276426004: Ornithine oxo-acid aminotransferase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\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\trouble du métabolisme de l'ornithine\Ornithine aminotransferase deficiency

\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Ornithine aminotransferase deficiency

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

2476096010 Deficiency of ornithine-oxo-acid aminotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2669599018 Ornithine oxo-acid aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412550019 Ornithine aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412551015 Ornithine ketoacid transaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412552010 OKT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

412553017 Ornithine-oxo-acid amino acid transferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412554011 Ornithine-delta-aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

412555012 OAT - Ornithine oxo-acid aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

412556013 OAT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

669339011 Ornithine oxo-acid aminotransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ornithine aminotransferase deficiency	est un(e) (attribut)	Deficiency of transferase	true	Inferred relationship	Some
Ornithine aminotransferase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
Ornithine aminotransferase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Ornithine aminotransferase deficiency	est un(e) (attribut)	trouble du métabolisme de l'ornithine	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ornithinemia with gyrate atrophy	est un(e) (attribut)	False	Ornithine aminotransferase deficiency	Inferred relationship	Some
Gyrate atrophy	Associated aetiologic finding	False	Ornithine aminotransferase deficiency	Inferred relationship	Some
Gyrate atrophy	Due to	True	Ornithine aminotransferase deficiency	Inferred relationship	Some	1

This concept is not in any reference sets