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82319005: Acyl-coenzyme A dehydrogenase deficiency (disorder)

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
136544017 Acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2478870019 Deficiency of acyl-CoA dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2971050011 Acyl-coenzyme A dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2971966010 Acyl-coenzyme A dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4658811000241115 déficit en acyl-CoA déshydrogénase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387231001000117 Acyl-CoA-Dehydrogenase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acyl-CoA dehydrogenase deficiency Is a Enzymopathy true Inferred relationship Some
Acyl-CoA dehydrogenase deficiency Is a Disorder of fatty acid metabolism false Inferred relationship Some
Acyl-CoA dehydrogenase deficiency Occurrence Congenital true Inferred relationship Some 1
Acyl-CoA dehydrogenase deficiency Finding site Body system structure false Inferred relationship Some
Acyl-CoA dehydrogenase deficiency Is a Fatty acid oxidation defect (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Long chain acyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Some
Very long chain acyl-CoA dehydrogenase deficiency Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Some
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Some
Medium-chain acyl-coenzyme A dehydrogenase deficiency Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Some
A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain. Due to True Acyl-CoA dehydrogenase deficiency Inferred relationship Some 2
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Some
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Some

This concept is not in any reference sets

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