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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
136544017 Acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
823716014 Acyl-CoA dehydrogenase deficiency (disorder) en Fully specified name 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
3387231001000117 Acyl-CoA-Dehydrogenase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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 Existential restriction modifier (core metadata concept)
Acyl-CoA dehydrogenase deficiency Is a Disorder of fatty acid metabolism (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Acyl-CoA dehydrogenase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acyl-CoA dehydrogenase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Acyl-CoA dehydrogenase deficiency Is a Fatty acid oxidation defect (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Medium-chain acyl-coenzyme A dehydrogenase deficiency Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder characterised 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 Existential restriction modifier (core metadata concept) 2
A very rare inborn error of mitochondrial fatty acid oxidation with characteristics of variable manifestations ranging from asymptomatic individuals to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. In affected individuals manifestations include seizures, developmental delay (delayed sitting/walking and/or speech/social interaction), failure to grow with poor feeding and usually muscle weakness and hypotonia. Caused by mutations in the acyl-CoA dehydrogenase, C-2 to C-3 short chain ACADS gene (12q24.31) along with additional as yet unidentified precipitating factors. Inherited in an autosomal recessive manner. Is a True Acyl-CoA dehydrogenase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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