retinitis pigmentosa, deafness, mental retardation, and hypogonadism

Preferred Label : retinitis pigmentosa, deafness, mental retardation, and hypogonadism;

MeSH note : OMIM term: insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation;

Details

Origin ID

C564841;

UMLS CUI

C1849401;

Currated CISMeF NLP mapping
- Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism [ICD-11 More detail]
- Retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism [OMIM Phenotype]
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) [SNOMED CT concept]
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- hearing loss, conductive [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- retinitis pigmentosa, deafness, mental retardation, and hypogonadism [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism [ICD-11 More detail]
- Retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism [OMIM Phenotype]
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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