| compleet androgeenongevoeligheidssyndroom (aandoening) | | compleet androgeenongevoeligheidssyndroom |  | Dit betekent dat je lichaam helemaal niet reageert op bepaalde hormonen die ervoor zorgen dat je lichaam mannelijke kenmerken ontwikkelt. Hierdoor heb je de uiterlijke kenmerken van een vrouw, maar geen baarmoeder en eierstokken. Je bent met dit probleem geboren. | | Complete androgen insensitivity syndrome | | CAIS - complete androgen insensitivity syndrome
Complete androgen resistance syndrome
| | A form of androgen insensitivity syndrome (AIS) characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. The condition is due to mutations in the androgen receptor (AR) gene which is located on the long arm of the X-chromosome (Xq11-12). The AR is a nuclear transcription factor comprising three functional domains. Mutations are distributed throughout the gene, predominantly in 5 of the 8 exons that code for the ligand binding domain. The CAIS phenotype is associated with an AR mutation that completely disrupts AR function. The condition is X-linked recessive. |
| | Id | 368851000119102 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E34.5 | | Term | Androgenenresistentie-syndroom |
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| SNOMED CT to Orphanet simple map | 99429 |
| SNOMED CT to ICD-10 extended map | | Target | E34.5 | | Rule | TRUE | | Advice | ALWAYS E34.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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