1230344000: Microphthalmia, microtia, fetal akinesia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome

\Finding of movement\Movement disorder\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of movement\Motor dysfunction\Akinesia\Microphthalmia, microtia, fetal akinesia syndrome

\General finding of soft tissue\Blood vessel finding\Arterial finding\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome

\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of left eye\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of right eye\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of left eye\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of right eye\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of left eye\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of right eye\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome

\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Disorder of left eye\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of right eye\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of left eye\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of right eye\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Blood vessel finding\Arterial finding\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Akinesia\Microphthalmia, microtia, fetal akinesia syndrome

\Disease\Genetic disease\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of embryonic structure\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of left eye\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of right eye\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of left eye\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of right eye\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Embryological remnant\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Movement disorder\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Embryological remnant\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Microtia\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of left eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos of right eye\Bilateral microphthalmos\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Persistence of primitive artery\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital abnormality of cardiac connection\Abnormal ventriculoarterial connection\Single outlet ventriculoarterial connection\Common arterial trunk (truncus arteriosus)\Microphthalmia, microtia, fetal akinesia syndrome

Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5069348015 Microphthalmia, microtia, foetal akinesia syndrome en Synonym Active Case insensitive SNOMED CT core

5069349011 Microphthalmia, microtia, fetal akinesia syndrome en Synonym Active Case insensitive SNOMED CT core

5069350011 Microphthalmia, microtia, fetal akinesia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5069351010 Thomas Jewett Raines syndrome en Synonym Active Case sensitive SNOMED CT core

5069354019 A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microphthalmia, microtia, fetal akinesia syndrome	Is a	Bilateral microphthalmos	true	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	Akinesia	true	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	Microtia	true	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	Movement disorder	true	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	Common arterial trunk (truncus arteriosus)	true	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Interprets	Movement	true	Inferred relationship	Some	6
Microphthalmia, microtia, fetal akinesia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmia, microtia, fetal akinesia syndrome	Finding site	Structure of truncus arteriosus of fetus	true	Inferred relationship	Some	1
Microphthalmia, microtia, fetal akinesia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microphthalmia, microtia, fetal akinesia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microphthalmia, microtia, fetal akinesia syndrome	Finding site	External ear structure	true	Inferred relationship	Some	2
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Microphthalmia, microtia, fetal akinesia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microphthalmia, microtia, fetal akinesia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Microphthalmia, microtia, fetal akinesia syndrome	Finding site	Entire right eye	true	Inferred relationship	Some	3
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Microphthalmia, microtia, fetal akinesia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Microphthalmia, microtia, fetal akinesia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Microphthalmia, microtia, fetal akinesia syndrome	Finding site	Entire left eye	true	Inferred relationship	Some	4
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	4
Microphthalmia, microtia, fetal akinesia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Microphthalmia, microtia, fetal akinesia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Microphthalmia, microtia, fetal akinesia syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	5
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	Abnormal communication	true	Inferred relationship	Some	5
Microphthalmia, microtia, fetal akinesia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Microphthalmia, microtia, fetal akinesia syndrome	Associated morphology	Persistent truncus arteriosus	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5069348015	Microphthalmia, microtia, foetal akinesia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5069349011	Microphthalmia, microtia, fetal akinesia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5069350011	Microphthalmia, microtia, fetal akinesia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5069351010	Thomas Jewett Raines syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5069354019	A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core