733032006: Epilepsy telangiectasia syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of mucosa\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Mucosal finding\Conjunctival finding\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Mucosal finding\Conjunctival finding\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Mucosal finding\Disorder of mucous membrane (disorder)\Lesion of mucosa\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Mucosal finding\Disorder of mucous membrane (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Mucosal finding\Disorder of mucous membrane (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Conjunctival finding\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Conjunctival finding\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Ocular surface finding\Conjunctival finding\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Ocular surface finding\Conjunctival finding\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Epilepsy telangiectasia syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)

\General finding of soft tissue\Conjunctival finding\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\General finding of soft tissue\Conjunctival finding\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Ocular surface finding\Conjunctival finding\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Ocular surface finding\Conjunctival finding\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Epilepsy telangiectasia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Epilepsy telangiectasia syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Epilepsy telangiectasia syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Epilepsy telangiectasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epilepsy telangiectasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of mucosa\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of mucous membrane (disorder)\Lesion of mucosa\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of mucous membrane (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of mucous membrane (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of conjunctiva\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Lesion of conjunctiva (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Epilepsy telangiectasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498610017 Epilepsy telangiectasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498611018 Epilepsy telangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403679010 A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403680013 A rare, genetic, epilepsy syndrome characterised by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epilepsy telangiectasia syndrome (disorder)	Is a	Congenital anomaly of finger	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Epilepsy	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Conjunctival telangiectasis	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Brachydactyly of hand	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Lesion of conjunctiva (disorder)	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Epilepsy telangiectasia syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	7
Epilepsy telangiectasia syndrome (disorder)	Finding site	Entire little finger	false	Inferred relationship	Some	7
Epilepsy telangiectasia syndrome (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	5
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	Telangiectasis	false	Inferred relationship	Some	8
Epilepsy telangiectasia syndrome (disorder)	Finding site	Conjunctival structure	false	Inferred relationship	Some	8
Epilepsy telangiectasia syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Epilepsy telangiectasia syndrome (disorder)	Finding site	Conjunctival structure	true	Inferred relationship	Some	3
Epilepsy telangiectasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	Telangiectasis	true	Inferred relationship	Some	3
Epilepsy telangiectasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Epilepsy telangiectasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Epilepsy telangiectasia syndrome (disorder)	Is a	Congenital anomaly of anterior segment of eye (disorder)	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Epilepsy telangiectasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epilepsy telangiectasia syndrome (disorder)	Is a	Congenital anomaly of ocular adnexa (disorder)	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	4
Epilepsy telangiectasia syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	4
Epilepsy telangiectasia syndrome (disorder)	Finding site	Entire little finger	true	Inferred relationship	Some	1
Epilepsy telangiectasia syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	2
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Epilepsy telangiectasia syndrome (disorder)	Is a	Congenital structural abnormality of orbit proper (disorder)	false	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Epilepsy telangiectasia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Epilepsy telangiectasia syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Epilepsy telangiectasia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

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Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
3498610017	Epilepsy telangiectasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498611018	Epilepsy telangiectasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403679010	A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403680013	A rare, genetic, epilepsy syndrome characterised by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core