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1156591005: 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 Reference Sets
4575323013 Fatty acid oxidation defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4575324019 Fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4575325018 Fatty acid oxidation disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
4575326017 FAOD - fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

18 descendants. Search Descendants:

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 (disorder) 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
Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) 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
Autosomal recessive glutaric aciduria, type 2 Is a True Fatty acid oxidation defect (disorder) Inferred relationship Some

This concept is not in any reference sets

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