715391004: Blepharophimosis epicanthus inversus ptosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Deformity (finding)\Deformity of tissue\Congenital deformity of soft tissue (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of soft tissue (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Epicanthus finding (finding)\Epicanthus inversus (finding)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disorder of skin (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Epicanthus finding (finding)\Epicanthus inversus (finding)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding (finding)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of skin AND/OR subcutaneous tissue of head (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Skin finding\Epicanthus finding (finding)\Epicanthus inversus (finding)\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of head (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Epicanthus finding (finding)\Epicanthus inversus (finding)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Eyelid finding (finding)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis 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 epicanthus inversus ptosis 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 epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of head (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Integumentary system finding\Skin finding\Epicanthus finding (finding)\Epicanthus inversus (finding)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of soft tissue (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of head (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis 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 epicanthus inversus ptosis 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 epicanthus inversus ptosis 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 epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of skin AND/OR subcutaneous tissue of head (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid (disorder)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of soft tissue\Congenital deformity of soft tissue (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of head (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of head (disorder)\Dermatosis of eyelid (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of soft tissue (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Blepharophimosis epicanthus inversus ptosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302366019	Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302434013	Blepharophimosis epicanthus inversus ptosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4165357012	BPES - blepharophimosis epicanthus inversus ptosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400846014	A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400847017	A rare ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302366019	Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302366019	Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302434013	Blepharophimosis epicanthus inversus ptosis syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302434013	Blepharophimosis epicanthus inversus ptosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4165357012	BPES - blepharophimosis epicanthus inversus ptosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302435014	An ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302436010	An ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400846014	A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400847017	A rare ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
521461000274110	BPES - Blepharophimose-Ptosis-Epicanthus inversus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
561891000274113	Blepharophimose-Ptosis-Epicanthus inversus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410641001000116	Blepharophimose-Epicanthus inversus-Ptosis-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5956541000241114	syndrome de blépharophimosis, ptosis et épicanthus inversus	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5956551000241112	BPES - blépharophimosis, ptosis et épicanthus inversus	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5956541000241114	syndrome de blépharophimosis, ptosis et épicanthus inversus	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5956551000241112	BPES - blépharophimosis, ptosis et épicanthus inversus	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
521461000274110	BPES - Blepharophimose-Ptosis-Epicanthus inversus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
561891000274113	Blepharophimose-Ptosis-Epicanthus inversus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410641001000116	Blepharophimose-Epicanthus inversus-Ptosis-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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