Agenesis of Cerebellar Vermis

Preferred Label : Agenesis of Cerebellar Vermis;

CISMeF synonym : joubert syndrome 1;

MeSH synonym : Joubert-Boltshauser syndrome; cerebellar vermis agenesis; cerebelloparenchymal disorder 4; joubert syndrome; cerebelloparenchymal disorder IV; Familial Aplasia of the Vermis; Cerebello-Oculo-Renal Syndrome;

MeSH hyponym : Cerebellooculorenal syndrome 1;

Details

Origin ID

C536293;

UMLS CUI

C0431399;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome with oculorenal defect [ORDO Disease]
- Joubert syndrome with oculorenal defect [ICD-11 More detail]
- Joubert syndrome with oculorenal defect (disorder) [SNOMED CT concept]
HPO term
- Agenesis of cerebellar vermis [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cerebellar diseases [MeSH Descriptor]
- cerebellum [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- kidney diseases, cystic [MeSH Descriptor]
- retina [MeSH Descriptor]
Record concept(s)
- Agenesis of Cerebellar Vermis [MeSH concept]
- Joubert syndrome 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agenesis of cerebellar vermis [HPO term]
- Familial aplasia of the vermis (disorder) [SNOMED CT concept]
- Joubert Syndrome [NCIt concept]
- Joubert syndrome [DO Concept]
- Joubert syndrome [Disease (Nov.)]
- Joubert syndrome [ORDO Disease]
- Joubert syndrome [PASCAL descriptor]
- Joubert syndrome [MedDRA Preferred Term]
- Joubert syndrome (disorder) [SNOMED CT concept]
- Joubert syndrome 1 [OMIM Phenotype]
- familial aplasia of vermis [Radlex concept]
Validated automatic mappings to NTBT
- Joubert Syndrome [NCIt concept]
- Joubert syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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