FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

124275001: Deficiency of hypoxanthine phosphoribosyltransferase (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
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


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of hypoxanthine phosphoribosyltransferase Is a Deficiency of transferase (disorder) true Inferred relationship Some
Deficiency of hypoxanthine phosphoribosyltransferase Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Is a True Deficiency of hypoxanthine phosphoribosyltransferase Inferred relationship Some
Lesch-Nyhan syndrome Is a True Deficiency of hypoxanthine phosphoribosyltransferase Inferred relationship Some

This concept is not in any reference sets

Back to Start