Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia

Preferred Label : Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia;

ICD-11 definition : RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.;

ICD-11 synonym : RHYNS - [Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia] syndrome; RHYNS syndrome;

Détails

Origin ID

1712420452;

Currated CISMeF NLP mapping
- RHYNS syndrome [ORDO Disease]
- RHYNS syndrome [MeSH concept]
- RHYNS syndrome [MeSH Supplementary Concept]
- Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Rhyns syndrome [OMIM Phenotype]

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