Cortical blindness, intellectual disability, polydactyly syndrome 732251003
SNOMED CT code
| SNOMED code | 732251003 |
|---|---|
| name | Cortical blindness, intellectual disability, polydactyly syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
| synonyms | Cortical blindness, intellectual disability, polydactyly syndrome |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Visual pathway structure 280951005 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe 128330006 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Digit structure 82680008 |
| Associated morphology | Supernumerary structure 91431006 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| 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 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 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 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 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 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 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 Polydactyly 367506006 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of visual pathways 54767005 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of visual cortex 128329001 Cortical blindness 68574006 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Cortical blindness, intellectual disability, polydactyly syndrome 732251003 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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