412787009: Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Deformity\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Eye / vision finding\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \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, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth

Status: current, Primitive. Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1719891000168119	Blepharophimosis-intellectual disability syndrome, Ohdo type	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
2474343011	Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth	en	Synonym	Active	Case insensitive	SNOMED CT core
2478440016	Ohdo blepharophimosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3643123015	Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3643126011	Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth	en	Synonym	Active	Case insensitive	SNOMED CT core
3782737012	A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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