| kleine gestalte door partiële groeihormoonreceptordeficiëntie (aandoening) | | kleine gestalte door partiële groeihormoonreceptordeficiëntie | | kleine lichaamslengte door partiële GH-receptordeficiëntie
| | Short stature due to partial growth hormone receptor deficiency | | Short stature due to partial GHR (growth hormone receptor) deficiency
| | Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. |
| | Id | 783098009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E34.3 | | Term | Kleine gestalte, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 314802 |
| SNOMED CT to ICD-10 extended map | | Target | E34.3 | | Rule | TRUE | | Advice | ALWAYS E34.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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