733032006: Epilepsy telangiectasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Congenital deformity\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Epilepsy telangiectasia syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Epilepsy telangiectasia syndrome

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Epilepsy telangiectasia syndrome

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

\General finding of soft tissue\Conjunctival finding\Disorder of conjunctiva\Lesion of conjunctiva\Epilepsy telangiectasia syndrome
\General finding of soft tissue\Conjunctival finding\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of conjunctiva\Lesion of conjunctiva\Epilepsy telangiectasia syndrome
\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
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of conjunctiva\Epilepsy telangiectasia syndrome

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

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome

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

\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of conjunctiva\Lesion of conjunctiva\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of orbit proper\Congenital anomaly of orbit\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of conjunctiva\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of conjunctiva\Lesion of conjunctiva\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of conjunctiva\Lesion of conjunctiva\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of conjunctiva\Lesion of conjunctiva\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of conjunctiva\Vascular abnormality of conjunctiva\Conjunctival telangiectasis\Epilepsy telangiectasia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epilepsy telangiectasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Epilepsy telangiectasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of orbit\Epilepsy telangiectasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Epilepsy telangiectasia syndrome
\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Epilepsy telangiectasia syndrome

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

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3498611018 Epilepsy telangiectasia syndrome en Synonym Active Case insensitive SNOMED CT core

3499938018 Syndrome with characteristics of intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum immunoglobulin antibody, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498610017	Epilepsy telangiectasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498611018	Epilepsy telangiectasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499938018	Syndrome with characteristics of intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum immunoglobulin antibody, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core