238007004: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

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

356737015 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356738013 Partial HGPRT deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626824019 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

938151000172111 déficit en HPRT (hypoxanthine guanine phosphoribosyltransférase) grade I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

992951000172119 déficit partiel en hypoxanthine guanine phosphoribosyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

887281000172112 HPRT (hypoxanthine-guanine phosphoribosyltransferase)-deficiëntie, graad I nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

901121000172119 syndroom van Kelley-Seegmiller nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Is a	Hypoxanthine-guanine phosphoribosyltransferase deficiency	false	Inferred relationship	Some
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Is a	Deficiency of hypoxanthine phosphoribosyltransferase	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets