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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
356737015 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 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
3418261001000118 Kelley-Seegmiller-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938151000172111 déficit en HPRT (hypoxanthine guanine phosphoribosyltransférase) grade I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992951000172119 déficit partiel en hypoxanthine guanine phosphoribosyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938151000172111 déficit en HPRT (hypoxanthine guanine phosphoribosyltransférase) grade I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992951000172119 déficit partiel en hypoxanthine guanine phosphoribosyltransférase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418261001000118 Kelley-Seegmiller-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) Is a Hypoxanthine-guanine phosphoribosyltransferase deficiency false Inferred relationship Existential restriction modifier (core metadata concept)
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) Is a Deficiency of hypoxanthine phosphoribosyltransferase true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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