42393006: Methylmalonic acidemia (disorder)

SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\...

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

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

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

1229858012 MMA - Methylmalonic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (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
70730010 Methylmalonic acidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
70731014 Methylmalonic acidemia, NOS en Synonym (core metadata concept) Inactive Only initial character 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Methylmalonic acidaemia	est un(e) (attribut)	Acidemia	true	Inferred relationship	Some
Methylmalonic acidaemia	est un(e) (attribut)	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Some
Methylmalonic acidaemia	est un(e) (attribut)	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Methylmalonic acidaemia	est un(e) (attribut)	Disorder of propionate AND/OR methylmalonate metabolism	true	Inferred relationship	Some
Methylmalonic acidaemia	survenue (attribut)	congénital	false	Inferred relationship	Some
Methylmalonic acidaemia	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Methylmalonic aciduria due to transcobalamin receptor defect (disorder)	est un(e) (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)	est un(e) (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some
Methylmalonyl-CoA mutase deficiency	est un(e) (attribut)	False	Methylmalonic acidaemia	Inferred relationship	Some
Adenosylcobalamin and methylcobalamin synthesis defect	est un(e) (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some
Adenosylcobalamin synthesis defect	est un(e) (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some
Combined malonic and methylmalonic aciduria	est un(e) (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some
Family history of methylmalonic aciduria (situation)	constatation associée (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some	1
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	est un(e) (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	est un(e) (attribut)	True	Methylmalonic acidaemia	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)