partieel androgeenongevoeligheidssyndroom (aandoening)
partieel androgeenongevoeligheidssyndroom
partieel AOS
Partial androgen insensitivity syndrome
Partial androgen resistance syndrome
PAIS - partial androgen insensitivity syndrome
Reifenstein syndrome
Familial incomplete male pseudohermaphroditism type 1
A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
SNOMED CT to Orphanet simple map90797
SNOMED CT to ICD-10 extended map
AdviceALWAYS E34.5
CorrelationSNOMED CT source code to target map code correlation not specified