267451005: Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

398889016 Hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

398890013 X-linked hyperuricaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

398891012 X-linked hyperuricemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

660069016 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

398889016 Hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

398889016 Hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

398890013 X-linked hyperuricaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

398890013 X-linked hyperuricaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

398891012 X-linked hyperuricemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

660069016 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

660069016 Hypoxanthine-guanine phosphoribosyltransferase 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
Hypoxanthine-guanine phosphoribosyltransferase deficiency	Is a	Disorder of purine and pyrimidine metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoxanthine-guanine phosphoribosyltransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoxanthine-guanine phosphoribosyltransferase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lesch-Nyhan syndrome	Is a	False	Hypoxanthine-guanine phosphoribosyltransferase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)	Is a	False	Hypoxanthine-guanine phosphoribosyltransferase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set