Epilepsy telangiectasia syndrome 733032006
SNOMED CT code
| SNOMED code | 733032006 |
|---|---|
| name | Epilepsy telangiectasia syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Epilepsy telangiectasia syndrome (disorder) |
| synonyms | Epilepsy telangiectasia syndrome |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Cerebrum 83678007 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Conjunctival structure 29445007 |
| Associated morphology | Telangiectasis 112641009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Entire little finger 362773007 |
| Associated morphology | Abnormally short growth 11182007 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 General finding of soft tissue 248402002 Disorder of soft tissue 19660004 Soft tissue lesion 239953001 Lesion of conjunctiva 112401000119106 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of ocular adnexa 128327004 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Congenital anomaly of finger 20948006 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 General finding of soft tissue 248402002 Conjunctival finding 246875002 Disorder of conjunctiva 59698003 Vascular abnormality of conjunctiva 74100001 Conjunctival telangiectasis 231870008 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Finding of hand region 116311003 Finding of digit of hand 313132009 Brachydactyly of hand 310798000 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of eye 371405004 Disorder of anterior segment of eye 128535002 Congenital anomaly of anterior segment of eye 429448005 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of orbit 54873004 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Epilepsy telangiectasia syndrome 733032006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Epilepsy telangiectasia syndrome 733032006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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