4920001: Deficiency of acetyl-coenzyme A carboxylase (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of acetyl-coenzyme A carboxylase (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Deficiency of acetyl-coenzyme A carboxylase (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of acetyl-coenzyme A carboxylase (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Deficiency of acetyl-coenzyme A carboxylase (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of acetyl-coenzyme A carboxylase (disorder)

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

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

4697249014 Deficiency of acetyl-coenzyme A carboxylase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4697250014 Acetyl-CoA carboxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4697251013 Deficiency of acetyl-coenzyme A carboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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

4697249014 Deficiency of acetyl-coenzyme A carboxylase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4697250014 Acetyl-CoA carboxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4697251013 Deficiency of acetyl-coenzyme A carboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4404811000241118 déficit en acétyl-CoA carboxylase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4404811000241118 déficit en acétyl-CoA carboxylase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets