69614003: Adenosylcobalamin synthesis defect (disorder)

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

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

\Disorder of acid-base balance\Acidemia\Methylmalonic acidaemia\Adenosylcobalamin synthesis defect

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

115650017 Adenosylcobalamin synthesis defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

115652013 Methylmalonic aciduria, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1216875018 Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1216877014 Vitamin B12-responsive methylmalonic acidaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1218362019 Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1218363012 Vitamin B12-responsive methylmalonic acidemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

809579010 Adenosylcobalamin synthesis defect (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
Adenosylcobalamin synthesis defect	est un(e) (attribut)	Methylmalonic acidaemia	true	Inferred relationship	Some
Adenosylcobalamin synthesis defect	survenue (attribut)	congénital	false	Inferred relationship	Some
Adenosylcobalamin synthesis defect	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cobalamin A disease	est un(e) (attribut)	True	Adenosylcobalamin synthesis defect	Inferred relationship	Some
Cobalamin B disease	est un(e) (attribut)	True	Adenosylcobalamin synthesis defect	Inferred relationship	Some

This concept is not in any reference sets