Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008
SNOMED CT code
| SNOMED code | 773548008 |
|---|---|
| name | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe 128330006 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Visual pathway structure 280951005 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Finding site | Brain structure 12738006 |
| Pathological process | Pathological developmental process 308490002 |
| 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 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Neurodevelopmental disorder 700364009 Developmental and epileptic encephalopathy 1275631007 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 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 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of visual pathways 54767005 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of visual cortex 128329001 Cortical blindness 68574006 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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