Congenital cerebellar ataxia due to RNU12 mutation 1177169004
SNOMED CT code
| SNOMED code | 1177169004 |
|---|---|
| name | Congenital cerebellar ataxia due to RNU12 mutation |
| status | active |
| date introduced | 2021-10-31 |
| fully specified name(s) | Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebellar structure 113305005 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Hypoplasia 55199003 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| 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 Congenital cerebellar ataxia due to RNU12 mutation 1177169004 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Cerebellar disorder 223176004 Dysgenesis of the cerebellum 253171007 Congenital cerebellar hypoplasia 16026008 Congenital cerebellar ataxia due to RNU12 mutation 1177169004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Congenital cerebellar ataxia due to RNU12 mutation 1177169004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Congenital cerebellar ataxia due to RNU12 mutation 1177169004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Cerebellar ataxia 85102008 Congenital cerebellar ataxia due to RNU12 mutation 1177169004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Congenital cerebellar ataxia due to RNU12 mutation 1177169004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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