763066009: Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding (finding)\Heart disease\...

\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Anal finding\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Disorder of anal region (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Disorder of anal region (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Perineal finding\Disorder of perineum (disorder)\Disorder of anal region (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Perineal finding\Disorder of perineum (disorder)\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Perineal finding\Anal finding\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding (finding)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding (finding)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Disorder of anal region (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Cardiovascular finding (finding)\Cardiac finding (finding)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Cardiac finding (finding)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Cardiac finding (finding)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract (disorder)\Congenital anomaly of gastrointestinal tract (disorder)\Anorectal anomaly\Congenital anomaly of anus\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac atrium (disorder)\Congenital abnormality of atrium (disorder)\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Congenital abnormality of cardiac ventricle\Congenital anomaly of atrioventricular septum\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital atrioventricular septal defect (disorder)\A rare, genetic multiple congentovaginal fistula) defects. Occurrence Congenital true Inferred relationship Some 2 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Associated morphology dysgenese false Inferred relationship Some 2 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Associated morphology Congenital septal defect (morphologic abnormality) true Inferred relationship Some 1 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Occurrence Congenital true Inferred relationship Some 1 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Finding site Anal structure (body structure) true Inferred relationship Some 3 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Finding site Upper extremity, including shoulder, arm, forearm, wrist, and hand true Inferred relationship Some 2 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Congenital anomaly of cardiac chamber (disorder) false Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Congenital abnormality of cardiac connection false Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Congenital structural abnormality of eyelid false Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Associated morphology Morphologically abnormal structure true Inferred relationship Some 2 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Associated morphology Morphologically abnormal structure true Inferred relationship Some 3 A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Congenital abnormality of cardiac ventricle false Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Narrowing of palpebral fissure false Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Digestive system hereditary disorder true Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Congenital abnormality of atrium (disorder) false Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Developmental hereditary disorder true Inferred relationship Some A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Is a Congenital atrioventricular septal defect (disorder) true Inferred relationship Some

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