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69080001: Propionic acidemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Propionic acidemia

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Propionic acidemia

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Propionic acidemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Propionic acidemia
\Metabolic disease\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
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Propionic acidemia
\Metabolic disease\Enzymopathy\Propionic acidemia
\Metabolic disease\Disorder of acid-base balance\Acidemia\Propionic acidemia

\Congenital disease (disorder)\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Propionic acidemia	Is a	Acidemia	true	Inferred relationship	Some
Propionic acidemia	Is a	Disorder of propionate AND/OR methylmalonate metabolism	true	Inferred relationship	Some
Propionic acidemia	Is a	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Some
Propionic acidemia	Finding site	Body system structure	false	Inferred relationship	Some
Propionic acidemia	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Propionic acidemia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Propionic acidemia	Is a	Enzymopathy	true	Inferred relationship	Some
Propionic acidemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Propionic acidemia	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
biotinligasberoende brist på propionyl-CoA-karboxylas	Is a	False	Propionic acidemia	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency	Is a	False	Propionic acidemia	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency pccA complementation group	Is a	True	Propionic acidemia	Inferred relationship	Some
Propionyl-coenzyme A carboxylase deficiency pccBC complementation group (disorder)	Is a	True	Propionic acidemia	Inferred relationship	Some
Propionic acidemia, type I (disorder)	Is a	True	Propionic acidemia	Inferred relationship	Some
Propionic acidemia, type II (disorder)	Is a	True	Propionic acidemia	Inferred relationship	Some

This concept is not in any reference sets

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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
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
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
915881000052118	brist på propionyl-CoA-karboxylas	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
3723891000052112	propionsyreemi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)