Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 203921018 | Deficiency of hypoxanthine-guanine phosphoribosyltransferase | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 203922013 | Deficiency of guanine phosphoribosyltransferase | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 203923015 | Deficiency of IMP pyrophosphorylase | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 203924014 | Deficiency of hypoxanthine phosphoribosyltransferase | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 727849014 | Deficiency of hypoxanthine phosphoribosyltransferase (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of hypoxanthine phosphoribosyltransferase | Is a | Deficiency of transferase | true | Inferred relationship | Existential restriction modifier | ||
| Deficiency of hypoxanthine phosphoribosyltransferase | Finding site | Body system structure | false | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | Is a | True | Deficiency of hypoxanthine phosphoribosyltransferase | Inferred relationship | Existential restriction modifier | |
| Lesch-Nyhan syndrome | Is a | True | Deficiency of hypoxanthine phosphoribosyltransferase | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR