69525003: Hereditary orotic aciduria, type 1 (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Orotic aciduria\Hereditary orotic aciduria\Hereditary orotic aciduria, type 1

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Hereditary orotic aciduria, type 1
\Metabolic disease\Disorder of pyrimidine metabolism\Orotic aciduria\Hereditary orotic aciduria\Hereditary orotic aciduria, type 1
\Metabolic disease\Enzymopathy\Hereditary orotic aciduria\Hereditary orotic aciduria, type 1

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

115517010 Hereditary orotic aciduria, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

115518017 Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

115520019 UMP synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

115521015 OPRT AND OMP decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

501313016 Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

501314010 Hereditary orotic aciduria type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

501315011 UMPS - Uridine monophosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

501316012 Uridine monophosphate synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

809480010 Hereditary orotic aciduria, type 1 (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
Hereditary orotic aciduria, type 1	Is a	Hereditary orotic aciduria	true	Inferred relationship	Some
Hereditary orotic aciduria, type 1	Is a	Disorder of purine and pyrimidine metabolism	true	Inferred relationship	Some
Hereditary orotic aciduria, type 1	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary orotic aciduria, type 1	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets