Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009
SNOMED CT code
| SNOMED code | 1172696009 |
|---|---|
| name | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) |
| synonyms | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome |
| attributes - group2 | |
| Clinical course | Progressive 255314001 |
| attributes - group3 | |
| Finding site | Visual structure 49549006 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Atrophy 13331008 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of vision 95677002 Visual impairment 397540003 Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009 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 Hereditary cerebellar degeneration 37650008 Hereditary cerebellar atrophy 431641000124107 Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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