Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism

Preferred Label : Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism;

ICD-11 definition : Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism syndrome is characterised by retinitis pigmentosa, intellectual deficit, deafness and hypogenitalism.;

Details

Origin ID

1217628307;

UMLS CUI

C1849401;

CISMeF manual mappings
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism [OMIM Phenotype]
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) [SNOMED CT concept]
- retinitis pigmentosa, deafness, mental retardation, and hypogonadism [MeSH Supplementary Concept]
- retinitis pigmentosa, deafness, mental retardation, and hypogonadism [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa, deafness, impaired intellectual development, and hypogonadism [OMIM Phenotype]
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome [ORDO Disease]
- retinitis pigmentosa, deafness, mental retardation, and hypogonadism [MeSH concept]
- retinitis pigmentosa, deafness, mental retardation, and hypogonadism [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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