42393006: methylmalonzuuracidemie (aandoening)

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

\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia
\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
\Disorder of organic acid metabolism\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

227831000146116 methylmalonzuuracidemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

227841000146112 methylmalonzuuracidemie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

227851000146110 MMA nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10790021000146117 methylmalonacidemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10790011000146110 MMA; erfelijke stofwisselingsaandoening waarbij er sprake van een defect in de omzetting van enzymen (het enzym methylmalonyl-CoA); daardoor hoopt methylmalonzuur zich op in het bloed, wat leidt tot neurologische afwijkingen en een ernstige ontregeling van de stofwisseling; ook een tekort aan vitamine B12 kan leiden tot een verhoogde waarde van methylmalonzuur in het bloed. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 co-occurrent with methylmalonic aciduria (disorder)	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Methylmalonic aciduria due to transcobalamin receptor defect (disorder)	Is a	True	Methylmalonic acidemia	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)	Is a	True	Methylmalonic acidemia	Inferred relationship	Some

This concept is not in any reference sets