Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006
SNOMED CT code
| SNOMED code | 773498006 |
|---|---|
| name | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) |
| synonyms |
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| attributes - group2 | |
| Finding site | Cerebellar structure 113305005 |
| attributes - group1 | |
| Clinical course | Progressive 255314001 |
| attributes - group3 | |
| Finding site | Cerebrum 83678007 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| 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 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Generalized epilepsy 19598007 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Cerebellar ataxia 85102008 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006 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 cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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