128596003: Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
\Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Medium-chain acyl-coenzyme A dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Is a	Acyl-CoA dehydrogenase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Suspected medium-chain acyl-coenzyme A dehydrogenase deficiency (situation)	Associated finding	False	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Medium-chain acyl-coenzyme A dehydrogenase deficiency not suspected	Associated finding	False	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Suspected medium-chain acyl-coenzyme A dehydrogenase deficiency (situation)	Associated finding	True	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Medium-chain acyl-coenzyme A dehydrogenase deficiency not suspected	Associated finding	True	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
206973010	MCAD deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
206974016	Medium-chain acyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
474498010	MCAD - Medium chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
474499019	Medium chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
732608012	Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
206973010	MCAD deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
206974016	Medium-chain acyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
474498010	MCAD - Medium chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
474499019	Medium chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
732608012	Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3390721001000111	Mittelketten-Acyl-CoA-Dehydrogenase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4789161000241116	déficit en acylcoenzyme A déshydrogénase des acides gras à chaine moyenne	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4789161000241116	déficit en acylcoenzyme A déshydrogénase des acides gras à chaine moyenne	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390721001000111	Mittelketten-Acyl-CoA-Dehydrogenase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module