1162832007: Mayer Rokitansky Küster Hauser syndrome type 1 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Pelvic organ finding (finding)\Uterus finding\...

\Uterus absent\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.

\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Pelvic organ finding (finding)\Uterus finding\Uterus absent\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Pelvic organ finding (finding)\Uterus finding\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Vagina finding\Vagina absent\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Vagina finding\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Uterus finding\Uterus absent\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Uterus finding\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Vagina finding\Vagina absent\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Vagina finding\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Pelvic organ finding (finding)\Uterus finding\Uterus absent\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Pelvic organ finding (finding)\Uterus finding\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Uterus finding\Uterus absent\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Uterus finding\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Vagina finding\Vagina absent\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Female genitalia finding\Vagina finding\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.

\Disease\Genetic disease\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of vagina\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of uterus\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital female urogenital anomaly (disorder)\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Congenital anomaly of female genital system\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of vagina\Congenital absence of vagina\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital uterine anomaly\Congenital absence of uterus\A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).\An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4591693014 An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591694015 An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact etiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591681017 Mayer Rokitansky Küster Hauser syndrome type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591682012 Mayer Rokitansky Küster Hauser syndrome type 1 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4591683019 MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Is a	aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal	false	Inferred relationship	Some
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Occurrence	Congenital	true	Inferred relationship	Some	1
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Finding site	Structure of upper third of vagina	true	Inferred relationship	Some	1
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Occurrence	Congenital	true	Inferred relationship	Some	2
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Finding site	Uterine structure	true	Inferred relationship	Some	2
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	2
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Occurrence	Congenital	true	Inferred relationship	Some	3
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Finding site	Structure of middle third of vagina	true	Inferred relationship	Some	3
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	3
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	Is a	A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).	true	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
4591693014	An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591694015	An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact etiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591681017	Mayer Rokitansky Küster Hauser syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591682012	Mayer Rokitansky Küster Hauser syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4591683019	MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core