| syndroom van 46,XX-geslachtsontwikkelingsstoornis en skeletafwijkingen (aandoening) | | syndroom van 46,XX-geslachtsontwikkelingsstoornis en skeletafwijkingen | | 46,XX disorder of sex development with skeletal anomalies syndrome | | Female pseudohermaphroditism with skeletal anomalies syndrome
| | A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. |
| | Id | 733621007 | | 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 | Q79.9 | | Term | Congenitale misvorming van botspierstelsel, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 2975 |
| 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 |
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