723552005: Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of neonate\Neonatal disorder\Neonatal metabolic disorder\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal metabolic disorder\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Metabolic disease\Neonatal metabolic disorder\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Metabolic disease\Acute metabolic disorder\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-CoA dehydrogenase deficiency
• \Disease\Acute disease\Acute metabolic disorder\Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3425073016	Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3425074010	Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425075011	Transient neonatal multiple acyl-CoA dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425076012	Transient neonatal glutaric acidemia type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3425077015	Transient neonatal glutaric acidaemia type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3425078013	Transient neonatal glutaric aciduria type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3425079017	Transient neonatal MAD (multiple acyl-coenzyme A dehydrogenase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425080019	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.	en	Definition	Active	Case sensitive	SNOMED CT core
3425081015	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 hypoglycaemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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