80908008: Ornithine carbamoyltransferase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency

\Sex-linked hereditary disorder\Ornithine carbamoyltransferase deficiency

\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\Ornithine carbamoyltransferase deficiency
\trouble métabolique\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency
\trouble métabolique\Enzymopathy\Ornithine carbamoyltransferase deficiency

\Congenital disease\Inborn error of metabolism\Ornithine carbamoyltransferase 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

134206013 Ornithine carbamoyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

134207016 Ornithine transcarbamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

134208014 OCTD en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

134209018 OCT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

504541017 OTC - Ornithine transcarbamylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

504542012 OCT - Ornithine carbamoyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

504543019 Deficiency of citrulline phosphorylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

504544013 Ornithine transcarbamoylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

504545014 Deficiency of ornithine carbamoyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

504546010 Deficiency of ornithine transcarbamylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

822120013 Ornithine carbamoyltransferase 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 carbamoyltransferase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	est un(e) (attribut)	Hyperammonemia	true	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	est un(e) (attribut)	Sex-linked hereditary disorder	true	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Ornithine carbamoyltransferase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)