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Mayer-Rokitansky-Küster-Hauser-syndroom type 1 (aandoening)
Mayer-Rokitansky-Küster-Hauser-syndroom type 1
MRKH-syndroom type 1
congenitale afwezigheid van baarmoeder en vagina
syndroom van Mayer-Rokitansky-Küster-Hauser type 1
Rokitansky-sequentie
congenitale afwezigheid van uterus en vagina
syndroom van Mayer-Rokitansky-Küster
MRKH-syndroom type 1
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
Associated morphologyafwezigheid
Finding sitestructuur van uterus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map3109
SNOMED CT to ICD-10 extended map
TargetQ52.0
RuleTRUE
AdviceALWAYS Q52.0
CorrelationSNOMED CT source code to target map code correlation not specified
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