237953006: deficiëntie van kaliumgestimuleerd mitochondriaal 2-methylacetoacetylco-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\Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated

\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of acetyl-CoA acetyltransferase\Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated

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

356637013 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356638015 Beta-ketothiolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626762011 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

9129691000146116 deficiëntie van kaliumgestimuleerd mitochondriaal 2-methylacetoacetyl-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)

9129701000146116 tekort aan kaliumgestimuleerd mitochondriaal 2-methylacetoacetyl-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)

9129721000146112 bètaketothiolasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9129731000146114 BKT-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11216301000146113 deficiëntie van kaliumgestimuleerd mitochondriaal 2-methylacetoacetylco-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)

11216311000146110 deficiëntie van kaliumgestimuleerd mitochondriaal 2-methylacetoacetylco-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)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated	Is a	Deficiency of acetyl-CoA acetyltransferase	true	Inferred relationship	Some
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated	Occurrence	Congenital	false	Inferred relationship	Some
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets