57119000: Hyperammonemia, type III (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Hyperammonaemia, type III

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperammonaemia, type III

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Hyperammonemia\Hyperammonaemia, type III
\trouble métabolique\Inborn error of metabolism\Hyperammonaemia, type III
\trouble métabolique\Enzymopathy\Hyperammonaemia, type III

\Congenital disease\Inborn error of metabolism\Hyperammonaemia, type III

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

1231687019 N-Acetylglutamate synthase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1231688012 NAGS - N-Acetylglutamate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

198715011 NAGS deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

497797019 Hyperammonaemia, type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

795706011 Hyperammonemia, type III (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

94990017 Hyperammonemia, type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

94991018 N-acetylglutamate synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

94992013 Amino acid acetyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

94993015 N-acetylglutamate transferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

94994014 AGA deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

94995010 Congenital AGA deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperammonaemia, type III	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Hyperammonaemia, type III	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hyperammonaemia, type III	est un(e) (attribut)	Hyperammonemia	true	Inferred relationship	Some
Hyperammonaemia, type III	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Hyperammonaemia, type III	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Hyperammonaemia, type III	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets