159421000146109: ernstige neonatale vorm van glutaaracidurie type 2 (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Glutaric aciduria\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Glutaric aciduria\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Glutaric aciduria, type 2\Severe neonatal type of glutaric aciduria type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe neonatal type of glutaric aciduria type 2	Due to	Acyl-CoA dehydrogenase deficiency	true	Inferred relationship	Some	1
Severe neonatal type of glutaric aciduria type 2	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe neonatal type of glutaric aciduria type 2	Is a	Glutaric aciduria, type 2	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
13224971000146110	Severe neonatal type of glutaric aciduria type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13224981000146112	Severe neonatal type of glutaric aciduria type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13224991000146114	Severe neonatal type of multiple acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13225001000146115	Severe neonatal type of glutaric aciduria type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13225011000146118	Severe neonatal type of MADD	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13238111000146114	ernstige neonatale vorm van 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)
13238121000146116	ernstige neonatale vorm van MADD	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13238131000146119	ernstige neonatale vorm van 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)
13238141000146110	ernstige neonatale vorm van 'multiple acyl-CoA dehydrogenase'-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13238151000146113	ernstige neonatale vorm van 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)