Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002
SNOMED CT code
| SNOMED code | 770898002 |
|---|---|
| name | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) |
| synonyms |
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| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Associated morphology | Degenerative abnormality 107669003 |
| Finding site | Cerebellar structure 113305005 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group2 | |
| Finding site | Oculomotor nerve structure 56193007 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Eye / vision finding 118235002 Third cranial nerve finding 106153001 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002 SNOMED CT Concept 138875005 Clinical 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 WWOX deficiency 770898002 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 WWOX deficiency 770898002 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002 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 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Third cranial nerve disease 60750009 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002 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 WWOX deficiency 770898002 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002 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 WWOX deficiency 770898002 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 WWOX deficiency 770898002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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