303094000: Propionyl-coenzyme A carboxylase deficiency pccA complementation group (disorder)

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

\Genetic disease\Hereditary 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

\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\Inborn error of metabolism\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

\Congenital disease (disorder)\Inborn error of metabolism\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:

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

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

844171000052112 propionyl-CoA-karboxylasbrist, komplementeringsgrupp pccA sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Leukocyte	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