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57119000: Hyperammonemia, type III (disorder)

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
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
5286196016 NAGS-gene related hyperammonemia type III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5286197013 NAGS-gene related hyperammonaemia type III en Synonym (core metadata concept) Active Entire term case sensitive (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 Only initial character case insensitive (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 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
5286196016 NAGS-gene related hyperammonemia type III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5286197013 NAGS-gene related hyperammonaemia type III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435931001000116 Hyperammonämie durch N-Acetylglutamat-Synthetase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6260541000241119 hyperammoniémie de type III fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6260551000241116 déficit en NAGS (N-acétylglutamate synthase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6260561000241118 déficit en N-acétylglutamate synthase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6260541000241119 hyperammoniémie de type III fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6260551000241116 déficit en NAGS (N-acétylglutamate synthase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6260561000241118 déficit en N-acétylglutamate synthase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435931001000116 Hyperammonämie durch N-Acetylglutamat-Synthetase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperammonemia, type III Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperammonemia, type III Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperammonemia, type III Is a Hyperammonemia true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperammonemia, type III Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hyperammonemia, type III Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hyperammonemia, type III Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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