42393006: Methylmalonic acidemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Disorder of organic acid metabolism (disorder)\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia
\Disorder of 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 acidemia
\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia

\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

70730010 Methylmalonic acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493300012 Methylmalonic acidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

779287015 Methylmalonic acidemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1229858012 MMA - Methylmalonic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4528201000241113 acidémie due au méthylmalone fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Methylmalonic acidemia	Is a	Acidemia	true	Inferred relationship	Some
Methylmalonic acidemia	Is a	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Some
Methylmalonic acidemia	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Methylmalonic acidemia	Is a	Disorder of propionate AND/OR methylmalonate metabolism	true	Inferred relationship	Some
Methylmalonic acidemia	Occurrence	Congenital	false	Inferred relationship	Some
Methylmalonic acidemia	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Methylmalonyl-CoA mutase deficiency	Is a	False	Methylmalonic acidemia	Inferred relationship	Some
Adenosylcobalamin and methylcobalamin synthesis defect	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Adenosylcobalamin synthesis defect	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Combined malonic and methylmalonic aciduria	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Family history of methylmalonic aciduria (situation)	Associated finding	True	Methylmalonic acidemia	Inferred relationship	Some	1
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.	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.	Is a	True	Methylmalonic acidemia	Inferred relationship	Some

This concept is not in any reference sets