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

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)

\Central nervous system finding\Finding of brain\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)
\Central nervous system finding\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)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\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)

\Disorder of head (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)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\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\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)

\Disorder of skeletal muscle\Metabolic myopathy\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\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic 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\Genetic disease\Hereditary disease\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\Hereditary disease\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\Hereditary disease\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\Disorder of body system\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\Disorder of body system\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\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder of musculoskeletal 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\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Disorder of head (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\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Metabolic disease\Hereditary metabolic 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\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Metabolic disease\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 acidemia\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
\Disease\Congenital disease (disorder)\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\Disorder of skeletal muscle\Metabolic myopathy\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

3852851000052110 dödlig infantil laktacidos med metylmalonisk aciduri sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Is a	Methylmalonic acidemia	true	Inferred relationship	Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Is a	Depletion of mitochondrial DNA	false	Inferred relationship	Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Is a	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	true	Inferred relationship	Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
3852851000052110	dödlig infantil laktacidos med metylmalonisk aciduri	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)