Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006
SNOMED CT code
| SNOMED code | 1204415006 |
|---|---|
| name | Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome |
| status | active |
| date introduced | 2022-03-31 |
| fully specified name(s) | Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) |
| synonyms |
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| attributes - group4 | |
| Finding site | Visual structure 49549006 |
| attributes - group5 | |
| Finding site | Auditory structure 91159003 |
| attributes - group3 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Decreased 1250004 |
| attributes - group1 | |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Degenerative abnormality 107669003 |
| attributes - group2 | |
| Finding site | Spinal cord structure 2748008 |
| Associated morphology | Degenerative abnormality 107669003 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of vision 95677002 Visual disturbance 63102001 Blindness AND/OR vision impairment level 105597003 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Spinocerebellar ataxia 129609000 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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