Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007
SNOMED CT code
| SNOMED code | 773583007 |
|---|---|
| name | Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Finding site | Great toe structure 78883009 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Bilobed structure 41194006 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Auditory structure 91159003 |
| attributes - group3 | |
| Finding site | Retinal structure 5665001 |
| Associated morphology | Dystrophy 4720007 |
| Occurrence | Congenital 255399007 |
| attributes - group5 | |
| Interprets | Hearing 47078008 |
| attributes - group4 | |
| Has interpretation | Abnormal 263654008 |
| Interprets | Ability to perform functions related to communication 288547000 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| 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 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 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 toe 9989000 Perodactylia of great toe 205351000 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary retinal dystrophy 41799005 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Communication disorder 278919001 Speech and language disorder 231543005 Aphonia 441913003 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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