familial aplasia of vermis

Preferred Label : familial aplasia of vermis;

RADLEX synonyms : Joubert syndrome;

Origin ID

RID34838;

UMLS CUI

C0431399;

Associated condition of
- molar tooth sign of brain [Radlex concept]
Currated CISMeF NLP mapping
- Agenesis of Cerebellar Vermis [MeSH Supplementary 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 [PASCAL descriptor]
- Joubert syndrome [OMIM phenotypic series]
- Joubert syndrome [ICD-11 Sub-sub category]
- Joubert syndrome [MedDRA Preferred Term]
- Joubert syndrome [Disease (Nov.)]
- Joubert syndrome [ORDO Disease]
- Joubert syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agenesis of Cerebellar Vermis [MeSH Supplementary 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 [PASCAL descriptor]
- Joubert syndrome [ORDO Disease]
- Joubert syndrome [Disease (Nov.)]
- Joubert syndrome [MedDRA Preferred Term]
- Joubert syndrome (disorder) [SNOMED CT concept]
- Joubert syndrome 1 [OMIM Phenotype]
- Joubert syndrome 1 [MeSH concept]