80908008: Ornithine carbamoyltransferase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency

\Sex-linked hereditary disorder\Ornithine carbamoyltransferase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Ornithine carbamoyltransferase deficiency
\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\Ornithine carbamoyltransferase deficiency
\Metabolic disease\Enzymopathy\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

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

5244061016 OCT (ornithine carbamoyltransferase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5244062011 OTC (ornithine transcarbamylase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5286198015 OTC-gene related ornithine carbamoyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2710021000005118 Ornitincarbamoyltransferasemangel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ornithine carbamoyltransferase deficiency	Is a	Hyperammonemia	true	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	Is a	Sex-linked hereditary disorder	true	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Ornithine carbamoyltransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	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