69080001: propionacidurie (aandoening)

\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

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
holocarboxylase-synthetasedeficiëntie	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
114738013	Propionic acidemia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501179016	Propionic acidemia, type I AND/OR type II	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501180018	Ketotic glycinemia, types I AND/OR II	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501181019	Ketotic glycinaemia, types I AND/OR II	en	Synonym (core metadata concept)	Inactive	Only initial character 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
501183016	Propionic acidaemia, type I AND/OR type II	en	Synonym (core metadata concept)	Inactive	Only initial character 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
1783835018	Ketotic glycinaemia, types I and II	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783836017	Hyperglycinaemia with ketosis AND leucopenia, types I AND/OR II	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783837014	Hyperglycinaemia with ketosis and leucopenia, types I and II	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784223019	Ketotic glycinemia, types I and II	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784224013	Hyperglycinemia with ketosis and leukopenia, types I and II	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784225014	Hyperglycinemia with ketosis AND leukopenia, types I AND/OR II	en	Synonym (core metadata concept)	Inactive	Only initial character 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
355691000146118	propionacidurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
355701000146118	propionacidurie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)