4920001: Acetyl-CoA: carboxylase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Inborn error of metabolism\Acetyl-CoA: carboxylase deficiency

\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Acetyl-CoA: carboxylase deficiency
\Metabolic disease\Inborn error of metabolism\Acetyl-CoA: carboxylase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Acetyl-CoA: carboxylase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Acetyl-CoA: carboxylase deficiency

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

9212012 Acetyl-CoA: carboxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

9213019 ACC deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

786853014 Acetyl-CoA: carboxylase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2478728017 Deficiency of acetyl-CoA carboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

828041000052113 brist på acetyl-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)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acetyl-CoA: carboxylase deficiency	Is a	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Some
Acetyl-CoA: carboxylase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Acetyl-CoA: carboxylase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Acetyl-CoA: carboxylase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Acetyl-CoA: carboxylase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Acetyl-CoA: carboxylase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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Reference Sets