124275001: Deficiency of hypoxanthine phosphoribosyltransferase (disorder)

SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of hypoxanthine 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

203921018 Deficiency of hypoxanthine-guanine phosphoribosyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203922013 Deficiency of guanine phosphoribosyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203923015 Deficiency of IMP pyrophosphorylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

203924014 Deficiency of hypoxanthine phosphoribosyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727849014 Deficiency of hypoxanthine phosphoribosyltransferase (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
Deficiency of hypoxanthine phosphoribosyltransferase	est un(e) (attribut)	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of hypoxanthine phosphoribosyltransferase	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	est un(e) (attribut)	True	Deficiency of hypoxanthine phosphoribosyltransferase	Inferred relationship	Some
Lesch-Nyhan syndrome	est un(e) (attribut)	True	Deficiency of hypoxanthine phosphoribosyltransferase	Inferred relationship	Some

This concept is not in any reference sets