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238007004: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)


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


0 descendants.

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 Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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