| geslachtsontwikkelingsstoornis met 46,XY-karyotype en bijnierinsufficiëntie door deficiëntie van cytochroom van P450-familie 11 subfamilie A lid 1 (aandoening) | | geslachtsontwikkelingsstoornis met 46,XY-karyotype en bijnierinsufficiëntie door deficiëntie van cytochroom van P450-familie 11 subfamilie A lid 1 | | stoornis in geslachtsontwikkeling met 46,XY-karyotype en bijnierinsufficiëntie door deficiëntie van CYP11A1
| | 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency | | 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency
XY sex reversal adrenal failure
| | A rare genetic developmental defect during embryogenesis disorder with characteristics of severe early-onset salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens and sodium with elevated potassium levels. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24. |
| | Id | 783092005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q56.1 | | Term | Mannelijk pseudohermafroditisme, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 168558 |
| SNOMED CT to ICD-10 extended map | | Target | Q56.1 | | Rule | TRUE | | Advice | ALWAYS Q56.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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