Joubert Syndrome

Preferred Label : Joubert Syndrome;

NCIt definition : A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.;

Details

Origin ID

C74996;

UMLS CUI

C0431399;

Currated CISMeF NLP mapping
- Agenesis of cerebellar vermis [HPO term]
- Familial aplasia of the vermis (disorder) [SNOMED CT concept]
- Joubert syndrome [PASCAL descriptor]
- Joubert syndrome [DO Concept]
- Joubert syndrome [Disease (Nov.)]
- Joubert syndrome [ICD-11 Sub-sub category]
- Joubert syndrome [MedDRA Preferred Term]
- Joubert syndrome [OMIM phenotypic series]
- Joubert syndrome [ORDO Disease]
- Joubert syndrome (disorder) [SNOMED CT concept]
- familial aplasia of vermis [Radlex 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 [ORDO Disease]
- Joubert syndrome [PASCAL descriptor]
- Joubert syndrome [DO Concept]
- Joubert syndrome [Disease (Nov.)]
- Joubert syndrome [MedDRA Preferred Term]
- Joubert syndrome (disorder) [SNOMED CT concept]
- Joubert syndrome 1 [MeSH concept]
- Joubert syndrome 1 [OMIM Phenotype]
- familial aplasia of vermis [Radlex concept]
Validated automatic mappings to BTNT
- Agenesis of Cerebellar Vermis [MeSH Supplementary Concept]
- Joubert syndrome 1 [MeSH concept]
- Joubert syndrome 1 [Disease (Nov.)]
- Joubert syndrome 1 [DO Concept]
- Joubert syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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