4920001: deficiëntie van acetyl-co-enzym-A-carboxylase (aandoening)

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 (disorder)\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\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

7006261000146111 deficiëntie van acetyl-CoA-carboxylase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7006271000146117 acetyl-CoA-carboxylasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7011591000146112 acetyl-co-enzym-A-carboxylasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8678401000146118 deficiëntie van acetyl-co-enzym-A-carboxylase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8678411000146116 deficiëntie van acetyl-co-enzym-A-carboxylase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	Some
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	Enzymopathy	false	Inferred relationship	Some
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Reference Sets