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1156591005: Fatty acid oxidation defect (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
4575324019 Fatty acid oxidation defect en Synonym Active Case insensitive SNOMED CT core
4575325018 Fatty acid oxidation disorder en Synonym Active Case insensitive SNOMED CT core
4575326017 FAOD - fatty acid oxidation defect en Synonym Active Case sensitive SNOMED CT core


21 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fatty acid oxidation defect Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Fatty acid oxidation defect Occurrence Congenital true Inferred relationship Some 1
Fatty acid oxidation defect 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 Inferred relationship Some
Renal carnitine transport defect Is a True Fatty acid oxidation defect Inferred relationship Some
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Is a True Fatty acid oxidation defect Inferred relationship Some
Mitochondrial trifunctional protein deficiency Is a True Fatty acid oxidation defect Inferred relationship Some
Carnitine palmitoyltransferase I deficiency Is a True Fatty acid oxidation defect Inferred relationship Some
Carnitine palmitoyltransferase II deficiency Is a True Fatty acid oxidation defect Inferred relationship Some
Carnitine acylcarnitine translocase deficiency Is a True Fatty acid oxidation defect Inferred relationship Some
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Is a True Fatty acid oxidation defect Inferred relationship Some
Autosomal recessive glutaric aciduria, type 2 Is a False Fatty acid oxidation defect Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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