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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Central nervous system finding\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\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 (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\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 is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\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 is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of head (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\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 (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Depletion of mitochondrial DNA\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\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 is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Fatal infantile lactic acidosis with methylmalonic aciduria
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.\Fatal infantile lactic acidosis with methylmalonic aciduria

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
5400824018	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400825017	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterised by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302269012	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
5400824018	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400825017	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterised by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3443871001000114	Fatale infantile Laktatazidose mit Methylmalonazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6207701000241111	concomitance d'une acidose lactique infantile fatale et d'une acidurie méthylmalonique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6207711000241113	acidose lactique infantile fatale concomitante d'une acidurie méthylmalonique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6207701000241111	concomitance d'une acidose lactique infantile fatale et d'une acidurie méthylmalonique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6207711000241113	acidose lactique infantile fatale concomitante d'une acidurie méthylmalonique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3443871001000114	Fatale infantile Laktatazidose mit Methylmalonazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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