237955004: deficiëntie van cytosolisch acetoacetylco-enzym A-thiolase (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\Cytosolic acetoacetyl-CoA thiolase deficiency

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

356640013 Cytosolic acetoacetyl-CoA thiolase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970928015 Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2972066010 Cytosolic acetoacetyl-coenzyme A thiolase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6834671000146119 cytosolisch-acetoacetyl-CoA-thiolasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11228871000146117 deficiëntie van cytosolisch acetoacetylco-enzym A-thiolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11228881000146115 deficiëntie van cytosolisch acetoacetyl-CoA-thiolase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12764271000146113 deficiëntie van cytosolisch acetoacetylco-enzym A-thiolase (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
Cytosolic acetoacetyl-CoA thiolase deficiency	Is a	Deficiency of acetyl-CoA acetyltransferase	true	Inferred relationship	Some
Cytosolic acetoacetyl-CoA thiolase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Cytosolic acetoacetyl-CoA thiolase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Characteristic

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Group

This concept is not in any reference sets