57119000: Hyperammonemia, type III (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Hyperammonemia, type III

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hyperammonemia, type III
\Metabolic disease\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\Hyperammonemia, type III
\Metabolic disease\Enzymopathy\Hyperammonemia, type III

\Congenital disease (disorder)\Inborn error of metabolism\Hyperammonemia, 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

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

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

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

12720411000172113 hyperammoniémie de type III fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12720421000172115 déficit en NAGS (N-acétylglutamate synthase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12720431000172117 déficit en N-acétylglutamate synthase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5082791000172115 hyperammoniëmie door N-acetylglutamatesynthasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5082801000172119 hyperammoniëmie door NAGS-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5082811000172116 hyperammoniëmie type III nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperammonemia, type III	Is a	Enzymopathy	true	Inferred relationship	Some
Hyperammonemia, type III	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hyperammonemia, type III	Is a	Hyperammonemia	true	Inferred relationship	Some
Hyperammonemia, type III	Occurrence	Congenital	true	Inferred relationship	Some	1
Hyperammonemia, type III	Finding site	Body system structure	false	Inferred relationship	Some
Hyperammonemia, type III	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets