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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\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 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\Lesion of face (finding)\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye movements\Strabismus\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Strabismus\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection d'une extrémité\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 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\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 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\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 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324392017	Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324393010	Frydman Cohen Karmon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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