RHYNS syndrome

Preferred Label : RHYNS syndrome;

MeSH synonym : retinitis pigmentosa, HYpopituitarism, nephronophthisis, and mild skeletal dysplasia; retinitis pigmentosa syndrome;

Details

Origin ID

C537612;

UMLS CUI

C1865794;

Automatic exact mappings (from CISMeF team)
- Syndromic rod-cone dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- RHYNS syndrome [ORDO Disease]
- Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia [ICD-11 More detail]
- Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Rhyns syndrome [OMIM Phenotype]
Has phenotype(s) (HPO)
- Conductive deafness [HPO term]
- Enophthalmos [HPO term]
MeSH term(s) associated for indexing
- hypopituitarism [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
ORDO relation(s)
- RHYNS syndrome [ORDO Disease]
Record concept(s)
- RHYNS syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- RHYNS syndrome [ORDO Disease]
- Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Rhyns syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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