715391004: Blepharophimosis epicanthus inversus ptosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Deformity\Congenital deformity\Congenital deformity of soft tissue\Blepharophimosis epicanthus inversus ptosis syndrome
\Deformity\Congenital deformity\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome

\Skin AND/OR mucosa finding\Skin finding\...

\Epicanthus finding\Epicanthus inversus\Blepharophimosis epicanthus inversus ptosis syndrome

\Disorder of skin\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of skin\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome

\General finding of soft tissue\Skin finding\Epicanthus finding\Epicanthus inversus\Blepharophimosis epicanthus inversus ptosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue\Blepharophimosis epicanthus inversus ptosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of head\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome

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

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\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
\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
\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
\Finding of head region\Finding of face\Eyelid finding\Epicanthus finding\Epicanthus inversus\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of soft tissue of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of skin AND/OR subcutaneous tissue of head\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome

\Eye / vision finding\Eyelid finding\Epicanthus finding\Epicanthus inversus\Blepharophimosis epicanthus inversus ptosis syndrome
\Eye / vision finding\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Eye / vision finding\Eyelid 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\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\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\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\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\Narrowing of palpebral fissure\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\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\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of head\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome
\Integumentary system finding\Skin finding\Epicanthus finding\Epicanthus inversus\Blepharophimosis epicanthus inversus ptosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome

\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of head\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\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\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\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\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\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\Narrowing of palpebral fissure\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\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\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\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 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 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 of soft tissue of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of skin AND/OR subcutaneous tissue of head\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of head\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of head\Dermatosis of eyelid\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis epicanthus inversus ptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Blepharophimosis epicanthus inversus ptosis syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3302434013 Blepharophimosis epicanthus inversus ptosis syndrome en Synonym Active Case insensitive SNOMED CT core

4165357012 BPES - blepharophimosis epicanthus inversus ptosis syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Congenital disease	false	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Narrowing of palpebral fissure	false	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Congenital ptosis	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Congenital deformity of face	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Deformity of eyelid	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Finding site	Upper eyelid structure	true	Inferred relationship	Some	2
Blepharophimosis epicanthus inversus ptosis syndrome	Associated morphology	Prolapse	true	Inferred relationship	Some	2
Blepharophimosis epicanthus inversus ptosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Blepharophimosis epicanthus inversus ptosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharophimosis epicanthus inversus ptosis syndrome	Finding site	Structure of palpebral fissure	true	Inferred relationship	Some	1
Blepharophimosis epicanthus inversus ptosis syndrome	Associated morphology	Narrowed structure	true	Inferred relationship	Some	1
Blepharophimosis epicanthus inversus ptosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Blepharophimosis epicanthus inversus ptosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Blepharophimosis epicanthus inversus ptosis syndrome	Finding site	Skin structure of epicanthus inversus	true	Inferred relationship	Some	3
Blepharophimosis epicanthus inversus ptosis syndrome	Associated morphology	Deformity	true	Inferred relationship	Some	3
Blepharophimosis epicanthus inversus ptosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Congenital deformity of soft tissue	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Congenital blepharophimosis	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Epicanthus inversus	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Is a	Dermatosis of eyelid	true	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome	Finding site	Skin structure of epicanthus inversus	false	Inferred relationship	Some	1
Blepharophimosis epicanthus inversus ptosis syndrome	Associated morphology	Narrowed structure	false	Inferred relationship	Some	2
Blepharophimosis epicanthus inversus ptosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharophimosis epicanthus inversus ptosis syndrome	Finding site	Structure of palpebral fissure	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Blepharophimosis epicanthus inversus ptosis syndrome plus	Is a	True	Blepharophimosis epicanthus inversus ptosis syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302366019	Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302434013	Blepharophimosis epicanthus inversus ptosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4165357012	BPES - blepharophimosis epicanthus inversus ptosis syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core