80887004: Inherited methylmalonic acidemia AND homocystinuria (disorder)

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

\Genetic disease\maladie héréditaire\Inherited methylmalonic acidemia AND homocystinuria

\trouble métabolique\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidemia AND homocystinuria
\trouble métabolique\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 and methylcobalamin synthesis defect\Inherited methylmalonic acidemia AND homocystinuria
\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Homocystinuria\Inherited methylmalonic acidemia AND homocystinuria
\trouble métabolique\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidaemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidemia AND homocystinuria
\trouble métabolique\Disorder of acid-base balance\Acidemia\Methylmalonic acidaemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidemia AND homocystinuria

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

134168018 Inherited methylmalonic acidemia AND homocystinuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

504532010 CblF - Cobalamin locus F variant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

504533017 Cobalamin locus F variant en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

504534011 CblF methylmalonic acidemia and homocystinuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

504535012 Inherited methylmalonic acidaemia AND homocystinuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

504536013 CblF methylmalonic acidaemia and homocystinuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

822096011 Inherited methylmalonic acidemia AND homocystinuria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited methylmalonic acidemia AND homocystinuria	est un(e) (attribut)	maladie héréditaire	true	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	est un(e) (attribut)	Adenosylcobalamin and methylcobalamin synthesis defect	true	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	est un(e) (attribut)	Homocystinuria	true	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	survenue (attribut)	congénital	false	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)