717914000: Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Toe finding\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Toe finding\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Disorder of eye region\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of eye region\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

\Eye / vision finding\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of eye region\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324391012 Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3324392017 Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome en Synonym Active Case insensitive SNOMED CT core

3324393010 Frydman Cohen Karmon syndrome en Synonym Active Case sensitive SNOMED CT core

3324395015 Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Finding site	Structure of palpebral fissure	true	Inferred relationship	Some	1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Finding site	Toe structure	true	Inferred relationship	Some	2
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Associated morphology	Narrowed structure	true	Inferred relationship	Some	1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Associated morphology	Prolapse	true	Inferred relationship	Some	3
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Narrowing of palpebral fissure	false	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Esotropia	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Syndactyly of toes	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Congenital blepharophimosis	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Congenital strabismus	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Congenital esotropia	false	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Congenital ptosis	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Finding site	Upper eyelid structure	true	Inferred relationship	Some	3
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	5
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Finding site	Toe structure	false	Inferred relationship	Some	5
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Associated morphology	Congenital prolapse	false	Inferred relationship	Some	4
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Finding site	Upper eyelid structure	false	Inferred relationship	Some	4
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Associated morphology	Narrowed structure	false	Inferred relationship	Some	3
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	Finding site	Structure of palpebral fissure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324391012	Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324392017	Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324393010	Frydman Cohen Karmon syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324395015	Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core