Joubert syndrome

ICD-11 code : LD20.00;

Preferred Label : Joubert syndrome;

ICD-11 definition : Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.;

Details

Origin ID

1414756318;

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 [ORDO Disease]
- Joubert syndrome [MedDRA Preferred Term]
- Joubert syndrome [OMIM phenotypic series]
- Joubert syndrome [Disease (Nov.)]
- Joubert syndrome (disorder) [SNOMED CT concept]
- Joubert syndrome 1 [OMIM Phenotype]
- familial aplasia of vermis [Radlex concept]
ICD-10 Mapping
- Other reduction deformities of brain [ICD-10 Sub-category]

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