| 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
| | A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12. |
| | 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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