Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009
SNOMED CT code
| SNOMED code | 784344009 |
|---|---|
| name | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder) |
| synonyms |
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| attributes - group2 | |
| Associated morphology | Hypoplasia 55199003 |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebellar structure 113305005 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Hypoplasia 55199003 |
| Finding site | Pontine structure 49557009 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Cerebral cortex 40146001 |
| 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 Autosomal dominant hereditary disorder 11164009 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Lesion of brain 301766008 Cortical dysplasia 253153000 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Congenital anomaly of brain 57148006 Dysgenesis of the brainstem 253180007 Congenital pontocerebellar hypoplasia 45163000 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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