retinitis pigmentosa-deafness syndrome

Preferred Label : retinitis pigmentosa-deafness syndrome;

Details

Origin ID

DA-71920;

UMLS CUI

C0271097;

Currated CISMeF NLP mapping
- Retinitis pigmentosa-deafness syndrome [OMIM Phenotype]
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Usher Syndrome [NCIt concept]
- Usher syndrome [PASCAL descriptor]
- Usher syndrome [ICD-11 Subcategory]
- Usher syndrome [Disease (Nov.)]
- Usher syndrome [DO Concept]
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 (disorder) [SNOMED CT concept]
- Usher's syndrome [MedDRA Preferred Term]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- usher syndrome [MedlinePlus Topic]
- usher syndromes [MeSH Descriptor]
- usher syndromes [MeSH concept]
ICD-10 exact mapping(s)
- Hereditary retinal dystrophy [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Inherited retinal disorder [ORDO Disease]
- Retinal ciliopathy due to mutation in Usher gene [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic rod-cone dystrophy [ORDO Disease]
Metaterm(s)
- ophthalmology [CISMeF Metaterm]
SNOMED CT concept
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa-deafness syndrome [OMIM Phenotype]
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Retinitis pigmentosa-deafness-ataxia syndrome (disorder) [SNOMED CT concept]
- Usher Syndrome [NCIt concept]
- Usher syndrome [ORDO Disease]
- Usher syndrome [Disease (Nov.)]
- Usher syndrome [DO Concept]
- Usher's syndrome [MedDRA Preferred Term]
- usher syndrome [MedlinePlus Topic]
- usher syndromes [MeSH concept]
- usher syndromes [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

Main resources

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