124122005: deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)

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

203527011 Deficiency of beta-keto-reductase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203528018 Deficiency of beta-hydroxyacyl dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203529014 Deficiency of 3-hydroxyacyl-CoA dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727608012 Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

8199981000146115 deficiëntie van 3-hydroxyacyl-CoA-dehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8636461000146117 deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9468701000146116 deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase 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
deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)	Finding site	Body system structure	false	Inferred relationship	Some
deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Some
deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets