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;

Automatic exact mappings (from CISMeF team)
- 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]
- Perrault syndrome 1 [OMIM Phenotype]
- gonadal dysgenesis XX type deafness [MeSH Supplementary Concept]
- gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance [SNOMED Notion]

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