124276000: Deficiency of uracil phosphoribosyltransferase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of uracil phosphoribosyltransferase

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

203928012 Deficiency of UMP pyrophosphorylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

203929016 Deficiency of uracil phosphoribosyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727851013 Deficiency of uracil phosphoribosyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5754141000172111 déficit en uracile phosphoribosy-ltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4311781000172119 deficiëntie van UMP-pyrofosforylase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4311791000172116 deficiëntie van uracilfosforibosyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of uracil phosphoribosyltransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of uracil phosphoribosyltransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets