| deficiëntie van corticosteroïdbindend globuline (aandoening) | | deficiëntie van corticosteroïdbindend globuline | | transcortinedeficiëntie
| | Corticosteroid-binding globulin deficiency | | Transcortin deficiency
| | A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. |
| | Id | 773728004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E27.8 | | Term | Overige gespecificeerde bijnieraandoeningen |
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| SNOMED CT to Orphanet simple map | 199247 |
| SNOMED CT to ICD-10 extended map | | Target | E27.8 | | Rule | TRUE | | Advice | ALWAYS E27.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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