PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007
SNOMED CT code
| SNOMED code | 1260097007 |
|---|---|
| name | PUM1-associated developmental disability, ataxia, seizure syndrome |
| status | active |
| date introduced | 2022-12-31 |
| fully specified name(s) | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) |
| synonyms |
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| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| 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 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Spinocerebellar ataxia 129609000 PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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