Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
SNOMED CT code
| SNOMED code | 733049004 |
|---|---|
| name | Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Cerebrum 83678007 |
| Associated morphology | Pathologic calcification 18115005 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Retinal structure 5665001 |
| Associated morphology | Degenerative abnormality 107669003 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| 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 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Lesion of brain 301766008 Cerebral calcification 17944005 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Retina finding 399858007 Retinal disorder 29555009 Congenital anomaly of retina 49381001 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Congenital anomaly of brain 57148006 Congenital anomaly of cerebrum 702628006 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Congenital degeneration of nervous system 95477007 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Degeneration of retina 95695004 Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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