Perrault syndrome

Preferred Label : Perrault syndrome;

ICD-11 definition : Perrault syndrome is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.;

Details

Origin ID

256968598;

Currated CISMeF NLP mapping
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) [SNOMED CT concept]
- Perrault syndrome [ORDO Disease]
- Perrault syndrome [DO Concept]
- Perrault syndrome [OMIM phenotypic series]
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]
- gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance [SNOMED Notion]
Validated automatic mappings to BTNT
- Perrault syndrome 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients