Mayer-Rokitansky-Küster-Hauser-syndroom (aandoening) DEPRECATED
Mayer-Rokitansky-Küster-Hauser-syndroom
congenitale afwezigheid van baarmoeder en vagina
MRKH-syndroom
congenitale afwezigheid van uterus en vagina
syndroom van Mayer-Rokitansky-Küster
MRKH-syndroom
Aangeboren afwijking waarbij een vrouw geen vagina en geen baarmoeder heeft en er soms ook afwijkingen aan nieren, skelet, hart of gehoor bestaan.
Rokitansky sequence
Congenital absence of uterus and vagina
Mayer-Rokitansky-Kuster syndrome
Describes a spectrum of Mullerian duct anomalies with congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity.
Id8793008
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2025-01-01)
REPLACED BY association reference set1354648006 | Mayer Rokitansky Küster Hauser syndrome | (2025-01-01)
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ51.8
TermOverige gespecificeerde congenitale misvormingen van uterus en cervix
SNOMED CT to Orphanet simple map3109