69080001: Propionic acidemia (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\Propionic acidemia
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Propionic acidemia
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Propionic acidemia
• \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\Propionic acidemia
• \trouble métabolique\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Propionic acidemia
• \trouble métabolique\Inborn error of metabolism\Propionic acidemia
• \trouble métabolique\Enzymopathy\Propionic acidemia
• \trouble métabolique\Disorder of acid-base balance\Acidemia\Propionic acidemia
• \Congenital disease\Inborn error of metabolism\Propionic 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
114737015	Propionic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1788119013	Propionyl-CoA carboxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1788120019	PCC - Propionyl-CoA carboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4553891013	Propionic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
457951000241117	acidémie propionique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
501182014	Propionic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501184010	Ketotic glycinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501185011	Ketotic hyperglycinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501186012	Hyperglycinaemia with ketosis and leucopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501187015	Hyperglycinemia with ketosis and leukopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501188013	Ketotic glycinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501189017	Ketotic hyperglycinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
808985015	Propionic acidemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
954371000172114	acidémie propionique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
971191000172113	acidurie propionique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

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)

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