder of acid-base balance\Acidemia\Methylmalonic acidaemia\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302270013	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302271012	Fatal infantile lactic acidosis with methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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