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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\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)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\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)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\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)
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\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)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\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)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Lesion of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\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\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\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\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Syndactyly of toes\Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Disorder of stature\Short stature disorder\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
5401633012	A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401634018	A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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