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1156591005: Fatty acid oxidation defect (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4575323013 Fatty acid oxidation defect (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4575324019 Fatty acid oxidation defect en Synonym Active Entire term case insensitive SNOMED CT core module
4575325018 Fatty acid oxidation disorder en Synonym Active Entire term case insensitive SNOMED CT core module
4575326017 FAOD - fatty acid oxidation defect en Synonym Active Entire term case sensitive SNOMED CT core module

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 Existential restriction modifier
Fatty acid oxidation defect Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Fatty acid oxidation defect Is a Disorder of fatty acid metabolism true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Acyl-coenzyme A dehydrogenase deficiency Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Renal carnitine transport defect Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Mitochondrial trifunctional protein deficiency Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Carnitine palmitoyltransferase I deficiency Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Carnitine palmitoyltransferase II deficiency Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Carnitine acylcarnitine translocase deficiency Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Fatty acid oxidation defect Inferred relationship Existential restriction modifier
Autosomal recessive glutaric aciduria, type 2 Is a False Fatty acid oxidation defect Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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