124258007: deficiëntie van acetyl-co-enzym-A-acetyltransferase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\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\Deficiency of acetyl-CoA acetyltransferase

\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of acetyl-CoA acetyltransferase

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

203870018 Deficiency of acetoacetyl-CoA thiolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
203871019 Deficiency of acetyl-CoA acetyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
727817014 Deficiency of acetyl-CoA acetyltransferase (disorder) en Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
1220688012 Acetoacetyl-CoA thiolase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1784702014 3-Ketothiolase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2550674019 alpha-Methylacetoacetic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2550675018 3-Methylhydroxybutyric acidaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2550676017 3-Methylhydroxybutyric acidemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2971184013 Deficiency of acetyl-coenzyme A acetyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2971772018 Deficiency of acetyl-coenzyme A acetyltransferase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6869401000146115 acetyl-CoA-acetyltransferasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7063511000146116 acetylco-enzym-A-acetyltransferasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7149431000146110 tekort aan acetyl-CoA-acetyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8678791000146115 deficiëntie van acetyl-co-enzym-A-acetyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8678811000146119 deficiëntie van acetyl-co-enzym-A-acetyltransferase (aandoening) nl Fully specified name 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-CoA acetyltransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of acetyl-CoA acetyltransferase	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Deficiency of acetyl-CoA acetyltransferase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of acetyl-CoA acetyltransferase	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated	Is a	True	Deficiency of acetyl-CoA acetyltransferase	Inferred relationship	Some
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - non-potassium stimulated	Is a	True	Deficiency of acetyl-CoA acetyltransferase	Inferred relationship	Some
Cytosolic acetoacetyl-CoA thiolase deficiency	Is a	True	Deficiency of acetyl-CoA acetyltransferase	Inferred relationship	Some

Reference Sets