699298009: Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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 anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease (disorder)\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Developmental hereditary disorder\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2983642016	Say-Barber-Biesecker-Young-Simpson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983655015	Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983711017	Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2983721013	Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983738012	Young-Simpson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3782735016	Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066754016	Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5066755015	Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3782734017	Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10037201000172116	syndrome de blépharophimosis et déficience intellectuelle de type Say-Barber-Biesecker-Young-Simpson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10037211000172118	BMRS (blepharophimosis and mental retardation syndrome) de type Say-Barber-Biesecker-Young-Simpson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5181151000172110	blefarofimose-mentaleretardatiesyndroom Say-Barber-Biesecker-Young-Simpson-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5181161000172112	syndroom van Ohdo Say-Barber-Biesecker-Young-Simpson-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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