Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
SNOMED CT code
| SNOMED code | 1222655009 |
|---|---|
| name | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
| synonyms | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome |
| attributes - group4 | |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group5 | |
| Finding site | Auditory structure 91159003 |
| attributes - group2 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Decreased 1250004 |
| attributes - group3 | |
| Interprets | Muscle tone 6918002 |
| Has interpretation | Decreased 1250004 |
| attributes - group1 | |
| Finding site | Optic nerve structure 18234004 |
| Associated morphology | Atrophy 13331008 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 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 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Inherited optic neuropathy 312942003 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Muscle tone - finding 366725004 Decreased muscle tone 398151007 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Poor muscle tone 398152000 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Optic atrophy 76976005 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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