Joubert syndrome 716997004
SNOMED CT code
| SNOMED code | 716997004 |
|---|---|
| name | Joubert syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Joubert syndrome (disorder) |
| synonyms | Joubert syndrome |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Aplasia 45486003 |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebellar vermis structure 58501004 |
| parents | |
| children |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Cerebellar disorder 223176004 Absence of the vermis 253177006 Aplasia of the vermis 253174004 Familial aplasia of the vermis 253175003 Joubert syndrome 716997004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Joubert syndrome 716997004 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 Joubert syndrome 716997004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Joubert syndrome 716997004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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