238007004: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\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
549571000241116	déficit partiel en hypoxanthine guanine phosphoribosyltransférase (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
992951000172119	déficit partiel en hypoxanthine guanine phosphoribosyltransférase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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