723552005: passagère neonatale glutaaracidurie type 2 (aandoening)

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

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal transient metabolic disturbance (disorder)\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal transient metabolic disturbance (disorder)\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal transient metabolic disturbance (disorder)\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Metabolic disease\Acute metabolic disorder\Neonatal transient metabolic disturbance (disorder)\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
\Disease\Acute disease\Acute metabolic disorder\Neonatal transient metabolic disturbance (disorder)\Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	Glutaric aciduria, type 2	false	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	Neonatal disorder	false	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	Acute metabolic disorder	false	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	1
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Clinical course	Transitory	true	Inferred relationship	Some	2
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	Neonatal metabolic disorder (disorder)	false	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	Acyl-CoA dehydrogenase deficiency	true	Inferred relationship	Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	Neonatal transient metabolic disturbance (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3425073016	Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3425074010	Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3425075011	Transient neonatal multiple acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3425076012	Transient neonatal glutaric acidemia type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425077015	Transient neonatal glutaric acidaemia type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425078013	Transient neonatal glutaric aciduria type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425079017	Transient neonatal MAD (multiple acyl-coenzyme A dehydrogenase) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6070871000146110	transiënte neonatale multipele acyl-co-enzym-A-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7098081000146113	passagère neonatale multipele acyl-co-enzym-A-dehydrogenasedeficiëntie (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7098091000146110	passagère neonatale multipele acyl-co-enzym-A-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7098101000146115	passagère neonatale deficiëntie van multipele acyl-co-enzym-A-dehydrogenase	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7098111000146118	passagère neonatale multipele acyl-CoA-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7098121000146111	passagère neonatale MADD	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7098131000146113	neonatale vorm van passagère multipele acyl-co-enzym-A-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9805041000146116	transiënte neonatale multipele acyl-CoA-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9928601000146118	passagère neonatale multipele deficiëntie van acyl-co-enzym-A-dehydrogenase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9928611000146116	passagère neonatale multipele deficiëntie van acyl-co-enzym-A-dehydrogenase (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13354561000146119	passagère neonatale glutaaracidurie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13354571000146113	passagère neonatale glutaaracidurie type 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core