| compleet androgeenongevoeligheidssyndroom (aandoening) | | compleet androgeenongevoeligheidssyndroom | | 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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