69080001: Propionic acidemia (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Propionic acidaemia
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Propionic acidaemia
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Propionic acidaemia
• \Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Propionic acidaemia
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Propionic acidaemia
• \Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Propionic acidaemia
• \Metabolic disease\Enzymopathy\Propionic acidaemia
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Propionic acidaemia
• \Congenital disease\Inborn error of metabolism\Propionic acidaemia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
114737015	Propionic acidemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1788119013	Propionyl-CoA carboxylase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1788120019	PCC - Propionyl-CoA carboxylase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4553891013	Propionic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
501182014	Propionic acidaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
501184010	Ketotic glycinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
501185011	Ketotic hyperglycinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
501186012	Hyperglycinaemia with ketosis and leucopenia	en	Synonym	Active	Case insensitive	SNOMED CT core
501187015	Hyperglycinemia with ketosis and leukopenia	en	Synonym	Active	Case insensitive	SNOMED CT core
501188013	Ketotic glycinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
501189017	Ketotic hyperglycinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
808985015	Propionic acidemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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