| syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën (aandoening) | | syndroom van 46,XX-geslachtsontwikkelingsstoornis met anorectale anomalieën | | syndroom van vrouwelijk pseudohermafroditisme met anorectale afwijkingen
| | 46,XX disorder of sex development with anorectal anomalies syndrome | | Female pseudohermaphroditism with anorectal anomalies syndrome
| | A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. |
| | Id | 733622000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q56.2 | | Term | Vrouwelijk pseudohermafroditisme, niet elders geclassificeerd |
| Target | Q42.3 | | Term | Congenitale afwezigheid, atresie en stenose van anus zonder fistel |
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| SNOMED CT to Orphanet simple map | 2973 |
| SNOMED CT to ICD-10 extended map | | Target | Q56.2 | | Rule | TRUE | | Advice | ALWAYS Q56.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q42.3 | | Rule | TRUE | | Advice | ALWAYS Q42.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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