303094000: deficiëntie van propionyl-co-enzym-A-carboxylase complementatiegroep pccA (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group
\Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group
\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\Propionyl-CoA carboxylase deficiency pccA complementation group
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group
\Metabolic disease\Enzymopathy\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group
\Metabolic disease\Disorder of acid-base balance\Acidemia\Propionic acidemia\Propionyl-CoA carboxylase deficiency pccA complementation group

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
Propionyl-CoA carboxylase deficiency pccA complementation group	Is a	Propionyl-CoA carboxylase deficiency	false	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency pccA complementation group	Is a	Propionyl-CoA carboxylase deficiency	false	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency pccA complementation group	Occurrence	Congenital	true	Inferred relationship	Some	1
Propionyl-CoA carboxylase deficiency pccA complementation group	Finding site	Leucocyte	false	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency pccA complementation group	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency pccA complementation group	Finding site	Body system structure	false	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency pccA complementation group	Is a	Propionic acidemia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
445169018	Propionyl-CoA carboxylase deficiency pccA complementation group	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
699271014	Propionyl-CoA carboxylase deficiency pccA complementation group (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971280014	Propionyl-coenzyme A carboxylase deficiency pccA complementation group (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971976013	Propionyl-coenzyme A carboxylase deficiency pccA complementation group	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5314972016	PCCA-gene related propionyl-coenzyme A carboxylase deficiency pccA complementation group	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
567491000146119	propionyl-CoA-carboxylasedeficiëntie complementgroep pccA (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
567511000146114	propionyl-CoA-carboxylasedeficiëntie complementgroep pccA	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9804811000146111	deficiëntie van propionyl-CoA-carboxylase complementgroep pccA	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9928411000146119	deficiëntie van propionyl-co-enzym-A-carboxylase complementgroep pccA (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9928421000146112	deficiëntie van propionyl-co-enzym-A-carboxylase complementgroep pccA	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14402841000146114	deficiëntie van propionyl-co-enzym-A-carboxylase complementatiegroep pccA	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14402851000146112	deficiëntie van propionyl-co-enzym-A-carboxylase complementatiegroep pccA (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)