1156591005: stoornis van vetzuuroxidatie (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)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4575323013 Fatty acid oxidation defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575324019 Fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575325018 Fatty acid oxidation disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575326017 FAOD - fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
12898131000146111 vetzuuroxidatiestoornis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12967351000146110 vetzuuroxidatiedefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12988081000146117 stoornis van vetzuuroxidatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12988091000146115 stoornis van vetzuuroxidatie (aandoening) nl Fully specified name Active Entire term 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
Fatty acid oxidation defect (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fatty acid oxidation defect (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Fatty acid oxidation defect (disorder)	Is a	Disorder of fatty acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acyl-CoA dehydrogenase deficiency	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
Renal carnitine transport defect	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
deficiëntie van 3-hydroxyacyl-co-enzym-A-dehydrogenase (aandoening)	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
Mitochondrial trifunctional protein deficiency	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
Carnitine palmitoyltransferase I deficiency	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
Carnitine palmitoyltransferase II deficiency	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
Carnitine acylcarnitine translocase deficiency	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	True	Fatty acid oxidation defect (disorder)	Inferred relationship	Some
autosomaal recessieve glutaaracidurie type II	Is a	False	Fatty acid oxidation defect (disorder)	Inferred relationship	Some

This concept is not in any reference sets